| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Transplant Co-Morbidity v0.0 | SCN5A |
Bryony Thompson gene: SCN5A was added gene: SCN5A was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN5A were set to 21824921; 22766342; 22675453; 31520233; 29506689; 19808398; 15671429; 21596231; 29871609; 17512504; 31514951; 22999724; 31930659; 20458009; 30218094 Phenotypes for gene: SCN5A were set to Heart block, nonprogressive; Atrial fibrillation, familial, 10; Long QT syndrome 3; Ventricular fibrillation, familial, 1; Cardiomyopathy, dilated, 1E, MIM# 601154; Sick sinus syndrome 1; Heart block, progressive, type IA; Brugada syndrome 1; {Sudden infant death syndrome, susceptibility to} |
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| Transplant Co-Morbidity v0.0 | RYR2 |
Bryony Thompson gene: RYR2 was added gene: RYR2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2 , MIM#600996 |
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| Transplant Co-Morbidity v0.0 | RYR1 |
Bryony Thompson gene: RYR1 was added gene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600 |
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| Transplant Co-Morbidity v0.0 | RUNX1 |
Bryony Thompson gene: RUNX1 was added gene: RUNX1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RUNX1 were set to 10508512 Phenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 |
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| Transplant Co-Morbidity v0.0 | RET |
Bryony Thompson gene: RET was added gene: RET was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400 |
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| Transplant Co-Morbidity v0.0 | RBM8A |
Bryony Thompson gene: RBM8A was added gene: RBM8A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000 |
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| Transplant Co-Morbidity v0.0 | RBM20 |
Bryony Thompson gene: RBM20 was added gene: RBM20 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM20 were set to 33947203; 30871351; 35802134 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD |
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| Transplant Co-Morbidity v0.0 | RB1 |
Bryony Thompson gene: RB1 was added gene: RB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380 |
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| Transplant Co-Morbidity v0.0 | RASGRP2 |
Bryony Thompson gene: RASGRP2 was added gene: RASGRP2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RASGRP2 were set to 32041177; 24958846; 30849270; 32609603; 31724816 Phenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM# 615888 |
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| Transplant Co-Morbidity v0.0 | PTPN11 |
Bryony Thompson gene: PTPN11 was added gene: PTPN11 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950 Mode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Transplant Co-Morbidity v0.0 | PTEN |
Bryony Thompson gene: PTEN was added gene: PTEN was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Phenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350 |
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| Transplant Co-Morbidity v0.0 | PTCH1 |
Bryony Thompson gene: PTCH1 was added gene: PTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert List Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828 |
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| Transplant Co-Morbidity v0.0 | PRKG1 |
Bryony Thompson gene: PRKG1 was added gene: PRKG1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM# 615436 |
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| Transplant Co-Morbidity v0.0 | PRKAG2 |
Bryony Thompson gene: PRKAG2 was added gene: PRKAG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 30681346 Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, MIM# 600858 |
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| Transplant Co-Morbidity v0.0 | PRDM16 |
Bryony Thompson gene: PRDM16 was added gene: PRDM16 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRDM16 were set to 34540771; 34935411; 29367541; 24387995; 32183154; 33500567; 33082984; 34350506; 31965688; 29447731; PMID: 23768516; 30847666 Phenotypes for gene: PRDM16 were set to Left ventricular noncompaction 8 MIM#615373; Cardiomyopathy, dilated, 1LL MIM#615373 |
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| Transplant Co-Morbidity v0.0 | PPIB |
Bryony Thompson gene: PPIB was added gene: PPIB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIB were set to 32392875; 19781681 Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440 |
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| Transplant Co-Morbidity v0.0 | PPARG |
Bryony Thompson gene: PPARG was added gene: PPARG was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PPARG were set to FPLD3; Lipodystrophy, familial partial, type 3; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Insulin resistance, severe, digenic; Obesity, severe, 601665; Carotid intimal medial thickness 1, 609338; Lipodystrophy, familial partial, type 3, 604367; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3 604367; [Obesity, resistance to]; Insulin resistance, severe, digenic 604367; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367 |
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| Transplant Co-Morbidity v0.0 | PMS2 |
Bryony Thompson gene: PMS2 was added gene: PMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337 |
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| Transplant Co-Morbidity v0.0 | PLS3 |
Bryony Thompson gene: PLS3 was added gene: PLS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis |
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| Transplant Co-Morbidity v0.0 | PLOD2 |
Bryony Thompson gene: PLOD2 was added gene: PLOD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD2 were set to 12881513; 22689593; 15523624 Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, MIM# 609220 |
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| Transplant Co-Morbidity v0.0 | PLN |
Bryony Thompson gene: PLN was added gene: PLN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 33947203; 30681346 Phenotypes for gene: PLN were set to Cardiomyopathy, hypertrophic, 18 (MIM #613874); Cardiomyopathy, dilated, 1P, MIM# 609909 |
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| Transplant Co-Morbidity v0.0 | PLAU |
Bryony Thompson gene: PLAU was added gene: PLAU was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLAU were set to 20007542 Phenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709 |
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| Transplant Co-Morbidity v0.0 | PLA2G4A |
Bryony Thompson gene: PLA2G4A was added gene: PLA2G4A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLA2G4A were set to 23268370; 25102815; 18451993 Phenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372 |
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| Transplant Co-Morbidity v0.0 | PKP2 |
Bryony Thompson gene: PKP2 was added gene: PKP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PKP2 were set to 33831308 Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 |
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| Transplant Co-Morbidity v0.0 | PCSK9 |
Bryony Thompson gene: PCSK9 was added gene: PCSK9 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PCSK9 were set to Hypercholesterolemia, familial, 3, MIM# 603776 |
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| Transplant Co-Morbidity v0.0 | PAX6 |
Bryony Thompson gene: PAX6 was added gene: PAX6 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PAX6 were set to diabetes; Aniridia 106210 |
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| Transplant Co-Morbidity v0.0 | PALB2 |
Bryony Thompson gene: PALB2 was added gene: PALB2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PALB2 were set to 34012068 Phenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480 |
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| Transplant Co-Morbidity v0.0 | P4HB |
Bryony Thompson gene: P4HB was added gene: P4HB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: P4HB were set to 25683117; 30063094; 29384951; 29263160 Phenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240 |
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| Transplant Co-Morbidity v0.0 | P3H1 |
Bryony Thompson gene: P3H1 was added gene: P3H1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P3H1 were set to 18566967; 17277775 Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915) |
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| Transplant Co-Morbidity v0.0 | P2RY12 |
Bryony Thompson gene: P2RY12 was added gene: P2RY12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: P2RY12 were set to 29117459; 11196645; 12578987; 19237732 Phenotypes for gene: P2RY12 were set to MONDO:0012354; Bleeding disorder, platelet-type, 8, MIM# 609821 |
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| Transplant Co-Morbidity v0.0 | NOTCH2 |
Bryony Thompson gene: NOTCH2 was added gene: NOTCH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 21378989; 21378985; 16773578 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome (MIM#102500) |
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| Transplant Co-Morbidity v0.0 | NOTCH1 |
Bryony Thompson gene: NOTCH1 was added gene: NOTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH1 were set to 26820064; 25963545; 16729972; 16025100 Phenotypes for gene: NOTCH1 were set to Aortic aneurysm |
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| Transplant Co-Morbidity v0.0 | NF2 |
Bryony Thompson gene: NF2 was added gene: NF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NF2 were set to Neurofibromatosis, type 2, MIM# 101000 |
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| Transplant Co-Morbidity v0.0 | NEXN |
Bryony Thompson gene: NEXN was added gene: NEXN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEXN were set to 28416588; 27532257; 19881492; 24503780; 29540472; 25163546; 26659360 Phenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC, MIM# 613122 |
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| Transplant Co-Morbidity v0.0 | NEUROD1 |
Bryony Thompson gene: NEUROD1 was added gene: NEUROD1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NEUROD1 were set to 10545951; 26773576; 26669242; 20573748 Phenotypes for gene: NEUROD1 were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; Maturity-Onset Diabetes Of The Young; Permanent neonatal diabetes and cerebellar agenesis; MODY6; Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394 |
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| Transplant Co-Morbidity v0.0 | NBEAL2 |
Bryony Thompson gene: NBEAL2 was added gene: NBEAL2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBEAL2 were set to 21765412; 21765411; 21765413 Phenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090 |
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| Transplant Co-Morbidity v0.0 | NBAS |
Bryony Thompson gene: NBAS was added gene: NBAS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBAS were set to 29955634; 27789416 Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; immunodeficiency; short stature; bone fragility; developmental delay; autism |
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| Transplant Co-Morbidity v0.0 | MYLK |
Bryony Thompson gene: MYLK was added gene: MYLK was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7, MIM# 613780 |
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| Transplant Co-Morbidity v0.0 | MYL3 |
Bryony Thompson gene: MYL3 was added gene: MYL3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYL3 were set to 30681346 Phenotypes for gene: MYL3 were set to Cardiomyopathy, hypertrophic, 8, MIM# 608751 |
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| Transplant Co-Morbidity v0.0 | MYL2 |
Bryony Thompson gene: MYL2 was added gene: MYL2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYL2 were set to 30681346 Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10, MIM# 608758 |
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| Transplant Co-Morbidity v0.0 | MYH9 |
Bryony Thompson gene: MYH9 was added gene: MYH9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 |
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| Transplant Co-Morbidity v0.0 | MYH7 |
Bryony Thompson gene: MYH7 was added gene: MYH7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYH7 were set to 30874888; 25935763; 30384889; 30681346; 24119082; 21483645; 27000522; 24558114; 21846512; 33947203; 31179125; 27965028 Phenotypes for gene: MYH7 were set to MONDO:0013262; Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600 |
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| Transplant Co-Morbidity v0.0 | MYH11 |
Bryony Thompson gene: MYH11 was added gene: MYH11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, MIM# 132900 |
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| Transplant Co-Morbidity v0.0 | MYBPC3 |
Bryony Thompson gene: MYBPC3 was added gene: MYBPC3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to 30681346; 20378854 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM, MIM# 615396; Left ventricular noncompaction 10, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197 |
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| Transplant Co-Morbidity v0.0 | MTTP |
Bryony Thompson gene: MTTP was added gene: MTTP was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MTTP were set to 30720493; 27604308; 8533758 Phenotypes for gene: MTTP were set to Inherited hypolipidaemias; Abetalipoproteinemia MIM#200100 |
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| Transplant Co-Morbidity v0.0 | MSH6 |
Bryony Thompson gene: MSH6 was added gene: MSH6 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350 |
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| Transplant Co-Morbidity v0.0 | MSH2 |
Bryony Thompson gene: MSH2 was added gene: MSH2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MSH2 were set to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435 |
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| Transplant Co-Morbidity v0.0 | MPL |
Bryony Thompson gene: MPL was added gene: MPL was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPL were set to 11133753 Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 |
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| Transplant Co-Morbidity v0.0 | MPIG6B |
Bryony Thompson gene: MPIG6B was added gene: MPIG6B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPIG6B were set to 29898956; 31276734; 27743390 Phenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441 |
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| Transplant Co-Morbidity v0.0 | MPI |
Bryony Thompson gene: MPI was added gene: MPI was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPI were set to 32266963; 10980531; 12414827; 33098580; 32905087; 30242110; 33204592; 9585601 Phenotypes for gene: MPI were set to MPI-CDG MONDO:0011257; Congenital disorder of glycosylation, type Ib, MIM# 602579 |
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| Transplant Co-Morbidity v0.0 | MLH1 |
Bryony Thompson gene: MLH1 was added gene: MLH1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MLH1 were set to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310 |
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| Transplant Co-Morbidity v0.0 | MESD |
Bryony Thompson gene: MESD was added gene: MESD was added to Transplant Co-Morbidity Superpanel. Sources: Other,Expert Review Green Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MESD were set to 31564437 Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644 |
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| Transplant Co-Morbidity v0.0 | MEN1 |
Bryony Thompson gene: MEN1 was added gene: MEN1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1, MIM# 131100 |
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| Transplant Co-Morbidity v0.0 | MED12 |
Bryony Thompson gene: MED12 was added gene: MED12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, MIM# 309520 |
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| Transplant Co-Morbidity v0.0 | MECOM |
Bryony Thompson gene: MECOM was added gene: MECOM was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738 |
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| Transplant Co-Morbidity v0.0 | MCFD2 |
Bryony Thompson gene: MCFD2 was added gene: MCFD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCFD2 were set to 16304051; 18391077; 12717434 Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331 |
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| Transplant Co-Morbidity v0.0 | MAX |
Bryony Thompson gene: MAX was added gene: MAX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAX were set to 34012068 Phenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300 |
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| Transplant Co-Morbidity v0.0 | LYST |
Bryony Thompson gene: LYST was added gene: LYST was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500 |
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| Transplant Co-Morbidity v0.0 | LRP5 |
Bryony Thompson gene: LRP5 was added gene: LRP5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1, MIM# 607634 |
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| Transplant Co-Morbidity v0.0 | LPL |
Bryony Thompson gene: LPL was added gene: LPL was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial |
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| Transplant Co-Morbidity v0.0 | LOX |
Bryony Thompson gene: LOX was added gene: LOX was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LOX were set to 30675029; 30071989; 26838787 Phenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM# 617168 |
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| Transplant Co-Morbidity v0.0 | LMNA |
Bryony Thompson gene: LMNA was added gene: LMNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 33947203 Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200 |
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| Transplant Co-Morbidity v0.0 | LMF1 |
Bryony Thompson gene: LMF1 was added gene: LMF1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LMF1 were set to Combined lipase deficiency |
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| Transplant Co-Morbidity v0.0 | LMAN1 |
Bryony Thompson gene: LMAN1 was added gene: LMAN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMAN1 were set to 16304051; 9546392 Phenotypes for gene: LMAN1 were set to MONDO:0009206; Combined factor V and VIII deficiency, MIM# 227300 |
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| Transplant Co-Morbidity v0.0 | LIPC |
Bryony Thompson gene: LIPC was added gene: LIPC was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: LIPC were set to 1671786; 12777476; 23219720; 26423094; 1883393; 22464213 Phenotypes for gene: LIPC were set to Inherited mixed hyperlipidaemias; Hepatic lipase deficiency MIM#614025; hyperalphalipoproteinemia |
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| Transplant Co-Morbidity v0.0 | LIPA |
Bryony Thompson gene: LIPA was added gene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease |
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| Transplant Co-Morbidity v0.0 | LDLRAP1 |
Bryony Thompson gene: LDLRAP1 was added gene: LDLRAP1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LDLRAP1 were set to 4351242 Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, 4, MIM# 603813 |
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| Transplant Co-Morbidity v0.0 | LDLR |
Bryony Thompson gene: LDLR was added gene: LDLR was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1, MIM# 143890 |
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| Transplant Co-Morbidity v0.0 | LCAT |
Bryony Thompson gene: LCAT was added gene: LCAT was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LCAT were set to 30720493; 6624548 Phenotypes for gene: LCAT were set to Disorders of high density lipoprotein metabolism; Norum disease MIM#245900; Fish-eye disease MIM#136120 |
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| Transplant Co-Morbidity v0.0 | LAMP2 |
Bryony Thompson gene: LAMP2 was added gene: LAMP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: LAMP2 were set to 25228319; 27165304; 30681346 Phenotypes for gene: LAMP2 were set to Danon disease, MIM#300257 |
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| Transplant Co-Morbidity v0.0 | KLHL24 |
Bryony Thompson gene: KLHL24 was added gene: KLHL24 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KLHL24 were set to 27798626; 30715372; 27889062 Phenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 |
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| Transplant Co-Morbidity v0.0 | KDSR |
Bryony Thompson gene: KDSR was added gene: KDSR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDSR were set to 28774589; 30467204 Phenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia |
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| Transplant Co-Morbidity v0.0 | KDELR2 |
Bryony Thompson gene: KDELR2 was added gene: KDELR2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KDELR2 were set to 33053334 Phenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; Bowing of the legs; Osteogenesis imperfecta 21, MIM# 619131; joint hypermobility; Bowing of the arms; Scoliosis |
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| Transplant Co-Morbidity v0.0 | KCNQ1 |
Bryony Thompson gene: KCNQ1 was added gene: KCNQ1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: KCNQ1 were set to 20301308; 34557911 Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, MIM# 192500; Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3 607554; Short QT syndrome 2 609621 |
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| Transplant Co-Morbidity v0.0 | KCNJ2 |
Bryony Thompson gene: KCNJ2 was added gene: KCNJ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNJ2 were set to 31983240; 34557911 Phenotypes for gene: KCNJ2 were set to Short QT syndrome; long QT syndrome; Andersen-Tawil syndrome |
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| Transplant Co-Morbidity v0.0 | KCNJ11 |
Bryony Thompson gene: KCNJ11 was added gene: KCNJ11 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNJ11 were set to Diabetes mellitus, trans; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Transient Neonatal diabetes mellitus (Dominant); {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Diabetes, permanent neonatal, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Transient Neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2, 601820 Mode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Transplant Co-Morbidity v0.0 | KCNH2 |
Bryony Thompson gene: KCNH2 was added gene: KCNH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNH2 were set to 31983240 Phenotypes for gene: KCNH2 were set to Long QT syndrome 2, MIM# 613688; Short QT syndrome |
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| Transplant Co-Morbidity v0.0 | JUP |
Bryony Thompson gene: JUP was added gene: JUP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: JUP were set to 17924338; 33831308; 16722579 Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214 |
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| Transplant Co-Morbidity v0.0 | ITGB3 |
Bryony Thompson gene: ITGB3 was added gene: ITGB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ITGB3 were set to 19336737; 20081061; 18065693; 23253071 Phenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552 |
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| Transplant Co-Morbidity v0.0 | ITGA2B |
Bryony Thompson gene: ITGA2B was added gene: ITGA2B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ITGA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ITGA2B were set to 21454453; 8282784; 1638023; 16463284 Phenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800; MONDO:000855; Bleeding disorder, platelet-type, 16, MIM# 187800 |
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| Transplant Co-Morbidity v0.0 | INSR |
Bryony Thompson gene: INSR was added gene: INSR was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INSR were set to 8288049 Phenotypes for gene: INSR were set to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; OMIM 610549; Rabson-Mendenhall syndrome, 262190; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS |
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| Transplant Co-Morbidity v0.0 | INS |
Bryony Thompson gene: INS was added gene: INS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Permanent Neonatal diabetes mellitus; Maturity Onset Diabetes of the Young; MODY10 |
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| Transplant Co-Morbidity v0.0 | IKZF5 |
Bryony Thompson gene: IKZF5 was added gene: IKZF5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF5 were set to 31217188 Phenotypes for gene: IKZF5 were set to Thrombocytopaenia 7, MIM#619130 |
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| Transplant Co-Morbidity v0.0 | IFITM5 |
Bryony Thompson gene: IFITM5 was added gene: IFITM5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IFITM5 were set to 22863195; 22863190; 32383316; 24519609 Phenotypes for gene: IFITM5 were set to Osteogenesis imperfecta type V, MIM#610967 Mode of pathogenicity for gene: IFITM5 was set to Other |
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| Transplant Co-Morbidity v0.0 | HRG |
Bryony Thompson gene: HRG was added gene: HRG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRG were set to 11057869; 8236132; 29108964 Phenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116 |
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| Transplant Co-Morbidity v0.0 | HPS6 |
Bryony Thompson gene: HPS6 was added gene: HPS6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS6 were set to 12548288; 19843503; 17041891 Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558 |
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| Transplant Co-Morbidity v0.0 | HPS5 |
Bryony Thompson gene: HPS5 was added gene: HPS5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS5 were set to 28296950; 32725903 Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 (MIM#614074) |
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| Transplant Co-Morbidity v0.0 | HPS4 |
Bryony Thompson gene: HPS4 was added gene: HPS4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS4 were set to 12664304; 11836498 Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556 |
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| Transplant Co-Morbidity v0.0 | HPS3 |
Bryony Thompson gene: HPS3 was added gene: HPS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS3 were set to 30990103; 11455388; 31621111; 31880485 Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555 |
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| Transplant Co-Morbidity v0.0 | HPS1 |
Bryony Thompson gene: HPS1 was added gene: HPS1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HPS1 were set to 9497254 Phenotypes for gene: HPS1 were set to MONDO:0008748; Hermansky-Pudlak syndrome 1, MIM# 203300 |
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| Transplant Co-Morbidity v0.0 | HNF4A |
Bryony Thompson gene: HNF4A was added gene: HNF4A was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF4A were set to 28242437 Phenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1 |
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| Transplant Co-Morbidity v0.0 | HNF1B |
Bryony Thompson gene: HNF1B was added gene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome |
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| Transplant Co-Morbidity v0.0 | HNF1A |
Bryony Thompson gene: HNF1A was added gene: HNF1A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNF1A were set to 34012068 Phenotypes for gene: HNF1A were set to MODY, type III , MIM#600496 |
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| Transplant Co-Morbidity v0.0 | HFE |
Bryony Thompson gene: HFE was added gene: HFE was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200 |
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| Transplant Co-Morbidity v0.0 | HCN4 |
Bryony Thompson gene: HCN4 was added gene: HCN4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HCN4 were set to 15123648; 16407510; 12750403; 25145518; 17646576 Phenotypes for gene: HCN4 were set to Sick sinus syndrome 2, MIM# 163800 |
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| Transplant Co-Morbidity v0.0 | GPIHBP1 |
Bryony Thompson gene: GPIHBP1 was added gene: GPIHBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list Mode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID |
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| Transplant Co-Morbidity v0.0 | GP9 |
Bryony Thompson gene: GP9 was added gene: GP9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GP9 were set to 32030720; 8049428; 33553065; 31484196 Phenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C, MIM# 231200 |
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| Transplant Co-Morbidity v0.0 | GP6 |
Bryony Thompson gene: GP6 was added gene: GP6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GP6 were set to 19549989; 23815599; 19552682 Phenotypes for gene: GP6 were set to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623 |
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| Transplant Co-Morbidity v0.0 | GP1BB |
Bryony Thompson gene: GP1BB was added gene: GP1BB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP1BB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GP1BB were set to 33813986; 33657022; 11222377; 8703016; 10887115; 9116284; 33216977; 1730088; 31997307 Phenotypes for gene: GP1BB were set to Macrothrombocytopaenia; Bernard-Soulier syndrome, type B, MIM# 231200 |
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| Transplant Co-Morbidity v0.0 | GP1BA |
Bryony Thompson gene: GP1BA was added gene: GP1BA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GP1BA were set to 24934643 Phenotypes for gene: GP1BA were set to MONDO:0007930; MONDO:0008332; Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS) |
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| Transplant Co-Morbidity v0.0 | GORAB |
Bryony Thompson gene: GORAB was added gene: GORAB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070 |
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| Transplant Co-Morbidity v0.0 | GNE |
Bryony Thompson gene: GNE was added gene: GNE was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNE were set to 30171045; 25257349; 32505938; 29941673 Phenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy |
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| Transplant Co-Morbidity v0.0 | GLA |
Bryony Thompson gene: GLA was added gene: GLA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 30681346 Phenotypes for gene: GLA were set to Fabry disease (MIM# 301500) |
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| Transplant Co-Morbidity v0.0 | GGCX |
Bryony Thompson gene: GGCX was added gene: GGCX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GGCX were set to 32785662; 26758921; 30531603 Phenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450 |
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| Transplant Co-Morbidity v0.0 | GFI1B |
Bryony Thompson gene: GFI1B was added gene: GFI1B was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GFI1B were set to 24325358; 28041820; 11825872; 23927492 Phenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900 |
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| Transplant Co-Morbidity v0.0 | GCK |
Bryony Thompson gene: GCK was added gene: GCK was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: GCK were set to 19790256 Phenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853) |
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| Transplant Co-Morbidity v0.0 | GBA |
Bryony Thompson gene: GBA was added gene: GBA was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GBA were set to Gaucher disease |
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| Transplant Co-Morbidity v0.0 | GATA6 |
Bryony Thompson gene: GATA6 was added gene: GATA6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474 |
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| Transplant Co-Morbidity v0.0 | GATA4 |
Bryony Thompson gene: GATA4 was added gene: GATA4 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,UKGTN,Expert Review Green Mode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA4 were set to 20854389; 27810688; 24696446 |
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| Transplant Co-Morbidity v0.0 | GATA1 |
Bryony Thompson gene: GATA1 was added gene: GATA1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367 |
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| Transplant Co-Morbidity v0.0 | G6PD |
Bryony Thompson gene: G6PD was added gene: G6PD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green Mode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: G6PD were set to Haemolytic anaemia |
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| Transplant Co-Morbidity v0.0 | FLNC |
Bryony Thompson gene: FLNC was added gene: FLNC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 28356264; 30411535; 31924696 Phenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy |
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| Transplant Co-Morbidity v0.0 | FLNA |
Bryony Thompson gene: FLNA was added gene: FLNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FLNA were set to 32299270 Phenotypes for gene: FLNA were set to Macrothrombocytopaenia |
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| Transplant Co-Morbidity v0.0 | FLI1 |
Bryony Thompson gene: FLI1 was added gene: FLI1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: FLI1 were set to 28255014; 24100448; 26316623 Phenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443 |
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| Transplant Co-Morbidity v0.0 | FKRP |
Bryony Thompson gene: FKRP was added gene: FKRP was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKRP were set to PMID: 32914449 Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 |
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| Transplant Co-Morbidity v0.0 | FKBP10 |
Bryony Thompson gene: FKBP10 was added gene: FKBP10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968 |
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| Transplant Co-Morbidity v0.0 | FHOD3 |
Bryony Thompson gene: FHOD3 was added gene: FHOD3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FHOD3 were set to 30442288; 33586461; 32335906; 31742804 Phenotypes for gene: FHOD3 were set to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 |
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| Transplant Co-Morbidity v0.0 | FHL1 |
Bryony Thompson gene: FHL1 was added gene: FHL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 |
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| Transplant Co-Morbidity v0.0 | FGG |
Bryony Thompson gene: FGG was added gene: FGG was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGG were set to 3337908; 11001903; 11001902 Phenotypes for gene: FGG were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004 |
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| Transplant Co-Morbidity v0.0 | FGB |
Bryony Thompson gene: FGB was added gene: FGB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGB were set to 12393540; 16195396 Phenotypes for gene: FGB were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004 |
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| Transplant Co-Morbidity v0.0 | FGA |
Bryony Thompson gene: FGA was added gene: FGA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGA were set to 17295221; 11739173; 19073821; 31064749 Phenotypes for gene: FGA were set to Afibrinogenemia, congenital (MIM#202400) |
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| Transplant Co-Morbidity v0.0 | FERMT3 |
Bryony Thompson gene: FERMT3 was added gene: FERMT3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840 |
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| Transplant Co-Morbidity v0.0 | FBN1 |
Bryony Thompson gene: FBN1 was added gene: FBN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700 |
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| Transplant Co-Morbidity v0.0 | FAM46A |
Bryony Thompson gene: FAM46A was added gene: FAM46A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green, Victorian Clinical Genetics Services Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII, MIM# 617952 |
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| Transplant Co-Morbidity v0.0 | F9 |
Bryony Thompson gene: F9 was added gene: F9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: F9 were set to 33656538; 34015304; 19846852 Phenotypes for gene: F9 were set to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432; MONDO:0010604 |
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| Transplant Co-Morbidity v0.0 | F8 |
Bryony Thompson gene: F8 was added gene: F8 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: F8 were set to 2986011; 3097553 Phenotypes for gene: F8 were set to Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071; MONDO:0010602; Haemophilia A, MIM# 306700 |
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| Transplant Co-Morbidity v0.0 | F7 |
Bryony Thompson gene: F7 was added gene: F7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F7 were set to 12181036 Phenotypes for gene: F7 were set to MONDO:0009211; Factor VII deficiency, MIM# 227500 |
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| Transplant Co-Morbidity v0.0 | F5 |
Bryony Thompson gene: F5 was added gene: F5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F5 were set to MONDO:0009210; Factor V deficiency, MIM# 227400; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; MONDO:0008560; Thrombophilia due to activated protein C resistance, MIM# 188055 |
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| Transplant Co-Morbidity v0.0 | F2 |
Bryony Thompson gene: F2 was added gene: F2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: F2 were set to 30297698 Phenotypes for gene: F2 were set to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD; {Stroke, ischemic, susceptibility to} 601367 Mu Mode of pathogenicity for gene: F2 was set to Other |
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| Transplant Co-Morbidity v0.0 | F13B |
Bryony Thompson gene: F13B was added gene: F13B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F13B were set to 26247044; 20331752 Phenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM#613235 |
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| Transplant Co-Morbidity v0.0 | F13A1 |
Bryony Thompson gene: F13A1 was added gene: F13A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F13A1 were set to 1644910; 10027709; 7727776; 32060721; 33802692 Phenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187 |
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| Transplant Co-Morbidity v0.0 | F11 |
Bryony Thompson gene: F11 was added gene: F11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: F11 were set to 18446632; 15026311 Phenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416 |
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| Transplant Co-Morbidity v0.0 | F10 |
Bryony Thompson gene: F10 was added gene: F10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: F10 were set to 2567188; 10746568; 2790181; 12028042 Phenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600; MONDO:0009212 |
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| Transplant Co-Morbidity v0.0 | ETV6 |
Bryony Thompson gene: ETV6 was added gene: ETV6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ETV6 were set to 25807284; 25581430 Phenotypes for gene: ETV6 were set to Thrombocytopaenia 5, MIM# 616216 |
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| Transplant Co-Morbidity v0.0 | ENG |
Bryony Thompson gene: ENG was added gene: ENG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ENG were set to 34012068 Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300 |
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| Transplant Co-Morbidity v0.0 | EIF2B1 |
Bryony Thompson gene: EIF2B1 was added gene: EIF2B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green Mode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF2B1 were set to 31882561 Phenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related |
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| Transplant Co-Morbidity v0.0 | DTNBP1 |
Bryony Thompson gene: DTNBP1 was added gene: DTNBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DTNBP1 were set to 23364359; 30990103; 12923531; 28259707 Phenotypes for gene: DTNBP1 were set to MONDO:0013559; Hermansky-Pudlak syndrome 7, MIM# 614076 |
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| Transplant Co-Morbidity v0.0 | DSP |
Bryony Thompson gene: DSP was added gene: DSP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSP were set to 24938629; 20864495; 22240500; 25765472; 11063735; 24108106; 31073624; 15941723; 31983221; 21397041; 23954618; 30345701; 33831308 Phenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Carvajal syndrome; Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676 |
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| Transplant Co-Morbidity v0.0 | DSG2 |
Bryony Thompson gene: DSG2 was added gene: DSG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DSG2 were set to 33831308 Phenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 |
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| Transplant Co-Morbidity v0.0 | DSC2 |
Bryony Thompson gene: DSC2 was added gene: DSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DSC2 were set to 28339476; 18957847; 23863954; 17963498; 17033975; 17186466; 21062920; 33831308 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 |
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| Transplant Co-Morbidity v0.0 | DMD |
Bryony Thompson gene: DMD was added gene: DMD was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: DMD were set to 26066469 Phenotypes for gene: DMD were set to Cardiomyopathy, dilated, 3B (MIM#302045) |
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| Transplant Co-Morbidity v0.0 | DIAPH1 |
Bryony Thompson gene: DIAPH1 was added gene: DIAPH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DIAPH1 were set to 27808407]; 26912466 Phenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 |
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| Transplant Co-Morbidity v0.0 | DES |
Bryony Thompson gene: DES was added gene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896 Phenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419 |
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| Transplant Co-Morbidity v0.0 | CYP27A1 |
Bryony Thompson gene: CYP27A1 was added gene: CYP27A1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CYP27A1 were set to 30720493; 20301583; 2019602 Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700 |
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| Transplant Co-Morbidity v0.0 | CYCS |
Bryony Thompson gene: CYCS was added gene: CYCS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYCS were set to 24326104; 30051457; 18345000 Phenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004 |
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| Transplant Co-Morbidity v0.0 | CSRP3 |
Bryony Thompson gene: CSRP3 was added gene: CSRP3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CSRP3 were set to 18505755; 30681346 Phenotypes for gene: CSRP3 were set to Cardiomyopathy, hypertrophic, 12, MIM# 612124 |
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| Transplant Co-Morbidity v0.0 | CRTAP |
Bryony Thompson gene: CRTAP was added gene: CRTAP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRTAP were set to 21955071; 17192541; 19846465 Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII MIM#610682 |
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| Transplant Co-Morbidity v0.0 | CREB3L1 |
Bryony Thompson gene: CREB3L1 was added gene: CREB3L1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CREB3L1 were set to 24079343; 29936144; 30657919; 28817112 Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229 |
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| Transplant Co-Morbidity v0.0 | COPB2 |
Bryony Thompson gene: COPB2 was added gene: COPB2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 34450031 Phenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884 |
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| Transplant Co-Morbidity v0.0 | COL3A1 |
Bryony Thompson gene: COL3A1 was added gene: COL3A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, MIM# 130050 |
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| Transplant Co-Morbidity v0.0 | COL1A2 |
Bryony Thompson gene: COL1A2 was added gene: COL1A2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL1A2 were set to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120 |
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| Transplant Co-Morbidity v0.0 | COL1A1 |
Bryony Thompson gene: COL1A1 was added gene: COL1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: COL1A1 were set to Osteogenesis imperfecta |
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| Transplant Co-Morbidity v0.0 | CHST14 |
Bryony Thompson gene: CHST14 was added gene: CHST14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 |
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| Transplant Co-Morbidity v0.0 | CDKN2A |
Bryony Thompson gene: CDKN2A was added gene: CDKN2A was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Transplant Co-Morbidity v0.0 | CDK4 |
Bryony Thompson gene: CDK4 was added gene: CDK4 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408 |
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| Transplant Co-Morbidity v0.0 | CDC42 |
Bryony Thompson gene: CDC42 was added gene: CDC42 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC42 were set to 29394990 Phenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737 |
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| Transplant Co-Morbidity v0.0 | CCDC134 |
Bryony Thompson gene: CCDC134 was added gene: CCDC134 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CCDC134 were set to 32181939; 35019224; 34204301 Phenotypes for gene: CCDC134 were set to Osteogenesis imperfecta, type XXII, MIM#619795 |
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| Transplant Co-Morbidity v0.0 | CASR |
Bryony Thompson gene: CASR was added gene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CASR were set to 22620673 Phenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200 |
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| Transplant Co-Morbidity v0.0 | CASQ2 |
Bryony Thompson gene: CASQ2 was added gene: CASQ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CASQ2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASQ2 were set to 16908766; 11704930; 34012068 Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 |
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| Transplant Co-Morbidity v0.0 | CALM3 |
Bryony Thompson gene: CALM3 was added gene: CALM3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CALM3 were set to 25460178; 31454269 Phenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782 |
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| Transplant Co-Morbidity v0.0 | CALM2 |
Bryony Thompson gene: CALM2 was added gene: CALM2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CALM2 were set to 31983240; 31170290 Phenotypes for gene: CALM2 were set to Long QT syndrome 15 616249; idopathic VF; sudden unexplained death |
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| Transplant Co-Morbidity v0.0 | CALM1 |
Bryony Thompson gene: CALM1 was added gene: CALM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CALM1 were set to 31170290 Phenotypes for gene: CALM1 were set to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916 |
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| Transplant Co-Morbidity v0.0 | CACNA1S |
Bryony Thompson gene: CACNA1S was added gene: CACNA1S was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility 5, MIM# 601887 |
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| Transplant Co-Morbidity v0.0 | CACNA1C |
Bryony Thompson gene: CACNA1C was added gene: CACNA1C was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CACNA1C were set to 31983240 Phenotypes for gene: CACNA1C were set to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005 |
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| Transplant Co-Morbidity v0.0 | C1QBP |
Bryony Thompson gene: C1QBP was added gene: C1QBP was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713 |
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| Transplant Co-Morbidity v0.0 | BRCA2 |
Bryony Thompson gene: BRCA2 was added gene: BRCA2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA2 were set to Breast-ovarian cancer, familial, 2, MIM#612555 |
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| Transplant Co-Morbidity v0.0 | BRCA1 |
Bryony Thompson gene: BRCA1 was added gene: BRCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1, MIM# 604370 |
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| Transplant Co-Morbidity v0.0 | BMPR1A |
Bryony Thompson gene: BMPR1A was added gene: BMPR1A was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900 |
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| Transplant Co-Morbidity v0.0 | BMP1 |
Bryony Thompson gene: BMP1 was added gene: BMP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BMP1 were set to 25214535; 25402547; 22052668; 22482805 Phenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856 |
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| Transplant Co-Morbidity v0.0 | BLOC1S6 |
Bryony Thompson gene: BLOC1S6 was added gene: BLOC1S6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S6 were set to 29054114; 33543539; 22461475; 26575419; 32245340; 10610180 Phenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171 |
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| Transplant Co-Morbidity v0.0 | BLOC1S5 |
Bryony Thompson gene: BLOC1S5 was added gene: BLOC1S5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S5 were set to PMID: 32565547 Phenotypes for gene: BLOC1S5 were set to Hermansky Pudlak syndrome type 11, MIM#619172 |
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| Transplant Co-Morbidity v0.0 | BLOC1S3 |
Bryony Thompson gene: BLOC1S3 was added gene: BLOC1S3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S3 were set to 32687635; 16385460; 22709368 Phenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560 |
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| Transplant Co-Morbidity v0.0 | BAP1 |
Bryony Thompson gene: BAP1 was added gene: BAP1 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327 |
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| Transplant Co-Morbidity v0.0 | BAG5 |
Bryony Thompson gene: BAG5 was added gene: BAG5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BAG5 were set to 35044787 Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747 |
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| Transplant Co-Morbidity v0.0 | BAG3 |
Bryony Thompson gene: BAG3 was added gene: BAG3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAG3 were set to 25448463; 24623017; 21353195; 29323723; 28737513; 27391596; 25008357; 35802134; 30442290; 31983221; 33947203; 28211974 Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479; Myopathy, myofibrillar, 6, MIM# 612954 |
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| Transplant Co-Morbidity v0.0 | B4GALT7 |
Bryony Thompson gene: B4GALT7 was added gene: B4GALT7 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GALT7 were set to 26940150 Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 |
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| Transplant Co-Morbidity v0.0 | B3GALT6 |
Bryony Thompson gene: B3GALT6 was added gene: B3GALT6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to 23664118; 23664117 Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 |
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| Transplant Co-Morbidity v0.0 | ATP7B |
Bryony Thompson gene: ATP7B was added gene: ATP7B was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ATP7B were set to Wilson disease, MIM# 277900 |
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| Transplant Co-Morbidity v0.0 | ARPC1B |
Bryony Thompson gene: ARPC1B was added gene: ARPC1B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC1B were set to 29127144; 27965109; 28368018; 30254128 Phenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718 |
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| Transplant Co-Morbidity v0.0 | APOE |
Bryony Thompson gene: APOE was added gene: APOE was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy |
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| Transplant Co-Morbidity v0.0 | APOC2 |
Bryony Thompson gene: APOC2 was added gene: APOC2 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: APOC2 were set to 32280258; 32292609; PMID: 32562799; 26044956 Phenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib MIM#207750 |
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| Transplant Co-Morbidity v0.0 | APOB |
Bryony Thompson gene: APOB was added gene: APOB was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia |
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| Transplant Co-Morbidity v0.0 | APOA5 |
Bryony Thompson gene: APOA5 was added gene: APOA5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: APOA5 were set to Hyperchylomicronemia |
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| Transplant Co-Morbidity v0.0 | APOA1 |
Bryony Thompson gene: APOA1 was added gene: APOA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: APOA1 were set to 16023124 Phenotypes for gene: APOA1 were set to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836 |
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| Transplant Co-Morbidity v0.0 | APC |
Bryony Thompson gene: APC was added gene: APC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: APC were set to Adenomatous polyposis coli, MIM# 175100 |
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| Transplant Co-Morbidity v0.0 | AP3B1 |
Bryony Thompson gene: AP3B1 was added gene: AP3B1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336 Phenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997 |
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| Transplant Co-Morbidity v0.0 | ANO6 |
Bryony Thompson gene: ANO6 was added gene: ANO6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ANO6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANO6 were set to 21107324; 27879994; 11895776; 27634832 Phenotypes for gene: ANO6 were set to MONDO:0009885; Scott syndrome, MIM# 262890 |
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| Transplant Co-Morbidity v0.0 | ANO5 |
Bryony Thompson gene: ANO5 was added gene: ANO5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO5 were set to 30712070; 29175271; 15124103; 30641283 Phenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260 |
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| Transplant Co-Morbidity v0.0 | ANKRD26 |
Bryony Thompson gene: ANKRD26 was added gene: ANKRD26 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANKRD26 were set to 21211618 Phenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000 |
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| Transplant Co-Morbidity v0.0 | ALPL |
Bryony Thompson gene: ALPL was added gene: ALPL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia |
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| Transplant Co-Morbidity v0.0 | ALPK3 |
Bryony Thompson gene: ALPK3 was added gene: ALPK3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 27106955; 26846950; 32480058 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#618052 |
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| Transplant Co-Morbidity v0.0 | ALMS1 |
Bryony Thompson gene: ALMS1 was added gene: ALMS1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALMS1 were set to Alstrom syndrome |
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| Transplant Co-Morbidity v0.0 | AKT2 |
Bryony Thompson gene: AKT2 was added gene: AKT2 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AKT2 were set to 17327441; 15166380; 17576055 Phenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes |
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| Transplant Co-Morbidity v0.0 | ADAMTS13 |
Bryony Thompson gene: ADAMTS13 was added gene: ADAMTS13 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS13 were set to 30312976; 11586351 Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150 |
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| Transplant Co-Morbidity v0.0 | ACVRL1 |
Bryony Thompson gene: ACVRL1 was added gene: ACVRL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVRL1 were set to 34012068 Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376 |
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| Transplant Co-Morbidity v0.0 | ACTN1 |
Bryony Thompson gene: ACTN1 was added gene: ACTN1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTN1 were set to 23434115 Phenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193 |
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| Transplant Co-Morbidity v0.0 | ACTC1 |
Bryony Thompson gene: ACTC1 was added gene: ACTC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTC1 were set to 26432839; 20600154; 30384889; 14605248; 31430208; 9563954 Phenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424 |
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| Transplant Co-Morbidity v0.0 | ACTB |
Bryony Thompson gene: ACTB was added gene: ACTB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTB were set to 30315159 Phenotypes for gene: ACTB were set to Syndromic thrombocytopaenia |
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| Transplant Co-Morbidity v0.0 | ACTA2 |
Bryony Thompson gene: ACTA2 was added gene: ACTA2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, MIM# 611788 |
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| Transplant Co-Morbidity v0.0 | ABCG8 |
Bryony Thompson gene: ABCG8 was added gene: ABCG8 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCG8 were set to 32546081; 23556150 Phenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250 |
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| Transplant Co-Morbidity v0.0 | ABCG5 |
Bryony Thompson gene: ABCG5 was added gene: ABCG5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCG5 were set to Sitosterolaemia 2, MIM# 618666 |
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| Transplant Co-Morbidity v0.0 | ABCC8 |
Bryony Thompson gene: ABCC8 was added gene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6 Mode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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| Transplant Co-Morbidity v0.0 | ABCA1 |
Bryony Thompson gene: ABCA1 was added gene: ABCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ABCA1 were set to 10431237; 10431236 Phenotypes for gene: ABCA1 were set to HDL deficiency, familial, 1, MIM# 604091; Tangier disease, MIM# 205400 |
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| Transplant Co-Morbidity v0.0 | Bryony Thompson Added panel Transplant Co-Morbidity Superpanel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1049 | DUSP7 |
Sangavi Sivagnanasundram gene: DUSP7 was added gene: DUSP7 was added to Mendeliome. Sources: Other Mode of inheritance for gene: DUSP7 was set to Unknown Publications for gene: DUSP7 were set to https://doi.org/10.1155/2023/4348290 Phenotypes for gene: DUSP7 were set to Acute Myeloid Leukemia (AML) Review for gene: DUSP7 was set to RED Added comment: New gene with an association in AML prognosis. Gao (2023) - Recruitment from three public AML cohorts - GSE71014, TARGET-AML, and TCGA-AML. The study results suggest that with an DUSP7 may affect AML progression in individuals by affecting the recruitment of local immune cells. Sources: Other |
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| Hereditary Neuropathy v0.205 | C12orf65 | Sangavi Sivagnanasundram reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23188110, 3479531, 24198383; Phenotypes: Spastic paraplegia 55 (MIM#615035); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1049 | PYROXD2 | Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1049 | PYROXD2 | Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1048 | PYROXD2 | Zornitza Stark Tag disputed tag was added to gene: PYROXD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1048 | PYROXD2 | Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.880 | PYROXD2 | Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.880 | PYROXD2 | Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.879 | PYROXD2 | Zornitza Stark Tag disputed tag was added to gene: PYROXD2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.879 | PYROXD2 | Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | ATM | Sangavi Sivagnanasundram reviewed gene: ATM: Rating: RED; Mode of pathogenicity: None; Publications: 20301790; Phenotypes: Ataxia-telangiectasia, MIM#208900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | AP1S1 | Sangavi Sivagnanasundram reviewed gene: AP1S1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23423674; Phenotypes: MEDNIK Syndrome (MONDO:0012251, MIM#609313); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | ABCA1 | Sangavi Sivagnanasundram reviewed gene: ABCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 4165386, 31751110; Phenotypes: Tangier Disease (MONDO:0008783, MIM#205400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | TSC1 |
Luisa Weiss gene: TSC1 was added gene: TSC1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC1 were set to 29706646; 34788679; 25817843 Phenotypes for gene: TSC1 were set to Focal cortical dysplasia, type II, somatic MIM#607341; Lymphangioleiomyomatosis MIM#606690; Tuberous sclerosis-1 MIM#191100 Review for gene: TSC1 was set to AMBER Added comment: Two patients in large cohort studies of children with cryptogenic CP and maternally inherited mutation in TSC1, parents were mildly affected. In addition, one patient with a VUS in TSC1 with cortical and movement abnormalities, but no clinical diagnosis of TS. Sources: Literature |
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| Cerebral Palsy v1.146 | TRAPPC9 |
Luisa Weiss gene: TRAPPC9 was added gene: TRAPPC9 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC9 were set to 33528536; 34540776; 36475161 Phenotypes for gene: TRAPPC9 were set to Intellectual developmental disorder, autosomal recessive MIM#13 613192 Review for gene: TRAPPC9 was set to GREEN Added comment: Two larger CP cohort studies with one patient each harboring biallelic TRAPPC9 mutations. No phenotypic information is given. In addition, one case report of a girl with CP and intellectual disability and biallelic TRAPPC9 mutations. Sources: Literature |
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| Cerebral Palsy v1.146 | TMX2 |
Luisa Weiss gene: TMX2 was added gene: TMX2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMX2 were set to 31735293 Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730 Added comment: Vandervore et al. published a larger study of several patients with neurological impariment and biallelic TMX2 mutations. 8 individuals out of 5 families had previously been diagnosed with CP. Most patients had severely impaired development and epilepsy. Sources: Literature |
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| Cerebral Palsy v1.146 | TH |
Luisa Weiss gene: TH was added gene: TH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 34788679 Phenotypes for gene: TH were set to Segawa syndrome, recessive MIM#605407 Review for gene: TH was set to AMBER Added comment: 2 individual cases in one large Chinese CP cohort study, both with compound heterozygous mutations. Sources: Literature |
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| Cerebral Palsy v1.146 | TEP1 |
Luisa Weiss gene: TEP1 was added gene: TEP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TEP1 were set to 34543729 Review for gene: TEP1 was set to GREEN Added comment: Wang et al. screened a large cohort of more than 600 CP patients from China and found several variants in TEP1, 11 of which were LoF, while no LoF variant was found in the control cohort. These children all had spastic CP. Among these 11 children, 6 children had birth asphyxia and neonatal encephalopathy. Compared to the total group with birth asphyxia (71/667), 6 patients with TEP1 LOF mutations had a significantly greater risk of birth asphyxia. They confirmed TEP1 as a risk factor for CP by cytological and animal models. Sources: Literature |
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| Cerebral Palsy v1.146 | TANGO2 |
Luisa Weiss gene: TANGO2 was added gene: TANGO2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TANGO2 were set to 33528536; 34364746 Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Review for gene: TANGO2 was set to GREEN Added comment: 3 individual patients in two large CP cohort study, both with biallelic larger deletions encompassing TANGO2. Phenotypic information is only given for one patient, this one showed slowly progressive spastic paraplegia and ataxia. Sources: Literature |
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| Cerebral Palsy v1.146 | SYNGAP1 |
Luisa Weiss gene: SYNGAP1 was added gene: SYNGAP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SYNGAP1 were set to 33528536; 31700678 Phenotypes for gene: SYNGAP1 were set to Intellectual developmental disorder, autosomal dominant 5 MIM#612621 Review for gene: SYNGAP1 was set to GREEN Added comment: Moreno de Luca et al. found 3 heterozygous de novo SYNGAP1 mutations in a large CP cohort study. In addition, van Eyk et al. found one non-maternally inherited VUS in a child with CP in a cohort study. Sources: Literature |
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| Cerebral Palsy v1.146 | SYNE1 |
Luisa Weiss gene: SYNE1 was added gene: SYNE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 34321325; 34816117 Phenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type MIM#618484; Emery-Dreifuss muscular dystrophy 4, autosomal dominant MIM#612998; Spinocerebellar ataxia, autosomal recessive 8 MIM#610743 Review for gene: SYNE1 was set to AMBER Added comment: Two cases each in two larger CP cohort studies, one with ataxic and one with spastic CP, with biallelic SYNE1 mutations. Sources: Literature |
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| Cerebral Palsy v1.146 | SUOX |
Luisa Weiss gene: SUOX was added gene: SUOX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUOX were set to 27289259; 34540776 Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency MIM#272300 Review for gene: SUOX was set to GREEN Added comment: Zaki et al. presented 3 individual cases in a larger cohort study harboring biallelic SUOX mutations and presenting with spastic quadriparesis, even though no formal CP diagnosis was given. In addition, two additional cases of patients with homozygous mutations in SUOX from a larger cohort study from Iran. Sources: Literature |
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| Cerebral Palsy v1.146 | STAMBP |
Luisa Weiss gene: STAMBP was added gene: STAMBP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: STAMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAMBP were set to 33528536; 23542699 Phenotypes for gene: STAMBP were set to Microcephaly-capillary malformation syndrome MIM#614261 Review for gene: STAMBP was set to GREEN Added comment: 2 cases in a larger CP cohort study with homozygous missense mutations in STAMBP, no phenotypic information is given. McDonnell et al. (23542699) presented a large cohort of previously published and unpublished patients with microcephaly-capillary malformation syndrome, which all had cutaneous abnormalities, developmental delay and epilepsy, but 8 of which presented with spastic quadriparesis. Overlap with CP is possible; however, additional phenotypic features seem to be present in any case. Sources: Literature |
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| Cerebral Palsy v1.146 | ST3GAL5 |
Luisa Weiss gene: ST3GAL5 was added gene: ST3GAL5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ST3GAL5 were set to 34540776; 30185102; 25131622; 24026681 Phenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome MIM#609056 Review for gene: ST3GAL5 was set to GREEN Added comment: Several reports on patients with different forms of CP (dystonic, quadriplegic or spastic) later found to harbor biallelic ST3GAL5 mutations. One patient in a larger CP cohort (34540776) with a homozygous VUS, others with pathogenic mutations. Note that the patients which were presented with photographs all showed cutaneous abnormalities as well. Sources: Literature |
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| Cerebral Palsy v1.146 | SPTBN2 | Luisa Weiss reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31066025, 25981959, 31721007; Phenotypes: Spinocerebellar ataxia 5 MIM#600224, Spinocerebellar ataxia, autosomal recessive 14 MIM#615386; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SPTBN2 | Luisa Weiss Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | SPTBN2 |
Luisa Weiss gene: SPTBN2 was added gene: SPTBN2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 31066025; 25981959; 31721007 Phenotypes for gene: SPTBN2 were set to Spinocerebellar ataxia 5 MIM#600224; Spinocerebellar ataxia, autosomal recessive 14 MIM#615386 Added comment: 5 patients presented in an overview study with ataxic CP and heterozygous (4/5) or biallelic SPTBN2 (1/5) mutations. In addition, one more case report and another case in a larger CP cohort study, all children presenting with ataxic CP. Note both heterozygous and biallelic mutations have been reported to cause ataxic CP in children, even though heterozygous mutations have previously been associated with adult onset spinocerebellar ataxia. Sources: Literature |
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| Dystonia and Chorea v0.228 | EIF4A2 | Zornitza Stark Marked gene: EIF4A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.228 | EIF4A2 | Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.228 | EIF4A2 | Zornitza Stark Phenotypes for gene: EIF4A2 were changed from DYSTONIA; TREMOR to Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.227 | EIF4A2 | Zornitza Stark Classified gene: EIF4A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.227 | EIF4A2 | Zornitza Stark Gene: eif4a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.226 | EIF4A2 | Zornitza Stark edited their review of gene: EIF4A2: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.226 | EIF4A2 | Zornitza Stark reviewed gene: EIF4A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO:0700092), EIF4A2-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.146 | PTPN11 | Zornitza Stark Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1 MIM#151100; Leukemia, juvenile myelomonocytic, somatic MIM#607785; Metachondromatosis MIM#156250; Noonan syndrome MIM#163950 to LEOPARD syndrome 1 MIM#151100; Noonan syndrome MIM#163950 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.145 | PTPN11 | Zornitza Stark Marked gene: PTPN11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.145 | PTPN11 | Zornitza Stark Added comment: Comment when marking as ready: Very little phenotypic overlap between NS and CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.145 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.145 | PTPN11 | Zornitza Stark Classified gene: PTPN11 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.145 | PTPN11 | Zornitza Stark Gene: ptpn11 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1875 | TMEM63B | Zornitza Stark Marked gene: TMEM63B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1875 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1875 | TMEM63B | Zornitza Stark Classified gene: TMEM63B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1875 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1874 | TMEM63B |
Zornitza Stark gene: TMEM63B was added gene: TMEM63B was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Review for gene: TMEM63B was set to GREEN Added comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5309 | TMEM63B | Zornitza Stark Marked gene: TMEM63B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5309 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5309 | TMEM63B | Zornitza Stark Classified gene: TMEM63B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5309 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5308 | TMEM63B |
Zornitza Stark gene: TMEM63B was added gene: TMEM63B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related Review for gene: TMEM63B was set to GREEN Added comment: 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). Sources: Literature |
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| Mendeliome v1.1048 | TMEM63B | Zornitza Stark Marked gene: TMEM63B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1048 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1048 | TMEM63B | Zornitza Stark Phenotypes for gene: TMEM63B were changed from developmental and epileptic encephalopathy, MONDO:0100062 to developmental and epileptic encephalopathy, MONDO:0100062, TMEM63B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1047 | TMEM63B | Zornitza Stark Classified gene: TMEM63B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1047 | TMEM63B | Zornitza Stark Gene: tmem63b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Marked gene: DHX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Marked gene: DHX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Added comment: Comment when marking as ready: LoF variants caused mild NDD phenotypes and nuclear localization signal (NLS) missense variants caused severe NDD. CMT2-associated missense variants caused aberrant nucleolar DHX9 accumulation, a phenomenon previously associated with cellular stress. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Marked gene: DHX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Classified gene: DHX9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5307 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5306 | DHX9 |
Zornitza Stark gene: DHX9 was added gene: DHX9 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to Neurodevelopmental disorder, MONDO:0700092, DHX9-related Review for gene: DHX9 was set to GREEN Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy. Sources: Literature |
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| Mendeliome v1.1046 | DHX9 | Zornitza Stark Marked gene: DHX9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Classified gene: DHX9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1046 | DHX9 | Zornitza Stark Gene: dhx9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.111 | CASR | Zornitza Stark Marked gene: CASR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.111 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.111 | CASR | Zornitza Stark Phenotypes for gene: CASR were changed from Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification to Hypocalciuric hypercalcemia, type I, MIM# 145980; Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.110 | CASR | Zornitza Stark Classified gene: CASR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal Dyskinesia v0.110 | CASR | Zornitza Stark Gene: casr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Marked gene: MCOLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.207 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.206 | MCOLN1 |
Zornitza Stark gene: MCOLN1 was added gene: MCOLN1 was added to Syndromic Retinopathy. Sources: Expert list Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 17239335; 25156245; 35205297 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, MIM# 252650; MONDO:0009653 Review for gene: MCOLN1 was set to GREEN Added comment: patients with MCOLN1-associated mucolipidosis IV present with ocular phenotypes including retinal dystrophy. Mucolipidosis type IV caused by biallelic variants in MCOLN1 gene ism a lysosomal disease that primarily affects the central nervous system. It manifests with severely impaired psychomotor development, and later onset, gradual neurological decline paralleled by cerebellar degeneration and neuroaxonal injury. In addition, they also manifest retinal dystrophy, which develops in the first years of life and rapidly progresses in adolescence, leaving patients legally blind by the second decade (PMID:33965501). The following are some of the reported cases: PMID:17239335 - Compound heterozygous variants in MCOLN1 were identified in a patient with mucolipidosis type IV (ML IV), who had low visual acuity and cloudy corneas since 2 years of age, progressive decrease in visual acuity since the age of 9 years. PMID:25156245 - An Italian child with ML IV was identified with homozygous MCOLN1 variants (c.395_397delCTG & c.468_474dupTTGGACC), while his parents were heterozygous for the same variants. Ophthalmological manifestations included esotropia, bilateral corneal clouding and severe myopia. PMID:35205297 - Six patients from two Omani families with ML IV were identified with a novel variant (c.237+5G>A) in MCOLN1 gene, which is not present in control subjects screened with a high-resolution melting (HRM) assay. The patients displayed ophthalmic manifestations including corneal haziness, pigmentary retinopathy and ERG-rod cone dysfunction. Sources: Expert list |
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| Cerebral Palsy v1.144 | SPR |
Luisa Weiss gene: SPR was added gene: SPR was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPR were set to 33528536; 34540776; 22522443 Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency MIM#612716 Review for gene: SPR was set to GREEN Added comment: Two large CP cohort studies with one case each presenting with CP and biallelic SPR mutations. In one large study from 2012, 43 individuals with Sepiapterin reductase deficiency (SRD) were clinically analyzed, diagnoses of cerebral palsy (CP) were common, both hypotonic and dystonic. Sources: Literature |
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| Cerebral Palsy v1.144 | SPATA5 |
Luisa Weiss gene: SPATA5 was added gene: SPATA5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPATA5 were set to 33528536 Phenotypes for gene: SPATA5 were set to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577 Review for gene: SPATA5 was set to GREEN Added comment: 4 individual cases in one large CP cohort study with biallelic SPATA5 mutations. Spasticity has been described in other patients as well while developmental delay seems to be mostly present. Sources: Literature |
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| Cerebral Palsy v1.144 | SON |
Luisa Weiss gene: SON was added gene: SON was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SON were set to 33528536 Phenotypes for gene: SON were set to ZTTK syndrome MIM#617140 Review for gene: SON was set to AMBER Added comment: 2 individual cases in one large CP cohort study. However, usually ZITK syndrome is a multisystem disorder and intellectual disabilities, and organ malformations seem to be leading phenotypic features. Sources: Literature |
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| Cerebral Palsy v1.144 | SNX14 |
Luisa Weiss gene: SNX14 was added gene: SNX14 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNX14 were set to 34540776; 29997391 Phenotypes for gene: SNX14 were set to Spinocerebellar ataxia, autosomal recessive 20 MIM#616354 Review for gene: SNX14 was set to AMBER Added comment: One case in a large CP cohort study. In addition, one patient in a large cohort study on congenital ataxia, which can present as dystonic cerebral palsy. Sources: Literature |
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| Cerebral Palsy v1.144 | SMARCB1 | Luisa Weiss reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234; Phenotypes: Coffin-Siris syndrome 3 MIM#614608, Rhabdoid tumors, somatic MIM#609322; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | SLITRK2 |
Luisa Weiss gene: SLITRK2 was added gene: SLITRK2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLITRK2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLITRK2 were set to 35840571 Phenotypes for gene: SLITRK2 were set to Intellectual developmental disorder, X-linked MIM#301107 Review for gene: SLITRK2 was set to GREEN Added comment: Case study of several patients harboring SLITRK2 variants and neurodevelopmental delay. Three patients reported with spasticity, diplegic cerebral palsy and dystonic diplegia, respectively. Functional tests show impaired neuronal function and knock-out mice showed abnormal gait. Sources: Literature |
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| Cerebral Palsy v1.144 | SLC5A6 |
Luisa Weiss gene: SLC5A6 was added gene: SLC5A6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC5A6 were set to 33528536; 21112253; 33098801 Phenotypes for gene: SLC5A6 were set to Parkinsonism-dystonia, infantile, 1 MIM#613135 Review for gene: SLC5A6 was set to GREEN Added comment: 21112253 presents a clinical overview of 11 children with biallelic SLC6A3 mutations, 7 of which were initially diagnosed with CP. In addition, two more CP cohort studies with one patient each harboring SLC6A3 mutations. Sources: Literature |
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| Cerebral Palsy v1.144 | SLC16A2 |
Luisa Weiss gene: SLC16A2 was added gene: SLC16A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SLC16A2 were set to 33528536; 35076175; 25280894 Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome MIM#300523 Review for gene: SLC16A2 was set to GREEN Added comment: Four individual cases in three large CP cohort studies presenting as dystonic or spastic CP. Mutations described were both nonsense and missense mutations and could be inherited maternally or de novo. Sources: Literature |
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| Cerebral Palsy v1.144 | SLC13A5 |
Luisa Weiss gene: SLC13A5 was added gene: SLC13A5 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC13A5 were set to 34364746; 34540776 Phenotypes for gene: SLC13A5 were set to Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Review for gene: SLC13A5 was set to AMBER Added comment: Two large case studies with one patient described each harboring homozygous SLC13A5 variants, however, in PMID 34540776 this variant was defined as a VUS rather than a pathogenic mutation. In other described cases epilepsy and ID seem to be the main phenotypic features, while ataxia and spasticity have been desribed. Sources: Literature |
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| Cerebral Palsy v1.144 | SHANK3 | Luisa Weiss reviewed gene: SHANK3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 33098801; Phenotypes: Phelan-McDermid syndrome MIM#606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | SEPSECS |
Luisa Weiss gene: SEPSECS was added gene: SEPSECS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 33528536; 35252561; 34540776; 36085396 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D MIM#613811 Review for gene: SEPSECS was set to GREEN Added comment: Biallelic SEPSECS mutations have been described to cause Pontocerebellar hypoplasia type 2D, which usually presents with progressive microcephaly, progressive brain atrophy, ID and variable seizures and movement disorders. There have been two cases in two large CP cohort studies (33528536, 34540776) which have been proven to harbor biallelic SEPSECS variants, however, in PMID 34540776 these can only be formally classified as VUS. In addition, there is a case report (PMID 35252561) of a man presenting with no CP but spastic paraparesis and only slow disease progression in adult life (patient 48 years old at time of presentation). PMID 36085396 provides a literature review of described PCD2D patients, 72.7% of which have presented with spastic or dystonic quadriplegia, so there is significant phenotypic overlap with CP. Sources: Literature |
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| Cerebral Palsy v1.144 | SATB2 |
Luisa Weiss gene: SATB2 was added gene: SATB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SATB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SATB2 were set to 33528536; 35076175 Phenotypes for gene: SATB2 were set to Glass syndrome MIM#612313 Review for gene: SATB2 was set to GREEN Added comment: 4 patients in 3 large CP cohort studies were found to have heterozygous de novo SATB2 mutations, three of which were nonsense and one was a missense mutation. Note that in one patient an additional acute perinatal event (neonatal compartment syndrome, intracranial hemorrhage) was present which might have added to the CP phenotype. Sources: Literature |
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| Cerebral Palsy v1.144 | SACS |
Luisa Weiss gene: SACS was added gene: SACS was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 33528536; 34816117; 29997391 Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Review for gene: SACS was set to GREEN Added comment: Multiple large and small cohort studies with more than 3 individual patients initially diagnosed as cerebral palsy and later diagnosed with biallelic SACS mutations. SACS is a known disease gene for spastic ataxia of Charlevoix-Saguenay, which can resemble CP but usually has a progressive course of disease. Sources: Literature |
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| Cerebral Palsy v1.144 | RARS2 |
Luisa Weiss gene: RARS2 was added gene: RARS2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RARS2 were set to 34077496; 34717047 Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6 MIM#611523 Review for gene: RARS2 was set to GREEN Added comment: Two male patients in a large CP cohort study with either spastic quadriplegic or dyskinetic CP. Both frameshift and missense mutations have been described. PMID 34717047 presents a good overview of published cases with RARS2 mutations. Even though none of them were officially diagnosed with cerebral palsy, many showed progressive movement disorders like spastic quadriplegia, thus possibly presenting as CP. Sources: Literature |
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| Cerebral Palsy v1.144 | RAB3GAP1 |
Luisa Weiss gene: RAB3GAP1 was added gene: RAB3GAP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB3GAP1 were set to 33528536; 16532399; 27081543 Phenotypes for gene: RAB3GAP1 were set to Martsolf syndrome 2 MIM#619420; Warburg micro syndrome MIM#600118 Review for gene: RAB3GAP1 was set to GREEN Added comment: Multiple case reports of patients with either Martsolf syndrome or Warburg micro syndrome and spastic diplegia or cerebral palsy, but all patients also presented with eye phenotype. In addition, two individuals in a large CP cohort study (no additional phenotypic information given). Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5305 | NLGN4X | Zornitza Stark Publications for gene: NLGN4X were set to 12669065; 18231125; 10071191; 29428674 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5304 | NLGN4X | Zornitza Stark Classified gene: NLGN4X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5304 | NLGN4X | Zornitza Stark Gene: nlgn4x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | PTPN23 |
Luisa Weiss gene: PTPN23 was added gene: PTPN23 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN23 were set to 31395947; 25558065; 34064836 Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity MIM#618890 Review for gene: PTPN23 was set to AMBER Added comment: Biallelic PTPN23 mutations have been associated with neurodevelopmental delay and structural brain abnormalities in an initial study of 7 patients. In this cohort, one had the initial diagnosis of cerebral palsy (patient 6), but one other patient (patient 4) showed spasticity and contractures and thus phenotypic overlap. In addition, this study referred to another study (25558065), in which a family with PTPN23 mutations was described. Even though in PMID:31395947 this family was described as having CP, this cannot be confirmed in the initial report. Note that final exon frameshift mutations in PTPN23 have been associated complex hereditary spastic paraplegia which might hint to a phenotypic overlap to CP. Sources: Literature |
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| Bone Marrow Failure v1.44 | CLPB |
Pasquale Barbaro gene: CLPB was added gene: CLPB was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: CLPB was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: CLPB were set to PMID: 34115842, 25597510, 25597511 Phenotypes for gene: CLPB were set to congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy Penetrance for gene: CLPB were set to unknown Mode of pathogenicity for gene: CLPB was set to Other Review for gene: CLPB was set to GREEN Added comment: Biallelic variants identified have been loss of function, and cause a severe syndrome associated with 3-MGA, cataracts, developmental delay, epilepsy. Heterozygous variants have been found in one paper (Warren et al) in 10 patients with non-syndromic congenital neutropenia and appear to cause a dominant negative effect. Sources: Expert list |
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| Cerebral Palsy v1.144 | PTPN11 |
Luisa Weiss gene: PTPN11 was added gene: PTPN11 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 33528536; 23799168 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 MIM#151100; Leukemia, juvenile myelomonocytic, somatic MIM#607785; Metachondromatosis MIM#156250; Noonan syndrome MIM#163950 Review for gene: PTPN11 was set to GREEN Added comment: One case report of a girl with hearing loss and CP later diagnosed as having a heterozygous de novo missense mutation in PTPN11. In addition, two individuals in a large CP cohort study with heterozygous missense PTPN11 mutations. No information about inheritance is given in these cases. Note that there is no information about additional phenotypic features in these two cases, but the girl in the case report presented with the typical clinical picture of Noonan Syndrome with multiple lentigines (NSML, formerly known as Leopard syndrome). Sources: Literature |
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| Dystonia and Chorea v0.226 | EIF4A2 |
Shekeeb Mohammad gene: EIF4A2 was added gene: EIF4A2 was added to Dystonia - complex. Sources: Literature Mode of inheritance for gene: EIF4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EIF4A2 were set to 37485550 Phenotypes for gene: EIF4A2 were set to DYSTONIA; TREMOR Penetrance for gene: EIF4A2 were set to unknown Review for gene: EIF4A2 was set to GREEN Added comment: Sources: Literature |
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| Mendeliome v1.1045 | TMEM63B |
Achchuthan Shanmugasundram changed review comment from: There is sufficient evidence for this gene to be included with green rating in intellectual disability and epilepsy panels. 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). Sources: Literature; to: There is sufficient evidence for this gene to be included with green rating in 'Intellectual disability syndromic and non-syndromic' and 'Genetic epilepsy' panels. 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). Sources: Literature |
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| Mendeliome v1.1045 | TMEM63B |
Achchuthan Shanmugasundram gene: TMEM63B was added gene: TMEM63B was added to Mendeliome. Sources: Literature Mode of inheritance for gene: TMEM63B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TMEM63B were set to 37421948 Phenotypes for gene: TMEM63B were set to developmental and epileptic encephalopathy, MONDO:0100062 Review for gene: TMEM63B was set to GREEN Added comment: There is sufficient evidence for this gene to be included with green rating in intellectual disability and epilepsy panels. 17 unrelated individuals with severe early-onset developmental and epileptic encephalopathy (DEE), intellectual disability, and severe motor and cortical visual impairment were identified with ten distinct heterozygous variants inTMEM63B. The variants occurred de novo in 16/17 individuals for whom parental DNA was available and either missense or in-frame. All individuals had global developmental delay, with moderate-to-profound intellectual disability and severe motor impairment. All individuals had early-onset drug-resistant epilepsy, whose onset ranged from birth to 3 years but occurred within the first year in 14/17 (82%) and in the first month of life in 6/17 (35%). Sources: Literature |
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| Mendeliome v1.1045 | DHX9 |
Achchuthan Shanmugasundram gene: DHX9 was added gene: DHX9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DHX9 were set to 37467750 Phenotypes for gene: DHX9 were set to neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071; Charcot-Marie-Tooth disease, MONDO:0015626 Review for gene: DHX9 was set to GREEN Added comment: PMID:37467750 - 17 unrelated individuals were identified with de novo, ultra-rare, heterozygous missense or loss-of-function DHX9 variants, of which 14 individuals were reported with a neurodevelopmental disorder (NDD) and three were reported with Charcot-Marie-Tooth disease (CMT). All 14 cases with NDD had developmental delay, of which eight were reported with intellectual disability (4 severe, 1 moderate, 3 mild). Two cases did not have ID, one had borderline ID and three cases were too young (0-5 years old). The three cases with CMT presented with adult-onset axonal neuropathy. Sources: Literature |
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| Paroxysmal Dyskinesia v0.109 | CASR |
Shekeeb Mohammad gene: CASR was added gene: CASR was added to Paroxysmal Dyskinesia. Sources: Literature Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CASR were set to 34913197 Phenotypes for gene: CASR were set to Hypocalciuric Hypercalcemic; Hyperparathyroidism; paroxysmal dyskinesia; brain calcification Review for gene: CASR was set to GREEN Added comment: Sources: Literature |
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| Mendeliome v1.1045 | MCOLN1 | Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17239335, 25156245, 33965501, 35205297; Phenotypes: Mucolipidosis IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | GRIN1 | Zornitza Stark Marked gene: GRIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | GRIN1 | Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | GRIN1 | Zornitza Stark Classified gene: GRIN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.144 | GRIN1 | Zornitza Stark Gene: grin1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1045 | KLK1 | Zornitza Stark Phenotypes for gene: KLK1 were changed from [Kallikrein, decreased urinary activity of] 615953 to [Kallikrein, decreased urinary activity of] 615953; Pulmonary arterial hypertension MONDO:0015924 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1044 | KLK1 | Zornitza Stark Publications for gene: KLK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1043 | KLK1 | Zornitza Stark Mode of inheritance for gene: KLK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1042 | KLK1 |
Zornitza Stark edited their review of gene: KLK1: Added comment: Association with PAH: PMID: 31727138 screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2. PMID: 17573418 Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs. Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with LIMITED evidence supporting gene-disease validity; Changed publications: 31727138, 17573418; Changed phenotypes: [Kallikrein, decreased urinary activity of] 615953, Pulmonary arterial hypertension MONDO:0015924; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Marked gene: KLK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Classified gene: KLK1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.19 | KLK1 | Zornitza Stark Gene: klk1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | KLK1 | Zornitza Stark reviewed gene: KLK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pulmonary arterial hypertension MONDO:0015924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.143 | PRUNE1 | Zornitza Stark Marked gene: PRUNE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.143 | PRUNE1 | Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.143 | PRUNE1 | Zornitza Stark Classified gene: PRUNE1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.143 | PRUNE1 | Zornitza Stark Gene: prune1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.142 | PROC | Zornitza Stark Phenotypes for gene: PROC were changed from Thrombophilia due to protein C deficiency, autosomal recessive, MIM# 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.141 | PROC | Zornitza Stark Publications for gene: PROC were set to 31700678; 20187890 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.140 | PROC | Zornitza Stark Mode of inheritance for gene: PROC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.139 | PROC | Zornitza Stark Classified gene: PROC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.139 | PROC | Zornitza Stark Gene: proc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.138 | POMGNT1 | Zornitza Stark Marked gene: POMGNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.138 | POMGNT1 | Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.138 | POMGNT1 | Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Retinitis pigmentosa 76 MIM#617123 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.137 | POMGNT1 | Zornitza Stark Classified gene: POMGNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.137 | POMGNT1 | Zornitza Stark Gene: pomgnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.205 | PDHA1 | Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.204 | PDHA1 | Zornitza Stark Publications for gene: PDHA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.203 | PDHA1 | Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.136 | POGZ | Zornitza Stark Marked gene: POGZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.136 | POGZ | Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.136 | POGZ | Zornitza Stark Classified gene: POGZ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.136 | POGZ | Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.203 | NTRK1 | Zornitza Stark Marked gene: NTRK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.203 | NTRK1 | Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.203 | NTRK1 | Zornitza Stark Phenotypes for gene: NTRK1 were changed from HSAN/SFN; Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis to hereditary sensory and autonomic neuropathy type 4 MONDO:0009746 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.202 | NTRK1 | Zornitza Stark Publications for gene: NTRK1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.135 | PNPLA6 | Zornitza Stark Marked gene: PNPLA6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.135 | PNPLA6 | Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.135 | PNPLA6 | Zornitza Stark Phenotypes for gene: PNPLA6 were changed from Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 to Spastic paraplegia 39 MIM#612020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.134 | PNPLA6 | Zornitza Stark Classified gene: PNPLA6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.134 | PNPLA6 | Zornitza Stark Gene: pnpla6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 | TBX6 | Zornitza Stark Marked gene: TBX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 | TBX6 | Zornitza Stark Gene: tbx6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.133 | TBX6 | Zornitza Stark Phenotypes for gene: TBX6 were changed from Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome to Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related; Combined skeletal-kidney dysplasia syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1042 | TBX6 | Zornitza Stark Phenotypes for gene: TBX6 were changed from Spondylocostal dysostosis 5, 122600 to Spondylocostal dysostosis 5, 122600; Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1041 | WBP4 | Zornitza Stark Marked gene: WBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1041 | WBP4 | Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1041 | WBP4 | Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder, MONDO:0700092, WBP4-related to Neurodevelopmental disorder, MONDO:0700092, WBP4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5303 | WBP4 | Zornitza Stark Marked gene: WBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5303 | WBP4 | Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5303 | WBP4 | Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1040 | WBP4 | Zornitza Stark Marked gene: WBP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1040 | WBP4 | Zornitza Stark Gene: wbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1040 | WBP4 | Zornitza Stark Phenotypes for gene: WBP4 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, WBP4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5302 | KDM2A | Zornitza Stark Marked gene: KDM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5302 | KDM2A | Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5302 | KDM2A | Zornitza Stark Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1039 | KDM2A | Zornitza Stark Marked gene: KDM2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1039 | KDM2A | Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1039 | KDM2A | Zornitza Stark Phenotypes for gene: KDM2A were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5301 | PIP5K1C | Zornitza Stark Marked gene: PIP5K1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5301 | PIP5K1C | Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5301 | PIP5K1C | Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Marked gene: PIP5K1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1038 | PIP5K1C | Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Lethal congenital contractural syndrome 3, MIM# 611369 to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related; Lethal congenital contractural syndrome 3, MIM# 611369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1037 | PIP5K1C | Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1036 | PIP5K1C | Zornitza Stark Mode of inheritance for gene: PIP5K1C was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.128 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.128 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.128 | INTS13 | Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.239 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.239 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.239 | INTS13 | Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5300 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5300 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5300 | INTS13 | Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.44 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.44 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.44 | INTS13 | Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1035 | INTS13 | Zornitza Stark Marked gene: INTS13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1035 | INTS13 | Zornitza Stark Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1035 | INTS13 | Zornitza Stark Phenotypes for gene: INTS13 were changed from Oral-facial-digital syndrome to Oral-facial-digital syndrome, MONDO:0015375, INTS13-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2177 | PLG | Zornitza Stark Mode of inheritance for gene: PLG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | KLK1 |
Sangavi Sivagnanasundram gene: KLK1 was added gene: KLK1 was added to Pulmonary Arterial Hypertension. Sources: Other Mode of inheritance for gene: KLK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLK1 were set to 31727138; 17573418 Phenotypes for gene: KLK1 were set to Pulmonary arterial hypertension MONDO:0015924 Review for gene: KLK1 was set to AMBER Added comment: PMID: 31727138 screening of the biobank - 12 individuals with genetic variant in KLK1 relevant to PAH (not all were found to be hereditary). Assay showed that carriers of variants in KLK1 are less clinically severe compared to those who carry variants in BMPR2. PMID: 17573418 Functional study using sensitive and specific type ELISAs to assay multiple panels of human tissue. KLK1 tissue was abundantly expressed in the pancreas and salivary gland and moderately expressed in the lungs. Reviewed by ClinGen Pulmonary Hypertension GCEP on 30/8/2022 with limited evidence supporting gene-disease validation Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5299 | TEFM | Zornitza Stark Marked gene: TEFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5299 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5299 | TEFM | Zornitza Stark Classified gene: TEFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5299 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5298 | TEFM |
Zornitza Stark gene: TEFM was added gene: TEFM was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451 Review for gene: TEFM was set to GREEN Added comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis. Sources: Literature |
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| Genetic Epilepsy v0.1873 | TEFM | Zornitza Stark Marked gene: TEFM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1873 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1873 | TEFM | Zornitza Stark Classified gene: TEFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1873 | TEFM | Zornitza Stark Gene: tefm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1872 | TEFM |
Zornitza Stark gene: TEFM was added gene: TEFM was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TEFM were set to 36823193 Phenotypes for gene: TEFM were set to Combined oxidative phosphorylation deficiency 58, MIM# 620451 Review for gene: TEFM was set to GREEN Added comment: Seven individuals from 5 families reported. Presentation predominantly with encephalopathy, seizures and ID, in addition to lactic acidosis. Sources: Literature |
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| Mitochondrial disease v0.879 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.878 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.878 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1034 | TEFM | Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.41 | MAP3K14 | Zornitza Stark Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1033 | MAP3K14 | Zornitza Stark Phenotypes for gene: MAP3K14 were changed from NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels to Immunodeficiency 112, MIM# 620449; NIK deficiency; Poor T cell proliferation to antigen; Low B-cell numbers; Low NK number and function; recurrent bacterial/viral/ cryptosporidium infections; hypogammaglobulinaemia; decreased immunoglobulin levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1032 | MAP3K14 | Zornitza Stark edited their review of gene: MAP3K14: Changed phenotypes: Immunodeficiency 112, MIM# 620449, NIK deficiency, Poor T cell proliferation to antigen, Low B-cell numbers, Low NK number and function, recurrent bacterial/viral/ cryptosporidium infections, hypogammaglobulinaemia, decreased immunoglobulin levels | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.127 | SLC20A1 | Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1032 | SLC20A1 | Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.280 | SLC20A1 | Zornitza Stark Marked gene: SLC20A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.280 | SLC20A1 | Zornitza Stark Gene: slc20a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.280 | SLC20A1 | Zornitza Stark Phenotypes for gene: SLC20A1 were changed from Bladder-Exstrophy-Epispadias Complex (BEEC) to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.205 | TUBB4B | Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early-onset deafness MIM#617879 to Leber congenital amaurosis with early-onset deafness MIM#617879; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Marked gene: TUBB4B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.34 | TUBB4B | Zornitza Stark Phenotypes for gene: TUBB4B were changed from Primary ciliary dyskinesia to Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1031 | TUBB4B | Zornitza Stark Phenotypes for gene: TUBB4B were changed from Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650 to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650; Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1030 | CYHR1 | Zornitza Stark Marked gene: CYHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1030 | CYHR1 | Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1030 | CYHR1 | Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.219 | CYHR1 | Zornitza Stark Marked gene: CYHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.219 | CYHR1 | Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.219 | CYHR1 | Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5297 | CYHR1 | Zornitza Stark Marked gene: CYHR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5297 | CYHR1 | Zornitza Stark Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5297 | CYHR1 | Zornitza Stark Phenotypes for gene: CYHR1 were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, CYHR1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2176 | ABCD4 | Zornitza Stark Tag metabolic tag was added to gene: ABCD4. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.226 | TSPOAP1 | Zornitza Stark Marked gene: TSPOAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.226 | TSPOAP1 | Zornitza Stark Gene: tspoap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.226 | TSPOAP1 | Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from dystonia; intellectual disability; cerebellar atrophy to Dystonia 22, MIM# 620453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.225 | TSPOAP1 | Zornitza Stark Classified gene: TSPOAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.225 | TSPOAP1 | Zornitza Stark Gene: tspoap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.224 | TSPOAP1 | Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5296 | TSPOAP1 | Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5295 | TSPOAP1 | Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1029 | TSPOAP1 | Zornitza Stark Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1028 | TSPOAP1 | Zornitza Stark reviewed gene: TSPOAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia 22, MIM# 620453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5295 | TAF4 | Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5294 | TAF4 | Zornitza Stark edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1028 | TAF4 | Zornitza Stark Phenotypes for gene: TAF4 were changed from Neurodevelopmental disorder, MONDO:0700092, TAF4-related to Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1027 | TAF4 | Zornitza Stark edited their review of gene: TAF4: Changed phenotypes: Intellectual developmental disorder, autosomal dominant 73, MIM# 620450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.530 | NAA60 | Zornitza Stark Marked gene: NAA60 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.530 | NAA60 | Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.530 | NAA60 | Zornitza Stark Classified gene: NAA60 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.530 | NAA60 | Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.529 | NAA60 |
Zornitza Stark gene: NAA60 was added gene: NAA60 was added to Regression. Sources: Other Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAA60 were set to Basal ganglia calcification, MONDO:0008947, NAA60-related Review for gene: NAA60 was set to GREEN Added comment: ESHG 2023: 10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift). All with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations). NAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). Sources: Other |
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| Mendeliome v1.1027 | NAA60 | Zornitza Stark Marked gene: NAA60 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1027 | NAA60 | Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1027 | NAA60 | Zornitza Stark Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.94 | NAA60 | Zornitza Stark Marked gene: NAA60 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.94 | NAA60 | Zornitza Stark Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.94 | NAA60 | Zornitza Stark Phenotypes for gene: NAA60 were changed from Basal ganglia calcification to Basal ganglia calcification, MONDO:0008947, NAA60-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1026 | POPDC2 | Zornitza Stark Marked gene: POPDC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1026 | POPDC2 | Zornitza Stark Gene: popdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1026 | POPDC2 | Zornitza Stark Phenotypes for gene: POPDC2 were changed from Sinus node dysfunction to Sinoatrial node disorder, MONDO:0000469, POPDC2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.204 | GPATCH11 | Zornitza Stark Marked gene: GPATCH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.204 | GPATCH11 | Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.204 | GPATCH11 | Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5294 | GPATCH11 | Zornitza Stark Marked gene: GPATCH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5294 | GPATCH11 | Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5294 | GPATCH11 | Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5293 | GPATCH11 | Zornitza Stark Classified gene: GPATCH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5293 | GPATCH11 | Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1025 | GPATCH11 | Zornitza Stark Marked gene: GPATCH11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1025 | GPATCH11 | Zornitza Stark Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1025 | GPATCH11 | Zornitza Stark Phenotypes for gene: GPATCH11 were changed from Leber congenital amaurosis and developmental delay to Neurodevelopmental disorder, MONDO:0700092, GPATCH11-related; Leber congenital amaurosis and developmental delay | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5292 | KCNA3 | Zornitza Stark Marked gene: KCNA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5292 | KCNA3 | Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5292 | KCNA3 | Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1871 | KCNA3 | Zornitza Stark Marked gene: KCNA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1871 | KCNA3 | Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1871 | KCNA3 | Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder with epilepsy to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1024 | KCNA3 | Zornitza Stark Marked gene: KCNA3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1024 | KCNA3 | Zornitza Stark Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1024 | KCNA3 | Zornitza Stark Phenotypes for gene: KCNA3 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, KCNA3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Marked gene: FSD1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1023 | FSD1L | Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5291 | FSD1L | Zornitza Stark Marked gene: FSD1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5291 | FSD1L | Zornitza Stark Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5291 | FSD1L | Zornitza Stark Phenotypes for gene: FSD1L were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, FSD1L-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1022 | DENND5B | Zornitza Stark Marked gene: DENND5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1022 | DENND5B | Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1022 | DENND5B | Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5290 | DENND5B | Zornitza Stark Marked gene: DENND5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5290 | DENND5B | Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5290 | DENND5B | Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.293 | DENND5B | Zornitza Stark Marked gene: DENND5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.293 | DENND5B | Zornitza Stark Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.293 | DENND5B | Zornitza Stark Phenotypes for gene: DENND5B were changed from Neurodevelopmental disorder with white matter anomalies to Neurodevelopmental disorder with white matter anomalies, MONDO:0700092, DENND5B-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5289 | DMAP1 | Zornitza Stark Marked gene: DMAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5289 | DMAP1 | Zornitza Stark Gene: dmap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5289 | DMAP1 | Zornitza Stark Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1021 | DMAP1 | Zornitza Stark Marked gene: DMAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1021 | DMAP1 | Zornitza Stark Gene: dmap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1021 | DMAP1 | Zornitza Stark Phenotypes for gene: DMAP1 were changed from Neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DMAP1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1020 | VGLL2 | Zornitza Stark Marked gene: VGLL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1020 | VGLL2 | Zornitza Stark Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1020 | VGLL2 | Zornitza Stark Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Marked gene: VGLL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.8 | VGLL2 | Zornitza Stark Phenotypes for gene: VGLL2 were changed from Syngnathia to Syngnathia, MONDO:0015409, VGLL2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Zornitza Stark Marked gene: ZIC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Zornitza Stark Gene: zic1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2176 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2176 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2175 | COL4A6 |
Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813; Family A: - Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6 - hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this. Family B: - Variant does not segregate within family with the proband being WT in this gene - NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly. In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed rating: RED; Changed publications: 33840813; Changed phenotypes: Deafness, X-linked 6 MIM#300914; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Deafness_IsolatedAndComplex v1.158 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.158 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.157 | COL4A6 | Zornitza Stark edited their review of gene: COL4A6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.157 | COL4A6 |
Zornitza Stark edited their review of gene: COL4A6: Added comment: Further review of PMID:33840813 Family A: - Proband is hemi for COL4A6 and het for GJB2. Mother is het for COL4A6 - hypothesised that in the proband is more severe than the parents due to additive effects of his two variants however, mother's audiometric data was unavailable to confirm this. Family B: - Variant does not segregate within family with the proband being WT in this gene - NM_001287758.1: c.3272G>C is the mutation however, it appears to be an annotation error as it corresponds to NC_000023.11:g.108171443 in GRCh38. At that position, the c. is T not G and the amino acid residue is Val, not Gly. In addition, there is a missense affecting Gly of GXY in gnomad v3 with 38 hemis.; Changed publications: 23714752, 33840813 |
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| Mendeliome v1.1019 | COL4A6 | Zornitza Stark Publications for gene: COL4A6 were set to 23714752; 12784310 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1018 | COL4A6 | Zornitza Stark Classified gene: COL4A6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1018 | COL4A6 | Zornitza Stark Gene: col4a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1017 | HCN2 | Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders; Neurodevelopmental disorder (MONDO#0700092), HCN2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1016 | HCN2 | Zornitza Stark edited their review of gene: HCN2: Added comment: ICG congress 2023: cohort presented with ID as key feature.; Changed phenotypes: Febrile seizures, familial, 2, MIM# 602477, Genetic epilepsy with febrile seizures plus, Other seizure disorders, Neurodevelopmental disorder (MONDO#0700092), HCN2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5288 | HCN2 | Zornitza Stark Marked gene: HCN2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5288 | HCN2 | Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5288 | HCN2 | Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5287 | HCN2 | Zornitza Stark Classified gene: HCN2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5287 | HCN2 | Zornitza Stark Gene: hcn2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1016 | SLC4A3 | Zornitza Stark Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1015 | SLC4A3 | Zornitza Stark Classified gene: SLC4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1015 | SLC4A3 | Zornitza Stark Gene: slc4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | SLC4A3 | Zornitza Stark Publications for gene: SLC4A3 were set to PMID: 29167417; 34557911 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | SLC4A3 | Zornitza Stark Classified gene: SLC4A3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.6 | SLC4A3 | Zornitza Stark Gene: slc4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.103 | SOCS1 | Zornitza Stark Marked gene: SOCS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.103 | SOCS1 | Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.103 | SOCS1 | Zornitza Stark Phenotypes for gene: SOCS1 were changed from Enteropathy to Autoinflammatory syndrome, familial, with or without immunodeficiency, MIM# 619375; Enteropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.102 | SOCS1 | Zornitza Stark Classified gene: SOCS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.102 | SOCS1 | Zornitza Stark Gene: socs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Marked gene: PLCG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1014 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1013 | PLCG1 |
Zornitza Stark gene: PLCG1 was added gene: PLCG1 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to 37422272 Phenotypes for gene: PLCG1 were set to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation Mode of pathogenicity for gene: PLCG1 was set to Other Review for gene: PLCG1 was set to AMBER Added comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease Sources: Expert Review |
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| Disorders of immune dysregulation v0.178 | PLCG1 | Zornitza Stark Marked gene: PLCG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.178 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.178 | PLCG1 | Zornitza Stark Phenotypes for gene: PLCG1 were changed from Immune dysregulation to Autoinflammatory syndrome, MONDO:0019751, PLCG1-related; Immune dysregulation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.177 | PLCG1 | Zornitza Stark Classified gene: PLCG1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.177 | PLCG1 | Zornitza Stark Gene: plcg1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PRUNE1 |
Luisa Weiss gene: PRUNE1 was added gene: PRUNE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRUNE1 were set to 33528536; 35379233 Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies MIM#617481 Review for gene: PRUNE1 was set to GREEN Added comment: Case report of one consanguineous Iranian family with two children affected with spastic quadriplegic CP and a homozygous start loss of PRUNE1. The children also showed hypotonia and cerebellar atrophy. In addition, two additional cases in one large CP cohort study, one with homozygous mutation the other with compound heterozygous mutation/deletion. Sources: Literature |
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| Cerebral Palsy v1.133 | PROC | Luisa Weiss reviewed gene: PROC: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700678, 20187890, 34531397; Phenotypes: Thrombophilia 3 due to protein C deficiency MIM#176860, Thrombophilia 3 due to protein C deficiency MIM#612304; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.9 | TTI1 | Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.8 | TTI1 | Zornitza Stark Publications for gene: TTI1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.7 | TTI1 | Zornitza Stark reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5286 | TTI1 | Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5285 | TTI1 | Zornitza Stark Publications for gene: TTI1 were set to 26539891; 30315573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.218 | TTI1 | Zornitza Stark Publications for gene: TTI1 were set to DOI:https://doi.org/10.1016/j.ajhg.2023.01.006 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.217 | TTI1 | Zornitza Stark reviewed gene: TTI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36724785; Phenotypes: Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.217 | TTI1 | Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.217 | TTI1 | Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1012 | TTI1 | Zornitza Stark Phenotypes for gene: TTI1 were changed from Neurodevelopmental disorder, MONDO:0700092, TTI1-related to Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.126 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.126 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.126 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.67 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.67 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.67 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5284 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5284 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5284 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1011 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1011 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1011 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.43 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.216 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.216 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.216 | DCAF15 | Zornitza Stark Phenotypes for gene: DCAF15 were changed from Cornelia de Lange syndrome to Cornelia de Lange syndrome, MONDO:0016033, DCAF15-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.215 | DCAF15 | Zornitza Stark Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.215 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.42 | DCAF15 | Zornitza Stark Marked gene: DCAF15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.42 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.42 | DCAF15 | Zornitza Stark Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrichosis syndromes v0.42 | DCAF15 | Zornitza Stark Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | POMGNT1 |
Luisa Weiss gene: POMGNT1 was added gene: POMGNT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT1 were set to 33528536; 17881266; 34077496 Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 MIM# 253280; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 3 MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157; Retinitis pigmentosa 76 MIM#617123 Review for gene: POMGNT1 was set to GREEN Added comment: One case report of two brothers diagnosed with CP and later found to have POMGnt1 biallelic mutations. In addition, two additional cases in two large CP cohort studies presenting with biallelic POMGnT1 mutations. Sources: Literature |
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| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Classified gene: PTCH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.279 | PTCH1 | Zornitza Stark Gene: ptch1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.201 | PDHA1 | Sangavi Sivagnanasundram reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | POGZ |
Luisa Weiss gene: POGZ was added gene: POGZ was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 33528536 Phenotypes for gene: POGZ were set to White-Sutton syndrome MIM#616364 Review for gene: POGZ was set to AMBER Added comment: 2 cases in one large cohort study, one with a likely pathogenic mutation and one with a pathogenic mutation. Sources: Literature |
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| Hereditary Neuropathy v0.201 | NTRK1 | Sangavi Sivagnanasundram reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301726, 11310631; Phenotypes: hereditary sensory and autonomic neuropathy type 4 MONDO:0009746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PNPLA6 |
Luisa Weiss changed review comment from: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with childhood onset of sometimes very slowly progressive motor disease Sources: Literature; to: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with HSP 39: childhood onset of potentially very slowly progressive motor disease Sources: Literature |
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| Cerebral Palsy v1.133 | PNPLA6 |
Luisa Weiss gene: PNPLA6 was added gene: PNPLA6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPLA6 were set to 34816117; 34364746 Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome MIM#215470; Oliver-McFarlane syndrome MIM#275400; Spastic paraplegia 39 MIM#612020 Review for gene: PNPLA6 was set to AMBER Added comment: 2 case reports of patients initially reported as having CP but later re-diagnosed as having spastic paraplegia Type 39 due to biallelic PNPLA6 mutations. Significant phenotypic overlap with childhood onset of sometimes very slowly progressive motor disease Sources: Literature |
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| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.132 | TBX6 | Chirag Patel Classified gene: TBX6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.132 | TBX6 | Chirag Patel Gene: tbx6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.131 | TBX6 |
Chirag Patel gene: TBX6 was added gene: TBX6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: TBX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBX6 were set to PMID: 36112137, 36161696 Phenotypes for gene: TBX6 were set to Mayer-Rokitansky-Küster-Hauser syndrome; Combined skeletal-kidney dysplasia syndrome Review for gene: TBX6 was set to GREEN gene: TBX6 was marked as current diagnostic Added comment: TBX6 encodes transcription-factor box 6, a transcription factor critical to paraxial mesoderm segmentation and somitogenesis during embryonic development. TBX6 haploinsufficiency is believed to drive the skeletal and kidney phenotypes associated with the 16p11.2 deletion syndrome. Ma et al (2022) reported 16 rare variants in TBX6 from Mayer-Rokitansky-Küster-Hauser syndrome cohort (1 truncating, 15 VUS). They observed a significant mutational burden of TBX6 in affected individuals vs controls. Of the 15 variants with uncertain effects, 7 were shown to induce a loss-of-function effect through various mechanisms (i.e. impaired normal splicing of TBX6 messenger RNA, decreased protein expression, perturbed transcriptional activity, and protein mislocalization). There was observed incomplete penetrance and variable expressivity in families carrying deleterious variants. Li et al (2022) reported 7 individuals with vertebral and rib malformations and structural kidney differences associated with heterozygous TBX6 gene deletion in trans with a hypomorphic TBX6 allele or biallelic TBX6 variants. Sources: Literature |
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| Mendeliome v1.1010 | TBX6 | Chirag Patel reviewed gene: TBX6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36112137, 36161696; Phenotypes: Mayer-Rokitansky-Küster-Hauser syndrome, Combined skeletal-kidney dysplasia syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5283 | WBP4 | Chirag Patel Classified gene: WBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5283 | WBP4 | Chirag Patel Gene: wbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1010 | WBP4 | Chirag Patel Classified gene: WBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1010 | WBP4 | Chirag Patel Gene: wbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5282 | WBP4 |
Chirag Patel gene: WBP4 was added gene: WBP4 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder Review for gene: WBP4 was set to GREEN gene: WBP4 was marked as current diagnostic Added comment: ESHG 2023: 11 individuals from 8 families with homozygous LOF variants in WBP4 gene (4 different variants). Presentation of severe DD and ID, hypotonia, abnormal outer ears, and varying congenital anomalies. WBP4 is spliceosome protein which binds/interacts with SNRNP200. In vivo and in vitro studies previously showed WBP4 enhances splicing and regulates alternative splicing. Patient fibroblasts showed loss of expression of WBP4. RNA sequencing analysis showed abnormal splicing patterns. Proposed spliceosomopathy. Sources: Other |
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| Mendeliome v1.1009 | WBP4 |
Chirag Patel gene: WBP4 was added gene: WBP4 was added to Mendeliome. Sources: Other Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WBP4 were set to Neurodevelopmental disorder Review for gene: WBP4 was set to GREEN gene: WBP4 was marked as current diagnostic Added comment: ESHG 2023: 11 individuals from 8 families with homozygous LOF variants in WBP4 gene (4 different variants). Presentation of severe DD and ID, hypotonia, abnormal outer ears, and varying congenital anomalies. WBP4 is spliceosome protein which binds/interacts with SNRNP200. In vivo and in vitro studies previously showed WBP4 enhances splicing and regulates alternative splicing. Patient fibroblasts showed loss of expression of WBP4. RNA sequencing analysis showed abnormal splicing patterns. Proposed spliceosomopathy. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5281 | KDM2A | Chirag Patel Classified gene: KDM2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5281 | KDM2A | Chirag Patel Gene: kdm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1008 | KDM2A | Chirag Patel Classified gene: KDM2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1008 | KDM2A | Chirag Patel Gene: kdm2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5280 | KDM2A |
Chirag Patel gene: KDM2A was added gene: KDM2A was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder Review for gene: KDM2A was set to GREEN gene: KDM2A was marked as current diagnostic Added comment: ESHG 2023: 14 patients with de novo HTZ variants in KDM2A (5 x truncating, 9 x missense) Presentation with DD, ID (mild), seizures, growth retardation, and dysmorphism. Functional studies: -patient blood showed aberrant genome wide methylation profile - potential episignature -HEK293T cells showed altered subcellular localisation of KDM2A -Drosophila models showed variants caused neurotoxicity Sources: Other |
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| Mendeliome v1.1007 | KDM2A |
Chirag Patel gene: KDM2A was added gene: KDM2A was added to Mendeliome. Sources: Other Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder Review for gene: KDM2A was set to GREEN gene: KDM2A was marked as current diagnostic Added comment: ESHG 2023: 14 patients with de novo HTZ variants in KDM2A (5 x truncating, 9 x missense) Presentation with DD, ID (mild), seizures, growth retardation, and dysmorphism. Functional studies: -patient blood showed aberrant genome wide methylation profile - potential episignature -HEK293T cells showed altered subcellular localisation of KDM2A -Drosophila models showed variants caused neurotoxicity Sources: Other |
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| Microcephaly v1.214 | PIP5K1C | Chirag Patel Classified gene: PIP5K1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.214 | PIP5K1C | Chirag Patel Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5279 | PIP5K1C | Chirag Patel Classified gene: PIP5K1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5279 | PIP5K1C | Chirag Patel Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.213 | PIP5K1C |
Chirag Patel gene: PIP5K1C was added gene: PIP5K1C was added to Microcephaly. Sources: Other Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly Review for gene: PIP5K1C was set to GREEN gene: PIP5K1C was marked as current diagnostic Added comment: ESHG 2023: 9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants). Presentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism. PIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5278 | PIP5K1C |
Chirag Patel gene: PIP5K1C was added gene: PIP5K1C was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly Review for gene: PIP5K1C was set to GREEN gene: PIP5K1C was marked as current diagnostic Added comment: ESHG 2023: 9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants). Presentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism. PIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. Sources: Other |
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| Mendeliome v1.1006 | PIP5K1C | Chirag Patel Classified gene: PIP5K1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1006 | PIP5K1C | Chirag Patel Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1005 | PIP5K1C | Chirag Patel reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder and microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5277 | NSUN6 | Chirag Patel changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1005 | NSUN6 | Chirag Patel changed review comment from: Sufficient evidence for upgrade; to: Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5277 | NSUN6 | Chirag Patel Classified gene: NSUN6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5277 | NSUN6 | Chirag Patel Gene: nsun6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1005 | NSUN6 | Chirag Patel Classified gene: NSUN6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1005 | NSUN6 | Chirag Patel Gene: nsun6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1004 | NSUN6 | Chirag Patel reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5276 | NSUN6 | Chirag Patel reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5276 | INTS13 | Chirag Patel Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5276 | INTS13 | Chirag Patel Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.43 | INTS13 | Chirag Patel Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.43 | INTS13 | Chirag Patel Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.238 | INTS13 | Chirag Patel Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.238 | INTS13 | Chirag Patel Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.125 | INTS13 | Chirag Patel Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.125 | INTS13 | Chirag Patel Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1004 | INTS13 | Chirag Patel Classified gene: INTS13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1004 | INTS13 | Chirag Patel Gene: ints13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliopathies v1.42 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Ciliopathies. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5275 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
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| Fetal anomalies v1.124 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
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| Clefting disorders v0.237 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
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| Mendeliome v1.1003 | INTS13 |
Chirag Patel gene: INTS13 was added gene: INTS13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS13 were set to PMID: 36229431 Phenotypes for gene: INTS13 were set to Oral-facial-digital syndrome Review for gene: INTS13 was set to GREEN gene: INTS13 was marked as current diagnostic Added comment: 2 families with 4 affected individuals with Oral-facial-digital (OFD) phenotype. Homozygosity mapping and WES found 2 homozygous variants in INTS13 gene. This is a subunit of the Integrator complex, which associates with RNA Polymerase II and cleaves nascent RNA to modulate gene expression. Variants segregated with disease. Depletion of INTS13 disrupts ciliogenesis in human cultured cells and causes dysregulation of a broad collection of ciliary genes. Knockdown in Xenopus embryos leads to motile cilia anomalies. Sources: Literature |
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| Differences of Sex Development v0.278 | SLC20A1 | Chirag Patel Classified gene: SLC20A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.278 | SLC20A1 | Chirag Patel Gene: slc20a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.277 | SLC20A1 |
Chirag Patel gene: SLC20A1 was added gene: SLC20A1 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to PMID: 32850778, 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN gene: SLC20A1 was marked as current diagnostic Added comment: Three individuals with BEEC and animal model supporting role of this gene in urinary tract and urorectal development. Sources: Literature |
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| Ciliary Dyskinesia v1.33 | TUBB4B | Chirag Patel Classified gene: TUBB4B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.33 | TUBB4B | Chirag Patel Gene: tubb4b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.203 | TUBB4B | Chirag Patel reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.157 | TUBB4B | Chirag Patel reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.32 | TUBB4B |
Chirag Patel gene: TUBB4B was added gene: TUBB4B was added to Ciliary Dyskinesia. Sources: Other Mode of inheritance for gene: TUBB4B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TUBB4B were set to Primary ciliary dyskinesia Review for gene: TUBB4B was set to GREEN Added comment: ESHG 2023: De novo heterozygous TUBB4B variants found in: -8 patients with recurrent respiratory infections (PCD phenotype), irregular corpus callosum, and dilated ventricles (suggesting motile cilia anomaly) -3 patients with retinal dystrophy, SNHL, and PCD respiratory issues Functional studies: -variants showed decreased cilia number and length, and mislocalisation of dyenin motors -mouse models had decreased cilia number and length in trachea, and reduction in cilia in choroid plexus cells leading to hydrocephaly Sources: Other |
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| Mendeliome v1.1002 | TUBB4B | Chirag Patel reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.276 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Differences of Sex Development. Sources: Other Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC) Review for gene: PTCH1 was set to AMBER Added comment: ESHG 2023: 9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome. Zebrafish models: a) knock out and knock in (1 missense variant) models showed no phenotype b) co-injection of WT and missense variant led to altered cloaca on D5. Proposed mechanism is dominant negative effect. Sources: Other |
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| Differences of Sex Development v0.276 | PTCH1 |
Chirag Patel gene: PTCH1 was added gene: PTCH1 was added to Differences of Sex Development. Sources: Other Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTCH1 were set to Bladder exstrophy and epispadias complex (BEEC) Review for gene: PTCH1 was set to AMBER Added comment: ESHG 2023: 9 individuals with BEEC (WES/Sanger) with 9 x rare HTZ variants in PTCH1 (2 de novo, 7 inherited unaffected parent). No clinical features of Gorlin syndrome and variants not seen in Gorlin syndrome. Zebrafish models: a) knock out and knock in (1 missense variant) models showed no phenotype b) co-injection of WT and missense variant led to altered cloaca on D5. Proposed mechanism is dominant negative effect. Sources: Other |
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| Mendeliome v1.1002 | PTCH1 | Chirag Patel reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.123 | PTCH1 | Chirag Patel reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bladder exstrophy and epispadias complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5274 | DCAF15 | Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5274 | DCAF15 | Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5274 | DCAF15 | Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5274 | DCAF15 | Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.212 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Microcephaly. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Hypertrichosis syndromes v0.41 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Hypertrichosis syndromes v0.41 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Hypertrichosis syndromes. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Mendeliome v1.1002 | DCAF15 | Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1002 | DCAF15 | Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.212 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Microcephaly. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Fetal anomalies v1.123 | DCAF15 | Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.123 | DCAF15 | Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.66 | DCAF15 | Chirag Patel Classified gene: DCAF15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.66 | DCAF15 | Chirag Patel Gene: dcaf15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5273 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Mendeliome v1.1001 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Mendeliome. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Growth failure v1.65 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Growth failure. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Fetal anomalies v1.122 | DCAF15 |
Chirag Patel gene: DCAF15 was added gene: DCAF15 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: DCAF15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCAF15 were set to Cornelia de Lange syndrome Review for gene: DCAF15 was set to AMBER Added comment: ESHG 2023: 3 unrelated cases with CdLS (1 x TOP with MCA, 1 x death @20mths, 1 x living child) Features suggestive of CdLS - DD, microcephaly, CHD, dysmorphism, visual/hearing impairment. WES identified recurrent de novo variant (p.Ser470Phe) in DCAF15 gene. This mediates ubiquitination and degradation of target proteins, and interacts with cohesin complex members (SMC1/SMC3). Protein analysis from individuals showed increased accumulation of ubiquitination-modified proteins and SM3 (GOF mechanism). EpiSign analysis showed same DNA methylation pattern as other CdLS cases/genes. Zebrafish model showed reduced body length, reduced head size, reduced oligodendrocytes, heart defect, aberrant motor neurons, and abnormal response to visual/auditory stimuli. Sources: Other |
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| Hereditary Neuropathy v0.201 | MFF | Zornitza Stark Marked gene: MFF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.201 | MFF | Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.201 | MFF | Zornitza Stark Phenotypes for gene: MFF were changed from Leigh-like syndrome, developmental delay, optic atrophy, seizures, sensory-motor neuropathy with SNCV, Leigh syndrome-like MRI brain (T2 high signal of basal ganglia and subthalamic nucleus) to Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.200 | MFF | Zornitza Stark Publications for gene: MFF were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.199 | MFF | Zornitza Stark Classified gene: MFF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.199 | MFF | Zornitza Stark Gene: mff has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.198 | LYST | Zornitza Stark Marked gene: LYST as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.198 | LYST | Zornitza Stark Gene: lyst has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.198 | LYST | Zornitza Stark Phenotypes for gene: LYST were changed from Partial albinism, immunodeficiency, cerebellar atrophy, sensory-motor axonal neuropathy; Chediak-Higashi syndrome, 214500 to Chediak-Higashi syndrome MIM#214500; MONDO:0008963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.197 | LYST | Zornitza Stark Publications for gene: LYST were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.196 | KARS | Zornitza Stark Marked gene: KARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.196 | KARS | Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.196 | KARS | Zornitza Stark Phenotypes for gene: KARS were changed from HMSN; Charcot Marie Tooth disease, recessive intermediate, B, 613641; Deafness, autosomal recessive 89, 613916 to Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641; MONDO:0013338) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.195 | KARS | Zornitza Stark Publications for gene: KARS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.194 | KARS | Zornitza Stark Classified gene: KARS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.194 | KARS | Zornitza Stark Gene: kars has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.193 | HMBS | Zornitza Stark Marked gene: HMBS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.193 | HMBS | Zornitza Stark Gene: hmbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.193 | HMBS | Zornitza Stark Phenotypes for gene: HMBS were changed from Acute intermittent porphyria; dHMN/dSMA to Porphyria, acute intermittent MIM#176000; MONDO:0008294 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.192 | HMBS | Zornitza Stark Publications for gene: HMBS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.191 | HMBS | Zornitza Stark reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31205461; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.191 | HADHB | Zornitza Stark Marked gene: HADHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.191 | HADHB | Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.191 | HADHB | Zornitza Stark Phenotypes for gene: HADHB were changed from Trifunctional protein deficiency, 609015; HMSN to Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.190 | HADHB | Zornitza Stark Publications for gene: HADHB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.189 | HADHB | Zornitza Stark reviewed gene: HADHB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37388542; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.189 | HADHB | Zornitza Stark Classified gene: HADHB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.189 | HADHB | Zornitza Stark Gene: hadhb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.188 | HADHA | Zornitza Stark Marked gene: HADHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.188 | HADHA | Zornitza Stark Gene: hadha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.188 | HADHA | Zornitza Stark Phenotypes for gene: HADHA were changed from Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency to LCHAD deficiency MIM#609016; Mitochondrial trifunctional protein deficiency MIM#609015 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.187 | HADHA | Zornitza Stark Publications for gene: HADHA were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.186 | GSN | Zornitza Stark Marked gene: GSN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.186 | GSN | Zornitza Stark Gene: gsn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.186 | GSN | Zornitza Stark Phenotypes for gene: GSN were changed from Amyloidosis, Finnish type; HMSN to Amyloidosis, Finnish type MIM#105120 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.185 | GSN | Zornitza Stark Publications for gene: GSN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.184 | GSN | Zornitza Stark Mode of inheritance for gene: GSN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.183 | GBE1 | Zornitza Stark Marked gene: GBE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.183 | GBE1 | Zornitza Stark Gene: gbe1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.183 | GBE1 | Zornitza Stark Phenotypes for gene: GBE1 were changed from Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI to Polyglucosan body disease, adult form MIM#263570; Late-onset, cognitive impairment, spasticity, sensory-motor axonal neuropathy, bladder dysfunction, cerebellar and extrapyramidal signs also seen, periventricular white matter abnormalities on MRI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.182 | GBE1 | Zornitza Stark Publications for gene: GBE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.1000 | PMVK | Zornitza Stark Phenotypes for gene: PMVK were changed from Porokeratosis 1, multiple types, MIM# 175800 to Porokeratosis 1, multiple types, MIM# 175800; Autoinflammatory syndrome, MONDO:0019751, PMVK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.999 | PMVK | Zornitza Stark Publications for gene: PMVK were set to 26202976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.998 | PMVK | Zornitza Stark Mode of inheritance for gene: PMVK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.997 | PMVK |
Zornitza Stark changed review comment from: Association with auto inflammatory syndrome: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.; to: Association with auto inflammatory syndrome: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype. Amber for bi-allelic disease association. |
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| Mendeliome v1.997 | PMVK |
Zornitza Stark edited their review of gene: PMVK: Added comment: Association with auto inflammatory syndrome: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype.; Changed publications: 26202976, 37364720, 36410683; Changed phenotypes: Porokeratosis 1, multiple types, MIM# 175800, Autoinflammatory syndrome, MONDO:0019751, PMVK-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Autoinflammatory Disorders v1.6 | PMVK | Zornitza Stark Phenotypes for gene: PMVK were changed from Autoinflammation to Autoinflammatory syndrome, MONDO:0019751, PMVK-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.5 | PMVK | Zornitza Stark Classified gene: PMVK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.5 | PMVK | Zornitza Stark Gene: pmvk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.113 | TNFRSF9 | Zornitza Stark Marked gene: TNFRSF9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.113 | TNFRSF9 | Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.113 | TNFRSF9 | Zornitza Stark Phenotypes for gene: TNFRSF9 were changed from EBV associated lymphoproliferative disease to Immunodeficiency 109 with lymphoproliferation, MIM# 620282 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.112 | TNFRSF9 | Zornitza Stark Classified gene: TNFRSF9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.112 | TNFRSF9 | Zornitza Stark Gene: tnfrsf9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.997 | RIPK3 | Zornitza Stark Marked gene: RIPK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.997 | RIPK3 | Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.997 | RIPK3 | Zornitza Stark Classified gene: RIPK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.997 | RIPK3 | Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.996 | RIPK3 |
Zornitza Stark gene: RIPK3 was added gene: RIPK3 was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK3 were set to 37083451 Phenotypes for gene: RIPK3 were set to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis Review for gene: RIPK3 was set to AMBER Added comment: Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2). Extensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons. Sources: Expert Review |
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| Susceptibility to Viral Infections v0.111 | RIPK3 | Zornitza Stark Marked gene: RIPK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.111 | RIPK3 | Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.111 | RIPK3 | Zornitza Stark Phenotypes for gene: RIPK3 were changed from Recurrent HSV encephalitis to Hereditary susceptibility to infections, MONDO:0015979, RIPK3-related; Recurrent HSV encephalitis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.110 | RIPK3 | Zornitza Stark Classified gene: RIPK3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.110 | RIPK3 | Zornitza Stark Gene: ripk3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.995 | SMAD1 | Zornitza Stark Tag disputed tag was added to gene: SMAD1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.181 | GBA2 | Zornitza Stark Marked gene: GBA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.181 | GBA2 | Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.181 | GBA2 | Zornitza Stark Publications for gene: GBA2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.180 | EXOSC3 | Zornitza Stark Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.180 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.180 | EXOSC3 | Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.180 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.179 | ERCC8 | Zornitza Stark Marked gene: ERCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.179 | ERCC8 | Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.179 | ERCC8 | Zornitza Stark Phenotypes for gene: ERCC8 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type A MIM#216400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.178 | ERCC8 | Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1870 | SART3 | Zornitza Stark Classified gene: SART3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1870 | SART3 | Zornitza Stark Gene: sart3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.121 | ERI1 | Zornitza Stark Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.121 | ERI1 | Zornitza Stark Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.121 | ERI1 | Zornitza Stark Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.121 | ERI1 | Zornitza Stark Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.120 | ERI1 |
Zornitza Stark gene: ERI1 was added gene: ERI1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ERI1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510) Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Skeletal dysplasia v0.241 | Zornitza Stark removed gene:DRG1 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.995 | ANO1 | Zornitza Stark Phenotypes for gene: ANO1 were changed from Intestinal dysmotility syndrome, MIM# 620045; Impaired intestinal peristalsis; haemorrhagic diarrhoea; dysmorphic features to Intestinal dysmotility syndrome, MIM# 620045; Moyamoya disease, MONDO:0016820, ANO1 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.994 | ANO1 | Zornitza Stark Publications for gene: ANO1 were set to 32487539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.993 | ANO1 | Zornitza Stark Mode of inheritance for gene: ANO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.992 | ANO1 | Zornitza Stark edited their review of gene: ANO1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.992 | ANO1 | Zornitza Stark edited their review of gene: ANO1: Added comment: PMID 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 individuals with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Amber rating due to somewhat conflicting segregation and functional data presented.; Changed publications: 37253099; Changed phenotypes: Intestinal dysmotility syndrome, MIM# 620045, Moyamoya disease, MONDO:0016820, ANO1 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.178 | ERCC6 | Zornitza Stark Marked gene: ERCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.178 | ERCC6 | Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.178 | ERCC6 | Zornitza Stark Phenotypes for gene: ERCC6 were changed from Dwarfism, optic atrophy, mental retardation, cutaneous photosensitivity, pigmentary retinopathy, deafness, neuropathy with slow conduction velocities to Cockayne syndrome, type B MIM#133540 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.177 | ERCC6 | Zornitza Stark Publications for gene: ERCC6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.176 | ERCC6 | Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 25453614; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.176 | GALC | Zornitza Stark Marked gene: GALC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.176 | GALC | Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.176 | GALC | Zornitza Stark Phenotypes for gene: GALC were changed from Galactosylceramide beta-galactosidase deficiency; HMSN to Krabbe Disease MIM#245200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.175 | GALC | Zornitza Stark Publications for gene: GALC were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.174 | GALC | Zornitza Stark Classified gene: GALC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.174 | GALC | Zornitza Stark Gene: galc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.173 | FAM126A | Zornitza Stark Marked gene: FAM126A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.173 | FAM126A | Zornitza Stark Added comment: Comment when marking as ready: Peripheral and central involvement reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.173 | FAM126A | Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.173 | FAM126A | Zornitza Stark Classified gene: FAM126A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.173 | FAM126A | Zornitza Stark Gene: fam126a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.172 | FAM126A | Zornitza Stark Classified gene: FAM126A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.172 | FAM126A | Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.171 | ZFYVE26 | Zornitza Stark Marked gene: ZFYVE26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.171 | ZFYVE26 | Zornitza Stark Gene: zfyve26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.171 | ZFYVE26 | Zornitza Stark Phenotypes for gene: ZFYVE26 were changed from HMSN; Spastic paraplegia 15 to Spastic paraplegia 15 MIM#270700 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.170 | ZFYVE26 | Zornitza Stark Publications for gene: ZFYVE26 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.992 | CYHR1 | Chirag Patel Classified gene: CYHR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.992 | CYHR1 | Chirag Patel Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.991 | CYHR1 |
Chirag Patel gene: CYHR1 was added gene: CYHR1 was added to Mendeliome. Sources: Other Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly Review for gene: CYHR1 was set to AMBER Added comment: ESHG 2023: 5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. Sources: Other |
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| Microcephaly v1.211 | CYHR1 | Chirag Patel Classified gene: CYHR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.211 | CYHR1 | Chirag Patel Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5272 | CYHR1 | Chirag Patel Classified gene: CYHR1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5272 | CYHR1 | Chirag Patel Gene: cyhr1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.210 | CYHR1 |
Chirag Patel gene: CYHR1 was added gene: CYHR1 was added to Microcephaly. Sources: Other Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly Review for gene: CYHR1 was set to AMBER gene: CYHR1 was marked as current diagnostic Added comment: ESHG 2023: 5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5271 | CYHR1 |
Chirag Patel gene: CYHR1 was added gene: CYHR1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: CYHR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYHR1 were set to Neurodevelopmental disorder and microcephaly Review for gene: CYHR1 was set to AMBER gene: CYHR1 was marked as current diagnostic Added comment: ESHG 2023: 5 individuals from 3 families with biallelic LOF variants in CYHR1 (aka ZTRAF1). Presentation with microcephaly, hypotonia, DD, and ID. Expression studies showed mislocalisation of CYHR1. Mutant fibroblasts showed increased lysosomal markers and upregulated lysosomal proteins, leading to impaired autophagy. Zebrafish KO however did not show a phenotype. Sources: Other |
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| Prepair 1000+ v1.1 | SCN1B |
Crystle Lee gene: SCN1B was added gene: SCN1B was added to Prepair 1000+. Sources: Literature Mode of inheritance for gene: SCN1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN1B were set to 36291443; 31709768 Phenotypes for gene: SCN1B were set to Developmental and epileptic encephalopathy 52, MIM#617350 Review for gene: SCN1B was set to AMBER Added comment: Bi-allelic variants cause EE/ID. Heterozygous variants linked to cardiac phenotypes and to GEFS+ Sources: Literature |
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| Brain Calcification v1.93 | NAA60 | Chirag Patel Classified gene: NAA60 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.93 | NAA60 | Chirag Patel Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.93 | NAA60 | Chirag Patel Classified gene: NAA60 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.93 | NAA60 | Chirag Patel Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.990 | NAA60 | Chirag Patel Classified gene: NAA60 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.990 | NAA60 | Chirag Patel Gene: naa60 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.989 | NAA60 | Chirag Patel reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary familial brain calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.989 | NAA60 | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.92 | NAA60 | Chirag Patel reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary familial brain calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v1.92 | NAA60 | Chirag Patel Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.989 | NAA60 |
Chirag Patel gene: NAA60 was added gene: NAA60 was added to Mendeliome. Sources: Other Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAA60 were set to Basal ganglia calcification Review for gene: NAA60 was set to GREEN gene: NAA60 was marked as current diagnostic Added comment: ESHG 2023: 10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift). All with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations). NAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). Sources: Other |
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| Brain Calcification v1.92 | NAA60 |
Chirag Patel gene: NAA60 was added gene: NAA60 was added to Brain Calcification. Sources: Other Mode of inheritance for gene: NAA60 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NAA60 were set to Basal ganglia calcification Review for gene: NAA60 was set to GREEN gene: NAA60 was marked as current diagnostic Added comment: ESHG 2023: 10 individuals from 7 families with biallelic variants in NAA60 (missense and framshift). All with primary brain calcification - 4/10 childhood onset (DD, ID), 6/10 adult onset (cerebellar and pyramidal dysfunction, dystonia, parkinsonism, cognitive impairment, psychiatric manifestations). NAA60 catalyses N-terminal acetylation of transmembrane proteins and localises to Golgi apparatus. In vitro assay of variants showed reduced capacity of Nt acetylation. Fibroblast studies showed significantly reduced levels of phosphate importer (SLC20A2). Loss of function variants in SLC20A2 (~50% of PFBC cases) lead to increased extracellular phosphate (which is thought to lead to calcium deposits in brain). Sources: Other |
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| Mendeliome v1.988 | POPDC2 | Chirag Patel Classified gene: POPDC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.988 | POPDC2 | Chirag Patel Gene: popdc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.987 | POPDC2 |
Chirag Patel gene: POPDC2 was added gene: POPDC2 was added to Mendeliome. Sources: Other Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POPDC2 were set to Sinus node dysfunction Review for gene: POPDC2 was set to GREEN gene: POPDC2 was marked as current diagnostic Added comment: ESHG 2023: 3 families with 7 affected with sinus node dysfunction (bradycardia) and AV block (2/7 HCM). 3 x HMZ variants found in POPDC2 (2 x missense, 1 x indel). Variants predicted to diminish cAMP binding of POPDC2, and shown to disrupt regulation of TREK1 channels (lowering of outward K+ current). POPDC2 is highly expressed in cardiac myocytes, sinoatrial node, and atrioventricular node. Knockdown in zebrafish leads to AV block, and knockout in mice leads to sinus node dysfunction. Sources: Other Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5270 | GPATCH11 |
Chirag Patel gene: GPATCH11 was added gene: GPATCH11 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay Review for gene: GPATCH11 was set to GREEN gene: GPATCH11 was marked as current diagnostic Added comment: ESHG 2023: 3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues. GPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes). Biallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). Mouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory Sources: Other |
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| Syndromic Retinopathy v0.203 | GPATCH11 | Chirag Patel Classified gene: GPATCH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.203 | GPATCH11 | Chirag Patel Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.986 | GPATCH11 | Chirag Patel Classified gene: GPATCH11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.986 | GPATCH11 | Chirag Patel Gene: gpatch11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.202 | GPATCH11 |
Chirag Patel gene: GPATCH11 was added gene: GPATCH11 was added to Syndromic Retinopathy. Sources: Other Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay Review for gene: GPATCH11 was set to GREEN gene: GPATCH11 was marked as current diagnostic Added comment: ESHG 2023: 3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues. GPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes). Biallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). Mouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory Sources: Other |
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| Mendeliome v1.985 | GPATCH11 |
Chirag Patel gene: GPATCH11 was added gene: GPATCH11 was added to Mendeliome. Sources: Other Mode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay Review for gene: GPATCH11 was set to GREEN gene: GPATCH11 was marked as current diagnostic Added comment: ESHG 2023: 3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues. GPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes). Biallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). Mouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory Sources: Other |
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| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5269 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5269 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1869 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5268 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5268 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.984 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.984 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.983 | KCNA3 | Chirag Patel Classified gene: KCNA3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.983 | KCNA3 | Chirag Patel Gene: kcna3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1868 | KCNA3 |
Chirag Patel gene: KCNA3 was added gene: KCNA3 was added to Genetic Epilepsy. Sources: Other Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA3 were set to Neurodevelopmental disorder with epilepsy Review for gene: KCNA3 was set to GREEN gene: KCNA3 was marked as current diagnostic Added comment: ESHG 2023: 10 individuals with de novo missense variants in KCNA3 (K+ channel) Variable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change) Presentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5267 | KCNA3 |
Chirag Patel gene: KCNA3 was added gene: KCNA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA3 were set to Neurodevelopmental disorder Review for gene: KCNA3 was set to GREEN gene: KCNA3 was marked as current diagnostic Added comment: ESHG 2023: 10 individuals with de novo missense variants in KCNA3 (K+ channel) Variable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change) Presentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) Sources: Other |
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| Mendeliome v1.982 | KCNA3 |
Chirag Patel gene: KCNA3 was added gene: KCNA3 was added to Mendeliome. Sources: Other Mode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KCNA3 were set to Neurodevelopmental disorder Review for gene: KCNA3 was set to GREEN gene: KCNA3 was marked as current diagnostic Added comment: ESHG 2023: 10 individuals with de novo missense variants in KCNA3 (K+ channel) Variable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change) Presentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5266 | FSD1L | Chirag Patel Classified gene: FSD1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5266 | FSD1L | Chirag Patel Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.981 | FSD1L | Chirag Patel Classified gene: FSD1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.981 | FSD1L | Chirag Patel Gene: fsd1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.980 | FSD1L |
Chirag Patel gene: FSD1L was added gene: FSD1L was added to Mendeliome. Sources: Other Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder Review for gene: FSD1L was set to GREEN gene: FSD1L was marked as current diagnostic Added comment: ESHG 2023: 8 families with biallelic missense/nonsense variants Presentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia Functional assays: -reduced expression of FSD1L in mature neurons (RNA studies) -very low % mature neurons (neuronal differentiation) -reduced neuronal migration Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5265 | FSD1L |
Chirag Patel gene: FSD1L was added gene: FSD1L was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FSD1L were set to Neurodevelopmental disorder Review for gene: FSD1L was set to GREEN gene: FSD1L was marked as current diagnostic Added comment: ESHG 2023: 8 families with biallelic missense/nonsense variants Presentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia Functional assays: -reduced expression of FSD1L in mature neurons (RNA studies) -very low % mature neurons (neuronal differentiation) -reduced neuronal migration Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5264 | DENND5B | Chirag Patel Classified gene: DENND5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5264 | DENND5B | Chirag Patel Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.292 | DENND5B | Chirag Patel Classified gene: DENND5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.292 | DENND5B | Chirag Patel Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.291 | DENND5B | Chirag Patel Classified gene: DENND5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.291 | DENND5B | Chirag Patel Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.979 | DENND5B | Chirag Patel Classified gene: DENND5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.979 | DENND5B | Chirag Patel Gene: dennd5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5263 | DENND5B |
Chirag Patel gene: DENND5B was added gene: DENND5B was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies Review for gene: DENND5B was set to GREEN gene: DENND5B was marked as current diagnostic Added comment: ESHG 2023: 7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice) DD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7) DENND5B acts as: -GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release -regulator of lipid absorption and homeostasis Functional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution Sources: Other |
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| Mendeliome v1.978 | DENND5B |
Chirag Patel gene: DENND5B was added gene: DENND5B was added to Mendeliome. Sources: Other Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies Review for gene: DENND5B was set to GREEN gene: DENND5B was marked as current diagnostic Added comment: ESHG 2023: 7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice) DD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7) DENND5B acts as: -GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release -regulator of lipid absorption and homeostasis Functional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution Sources: Other |
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| Leukodystrophy v0.290 | DENND5B |
Chirag Patel gene: DENND5B was added gene: DENND5B was added to Leukodystrophy - paediatric. Sources: Other Mode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies Review for gene: DENND5B was set to GREEN gene: DENND5B was marked as current diagnostic Added comment: ESHG 2023: 7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice) DD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7) DENND5B acts as: -GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release -regulator of lipid absorption and homeostasis Functional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5262 | DMAP1 | Chirag Patel Classified gene: DMAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5262 | DMAP1 | Chirag Patel Gene: dmap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5261 | DMAP1 | Chirag Patel Classified gene: DMAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5261 | DMAP1 | Chirag Patel Gene: dmap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.977 | DMAP1 | Chirag Patel Classified gene: DMAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.977 | DMAP1 | Chirag Patel Gene: dmap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5260 | DMAP1 |
Chirag Patel gene: DMAP1 was added gene: DMAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMAP1 were set to Neurodevelopmental disorder Review for gene: DMAP1 was set to GREEN gene: DMAP1 was marked as current diagnostic Added comment: ESHG 2023: 9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF) All with DD, speech delay, hypotonia, and ID Some with epilepsy (4/6), FTT (4/5), and brain malformations (3/5) Drosophila showed abnormal behaviour pattern and bang sensitivity Specific methylation episignature also seen Sources: Other |
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| Mendeliome v1.976 | DMAP1 |
Chirag Patel gene: DMAP1 was added gene: DMAP1 was added to Mendeliome. Sources: Other Mode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DMAP1 were set to Neurodevelopmental disorder Review for gene: DMAP1 was set to GREEN gene: DMAP1 was marked as current diagnostic Added comment: ESHG 2023: 9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF) All with DD, speech delay, hypotonia, and ID Some with epilepsy (4/6), FTT (4/5), and brain malformations (3/5) Drosophila showed abnormal behaviour pattern and bang sensitivity Specific methylation episignature also seen Sources: Other |
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| Mandibulofacial Acrofacial dysostosis v1.7 | VGLL2 | Chirag Patel Classified gene: VGLL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mandibulofacial Acrofacial dysostosis v1.7 | VGLL2 | Chirag Patel Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.975 | VGLL2 | Chirag Patel Classified gene: VGLL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.975 | VGLL2 | Chirag Patel Gene: vgll2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.974 | VGLL2 |
Chirag Patel gene: VGLL2 was added gene: VGLL2 was added to Mendeliome. Sources: Other Mode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VGLL2 were set to Syngnathia Review for gene: VGLL2 was set to GREEN gene: VGLL2 was marked as current diagnostic Added comment: ESHG 2023: 4 families/7 affected individuals with isolated unilateral/bilateral syngnathia biallelic truncating variants in VGLL2 But not phenotype in KO mouse or zebrafish models Sources: Other |
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| Mandibulofacial Acrofacial dysostosis v1.6 | VGLL2 |
Chirag Patel gene: VGLL2 was added gene: VGLL2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Other Mode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VGLL2 were set to Syngnathia Review for gene: VGLL2 was set to GREEN Added comment: ESHG 2023: 4 families/7 affected individuals with isolated unilateral/bilateral syngnathia biallelic truncating variants in VGLL2 But not phenotype in KO mouse or zebrafish models Sources: Other |
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| Regression v0.528 | ZIC1 | Chirag Patel Classified gene: ZIC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Chirag Patel Added comment: Comment on list classification: No evidence of regression | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Chirag Patel Gene: zic1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Chirag Patel Classified gene: ZIC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Chirag Patel Added comment: Comment on list classification: No evidence of regression | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.528 | ZIC1 | Chirag Patel Gene: zic1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.527 | ZIC1 | Chirag Patel reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.973 | ITFG2 | Chirag Patel Classified gene: ITFG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.973 | ITFG2 | Chirag Patel Gene: itfg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.972 | ITFG2 | Chirag Patel reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5259 | ITFG2 | Chirag Patel Classified gene: ITFG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5259 | ITFG2 | Chirag Patel Gene: itfg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5258 | ITFG2 | Chirag Patel reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.972 | COL4A6 | Ain Roesley reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33840813; Phenotypes: Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PMM2 | Zornitza Stark Marked gene: PMM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PMM2 | Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PMM2 | Zornitza Stark Classified gene: PMM2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.133 | PMM2 | Zornitza Stark Gene: pmm2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.132 | PLP1 | Zornitza Stark Marked gene: PLP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.132 | PLP1 | Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.132 | PLP1 | Zornitza Stark Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920 to Spastic paraplegia 2, X-linked MIM#312920 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.131 | PLP1 | Zornitza Stark Classified gene: PLP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.131 | PLP1 | Zornitza Stark Gene: plp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.130 | PLA2G6 | Zornitza Stark Marked gene: PLA2G6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.130 | PLA2G6 | Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.130 | PLA2G6 | Zornitza Stark Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 to Neurodegeneration with brain iron accumulation 2B MIM#610217 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.129 | PLA2G6 | Zornitza Stark Classified gene: PLA2G6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.129 | PLA2G6 | Zornitza Stark Gene: pla2g6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.128 | PIGA | Zornitza Stark Marked gene: PIGA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.128 | PIGA | Zornitza Stark Gene: piga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.128 | PIGA | Zornitza Stark Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.127 | PIGA | Zornitza Stark Classified gene: PIGA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.127 | PIGA | Zornitza Stark Gene: piga has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.126 | PDHX | Zornitza Stark Marked gene: PDHX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.126 | PDHX | Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.126 | PDHX | Zornitza Stark Classified gene: PDHX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.126 | PDHX | Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.125 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.125 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.125 | PDHA1 | Zornitza Stark Classified gene: PDHA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.125 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.124 | PANK2 | Zornitza Stark Publications for gene: PANK2 were set to PMID: 33098801 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.123 | PANK2 | Zornitza Stark Classified gene: PANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.123 | PANK2 | Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.122 | PAK3 | Zornitza Stark Publications for gene: PAK3 were set to 25666757 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.121 | PAK3 | Zornitza Stark Classified gene: PAK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.121 | PAK3 | Zornitza Stark Gene: pak3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.120 | PAFAH1B1 | Zornitza Stark Marked gene: PAFAH1B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.120 | PAFAH1B1 | Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.120 | PAFAH1B1 | Zornitza Stark Classified gene: PAFAH1B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.120 | PAFAH1B1 | Zornitza Stark Gene: pafah1b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.119 | NFIX | Zornitza Stark Marked gene: NFIX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.119 | NFIX | Zornitza Stark Gene: nfix has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.119 | NFIX | Zornitza Stark Classified gene: NFIX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.119 | NFIX | Zornitza Stark Gene: nfix has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.118 | NAA10 | Zornitza Stark Marked gene: NAA10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.118 | NAA10 | Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.118 | NAA10 | Zornitza Stark Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855 to Ogden syndrome MIM#300855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.117 | NAA10 | Zornitza Stark Classified gene: NAA10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.117 | NAA10 | Zornitza Stark Gene: naa10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Marked gene: MT-TL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Added comment: Comment when marking as ready: Note only detectable by appropriate assays (WGS, mtDNA sequencing). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Marked gene: MT-TL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.116 | MT-TL1 | Zornitza Stark Phenotypes for gene: MT-TL1 were changed from MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000 to MELAS MIM#540000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.115 | MT-TL1 | Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.115 | MT-TL1 | Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.115 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.114 | MT-TL1 | Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.114 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.114 | MT-TL1 | Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.114 | MT-TL1 | Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.236 | UBE3B | Zornitza Stark Marked gene: UBE3B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.236 | UBE3B | Zornitza Stark Gene: ube3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.236 | UBE3B | Zornitza Stark Classified gene: UBE3B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.236 | UBE3B | Zornitza Stark Gene: ube3b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.235 | UBE3B |
Zornitza Stark gene: UBE3B was added gene: UBE3B was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBE3B were set to 23200864; 23687348; 37010288 Phenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, OMIM:244450 Review for gene: UBE3B was set to AMBER Added comment: Although there are three unrelated cases associated with biallelic variants in UBE3B gene and reported with clefting, clefting has only been reported as a minor clinical indication. PMID:23687348 - One of two patients reported with biallelic variants in UBE3B in this study and one of four patients reported in PMID:23200864 and reviewed here had submucous cleft palate. DECIPHER database - One of three patients with homozygous sequence variants in UBE3B had median cleft palate. Sources: Expert Review |
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| Clefting disorders v0.234 | SMARCB1 | Zornitza Stark Marked gene: SMARCB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.234 | SMARCB1 | Zornitza Stark Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.234 | SMARCB1 | Zornitza Stark Classified gene: SMARCB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.234 | SMARCB1 | Zornitza Stark Gene: smarcb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.233 | SMARCB1 |
Zornitza Stark gene: SMARCB1 was added gene: SMARCB1 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCB1 were set to 25168959; 37010288 Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, OMIM:614608 Review for gene: SMARCB1 was set to AMBER Added comment: Although there are 3 unrelated cases reported with cleft palate in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. PMID:25168959 - Two of ten patients reported with Coffin-Siris syndrome and heterozygous variants in SMARCB1 had cleft palate. DECIPHER database - One of 13 patients identified with heterozygous sequence variants in SMARCB1 had cleft palate. Sources: Expert Review |
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| Clefting disorders v0.232 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.232 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.232 | NOTCH2 | Zornitza Stark Classified gene: NOTCH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.232 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.231 | NOTCH2 |
Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NOTCH2 were set to 9188663; 30329210; 37010288 Phenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, OMIM:102500 Review for gene: NOTCH2 was set to AMBER Added comment: Although there are three cases reported with cleft lip/ palate or cleft of uvula, these are reported only in a minor proportion of patients. PMID:9188663 - An 8.5-year-old boy with NOTCH2 variant and Hajdu-Cheney syndrome was reported with cleft lip and palate. PMID:30329210 - A 32-year-old male patient with a de novo truncating variant in NOTCH2 and presenting with Hajdu-Cheney syndrome had high arched palate and cleft of uvula. DECIPHER database - One of seven patients with heterozygous sequence variants in NOTCH2 was identified with submucous cleft hard palate. Sources: Expert Review |
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| Clefting disorders v0.230 | AUTS2 | Zornitza Stark Marked gene: AUTS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.230 | AUTS2 | Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.230 | AUTS2 | Zornitza Stark Classified gene: AUTS2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.230 | AUTS2 | Zornitza Stark Gene: auts2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.229 | AUTS2 |
Zornitza Stark gene: AUTS2 was added gene: AUTS2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AUTS2 were set to 31788251; 37010288 Phenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834 Review for gene: AUTS2 was set to AMBER Added comment: There are a total of five cases reported with cleft lip/ palate. However, clefting has only been reported in less than 10% of patients with monoalellic variants in AUTS2 from the DECIPHER database. PMID:31788251 - A patient identified with a de novo heterozygous AUTS2 variant (c.1464_1467del ACTC/ p.Tyr488Ter) was reported with autism and cleft lip and palate. DECIPHER database - Of 44 patients reported with heterozygous sequence variants, 4 patients had cleft lip or cleft palate (2 - cleft palate; 1 - cleft soft palate; 1 - unilateral cleft lip). Sources: Expert Review |
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| Cancer Predisposition_Paediatric v0.130 | ATRX | Zornitza Stark Marked gene: ATRX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.130 | ATRX | Zornitza Stark Gene: atrx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.130 | ATRX | Zornitza Stark Phenotypes for gene: ATRX were changed from Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to Intellectual disability-hypotonic facies syndrome, X-linked, MIM# 309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.129 | ATRX | Zornitza Stark Classified gene: ATRX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.129 | ATRX | Zornitza Stark Gene: atrx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.175 | CACNA1C | Zornitza Stark Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities to Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.174 | CACNA1C | Zornitza Stark Classified gene: CACNA1C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.174 | CACNA1C | Zornitza Stark Gene: cacna1c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.173 | CACNA1C | Zornitza Stark edited their review of gene: CACNA1C: Added comment: Evidence only of association of a specific missense with HCM.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cancer Predisposition_Paediatric v0.128 | ATRX |
Laura Raiti gene: ATRX was added gene: ATRX was added to Cancer Predisposition_Paediatric. Sources: Literature Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ATRX were set to PMID: 28371217, 29706636, 28371197 Phenotypes for gene: ATRX were set to Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. Penetrance for gene: ATRX were set to unknown Review for gene: ATRX was set to GREEN Added comment: Early onset osteosarcoma and development of metachronous osteosarcoma tumours suggestive of cancer predisposition. Small numbers but at least 3 unrelated individuals reported in literature. Sources: Literature |
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| Mendeliome v1.972 | RDH11 | Elena Savva reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732, 34988992; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5258 | HCN2 |
Elena Savva gene: HCN2 was added gene: HCN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other Mode of inheritance for gene: HCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: HCN2 were set to Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17} MIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related Review for gene: HCN2 was set to AMBER Added comment: ICG 2023 conference - cohort of 20 individuals where >80% had a form of intellectual disability (half were severe) and/or seizures. Some had isolated intellectual disability, especially those with a recurring de novo p.E478del. - Patients were both mono- and biallelic. - Monoallelic individuals had de novo missense and an inframe deletion. Biallelic individuals had a mix of missense and PTC Sources: Other |
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| Miscellaneous Metabolic Disorders v1.29 | ALDOB | Zornitza Stark Marked gene: ALDOB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | ALDOB | Zornitza Stark Gene: aldob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | ALDOB | Zornitza Stark Classified gene: ALDOB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.29 | ALDOB | Zornitza Stark Gene: aldob has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Miscellaneous Metabolic Disorders v1.28 | ALDOB |
Zornitza Stark gene: ALDOB was added gene: ALDOB was added to Miscellaneous Metabolic Disorders. Sources: Expert Review Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to Fructose intolerance, hereditary, MIM# 229600 Review for gene: ALDOB was set to GREEN Added comment: Well established gene-disease association. Clinical symptoms of HFI include gastrointestinal distress (nausea, vomiting, diarrhea, abdominal pain, anorexia), jaundice, bleeding tendency, renal tubular dysfunction and metabolic disturbances following dietary exposure to fructose, sucrose, or sorbitol. If large quantities of fructose are ingested, lethargy, seizures, and/or progressive coma may ensue. Persistent fructose exposure can result in chronic growth restriction, failure to thrive, renal and hepatic failure, and risk of death. Symptoms appear in infancy at the time of weaning. Treatment: Lifelong dietary restriction of fructose, sucrose, and sorbitol. Assessed as 'strong actionability' by ClinGen. Of particular note, a 24% sucrose solution (routinely administered to hospitalized neonates for minor procedures) should not be given to neonates known to have HFI. This recommendation is supported by case reports of reported accidental and iatrogenic fructose infusion-related serious organ failure events and/or deaths. Alerts should be placed in the patient's chart or medical record to notify practitioners to the HFI diagnosis and to the medical risks associated with exposures to fructose and related metabolites. The patient is advised to wear at all times a medically approved alert bracelet/necklace that provides information about the diagnosis of HFI. Evidence from 50 patients presenting with confirmed and symptomatic HFI shows that upon dietary restriction of fructose, the improvement observed is dramatic: vomiting and gastrointestinal symptoms resolved nearly immediately, bleeding tendency resolves in ~24 hours, renal tubular dysfunction can resolve in as little as 3 days, and clinical and biological findings, with the exception of hepatomegaly, resolved within a few weeks. Normal growth occurred in 2-3 years. In the 50 symptomatic patients and 5 patients who received treatment from birth, liver enlargement persisted in spite of treatment and resolution of fibrosis. Sources: Expert Review |
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| Mendeliome v1.972 | SLC4A3 | Chern Lim reviewed gene: SLC4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36806574; Phenotypes: Short QT syndrome 7, MIM#620231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.5 | SLC4A3 | Chern Lim reviewed gene: SLC4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36806574; Phenotypes: Short QT syndrome 7, MIM#620231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.228 | ARID1A | Zornitza Stark Marked gene: ARID1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.228 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.228 | ARID1A | Zornitza Stark Classified gene: ARID1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.228 | ARID1A | Zornitza Stark Gene: arid1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.227 | ARID1A |
Zornitza Stark gene: ARID1A was added gene: ARID1A was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1A were set to 25168959; 37010288 Phenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 (MIM#614607) Review for gene: ARID1A was set to AMBER Added comment: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene. PMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate. DECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate. Sources: Expert Review |
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| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Marked gene: ZC4H2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Classified gene: ZC4H2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.226 | ZC4H2 | Zornitza Stark Gene: zc4h2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.225 | ZC4H2 |
Zornitza Stark gene: ZC4H2 was added gene: ZC4H2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZC4H2 were set to 31206972; 37010288 Phenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, MIM# 314580 Review for gene: ZC4H2 was set to GREEN Added comment: There are ten unrelated patients reported with cleft palate. PMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. Sources: Expert Review |
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| Clefting disorders v0.224 | STAG2 | Zornitza Stark Marked gene: STAG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.224 | STAG2 | Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.224 | STAG2 | Zornitza Stark Publications for gene: STAG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.223 | STAG2 | Zornitza Stark edited their review of gene: STAG2: Changed publications: 28296084, 29263825, 30158690, 31334757, 33014403, 37010288 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.223 | STAG2 | Zornitza Stark Classified gene: STAG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.223 | STAG2 | Zornitza Stark Gene: stag2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.222 | STAG2 |
Zornitza Stark gene: STAG2 was added gene: STAG2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022 Review for gene: STAG2 was set to GREEN Added comment: There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate. PMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication. DECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288). Sources: Expert Review |
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| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Marked gene: SMARCA4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Classified gene: SMARCA4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.221 | SMARCA4 | Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.220 | SMARCA4 |
Zornitza Stark gene: SMARCA4 was added gene: SMARCA4 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCA4 were set to 25168959; 37010288 Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609 Review for gene: SMARCA4 was set to GREEN Added comment: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula. PMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate. DECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288) Sources: Expert Review |
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| Clefting disorders v0.219 | POGZ | Zornitza Stark Marked gene: POGZ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.219 | POGZ | Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.219 | POGZ | Zornitza Stark Classified gene: POGZ as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.219 | POGZ | Zornitza Stark Gene: pogz has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.218 | POGZ |
Zornitza Stark gene: POGZ was added gene: POGZ was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POGZ were set to 26942287; 26739615 Phenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364 Review for gene: POGZ was set to AMBER Added comment: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288). Sources: Expert Review |
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| Cerebral Palsy v1.113 | TUBB2A | Zornitza Stark Marked gene: TUBB2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.113 | TUBB2A | Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.113 | TUBB2A | Zornitza Stark Classified gene: TUBB2A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.113 | TUBB2A | Zornitza Stark Gene: tubb2a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.112 | TUBB3 | Zornitza Stark Marked gene: TUBB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.112 | TUBB3 | Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.112 | TUBB3 | Zornitza Stark Phenotypes for gene: TUBB3 were changed from Cortical dysplasia, complex, with other brain malformations MIM#614039; Fibrosis of extraocular muscles, congenital MIM#600638 to Cortical dysplasia, complex, with other brain malformations MIM#614039 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.111 | TUBB3 | Zornitza Stark Classified gene: TUBB3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.111 | TUBB3 | Zornitza Stark Gene: tubb3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Viral Infections v0.109 | TNFRSF9 |
Peter McNaughton gene: TNFRSF9 was added gene: TNFRSF9 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: TNFRSF9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNFRSF9 were set to PMID: 37144041 Phenotypes for gene: TNFRSF9 were set to EBV associated lymphoproliferative disease Review for gene: TNFRSF9 was set to GREEN Added comment: Patient with novel biallelic variants (c.208 + 1>AT and p.T151K) with EBV induced lymphoproliferative disease and chronic active EBV. Multiple previous patients reported with EBV associated disease (table1). Sources: Literature |
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| Inflammatory bowel disease v0.101 | SOCS1 |
Peter McNaughton gene: SOCS1 was added gene: SOCS1 was added to Inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: SOCS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SOCS1 were set to PMID: 37156989 Phenotypes for gene: SOCS1 were set to Enteropathy Review for gene: SOCS1 was set to GREEN Added comment: 2x patients 1x presenting with treatment refractory Crohn-like disease and 1 with lymphocytic leiomyositis. Potential for targeted therapies leading to remission so important to differentiate from polygenic IBD. Sources: Literature |
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| Disorders of immune dysregulation v0.176 | PLCG1 |
Peter McNaughton gene: PLCG1 was added gene: PLCG1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PLCG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLCG1 were set to PMID: 37422272 Phenotypes for gene: PLCG1 were set to Immune dysregulation Mode of pathogenicity for gene: PLCG1 was set to Other Review for gene: PLCG1 was set to AMBER Added comment: Single 7yo proband presented with thrombocytopaenia and lymphadenopathy. De Novo , c.3062C>T, p.S1021F with functional testing supportive of GOF mechanism of disease Sources: Literature |
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| Mendeliome v1.972 | C1GALT1C1 | Zornitza Stark commented on gene: C1GALT1C1: Two maternal half-brothers with missense variant and aHUS phenotype reported, increasing evidence for association. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.972 | C1GALT1C1 | Zornitza Stark reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37216524; Phenotypes: Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.53 | C1GALT1C1 | Zornitza Stark Phenotypes for gene: C1GALT1C1 were changed from atypical hemolytic-uremic syndrome MONDO#0016244, C1GALT1C1-related to Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.52 | C1GALT1C1 | Zornitza Stark Publications for gene: C1GALT1C1 were set to 36599939 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark edited their review of gene: C1GALT1C1: Changed publications: 37216524 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.51 | C1GALT1C1 | Zornitza Stark Mode of inheritance for gene: C1GALT1C1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Classified gene: C1GALT1C1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.50 | C1GALT1C1 | Zornitza Stark Gene: c1galt1c1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Atypical Haemolytic Uraemic Syndrome_MPGN v0.49 | C1GALT1C1 | Zornitza Stark reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5257 | ZMYM3 | Zornitza Stark Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related to Intellectual developmental disorder, X-linked 112, MIM# 301111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5256 | ZMYM3 | Zornitza Stark reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 112, MIM# 301111; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.972 | ZMYM3 | Zornitza Stark Phenotypes for gene: ZMYM3 were changed from Neurodevelopmental disorder, MONDO:0700092, ZMYM3-related to Intellectual developmental disorder, X-linked 112, MIM# 301111 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.971 | ZMYM3 | Zornitza Stark reviewed gene: ZMYM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 112, MIM# 301111; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | MFF | Sangavi Sivagnanasundram reviewed gene: MFF: Rating: RED; Mode of pathogenicity: None; Publications: 26783368; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2 MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | LYST | Sangavi Sivagnanasundram reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: None; Publications: 24521565, 15790783, 20301751; Phenotypes: Chediak-Higashi syndrome MIM#214500, MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | KARS | Sangavi Sivagnanasundram reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20920668; Phenotypes: Charcot-Marie-Tooth disease, recessive intermediate, B (MIM#613641, MONDO:0013338); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | HMBS | Sangavi Sivagnanasundram reviewed gene: HMBS: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301372, 8563760; Phenotypes: Porphyria, acute intermittent MIM#176000, MONDO:0008294; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | HADHB | Sangavi Sivagnanasundram reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: None; Publications: 36063482, 24664533; Phenotypes: Mitochondrial Trifunctional Protein Deficiency 2 with Myopathy and Neuropathy MIM#320300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | HADHA | Sangavi Sivagnanasundram reviewed gene: HADHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 8871579, 23868323, 33744096, 12838198, 36063482; Phenotypes: LCHAD deficiency MIM#609016, Mitochondrial trifunctional protein deficiency MIM#609015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | GSN | Sangavi Sivagnanasundram reviewed gene: GSN: Rating: AMBER; Mode of pathogenicity: None; Publications: 8684801, 228009, 3513049; Phenotypes: Amyloidosis, Finnish type MIM#105120; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | GBE1 | Sangavi Sivagnanasundram reviewed gene: GBE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23034915, 1763891, 8494336, 20301758; Phenotypes: Polyglucosan body disease, adult form MIM#263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory Disorders v1.4 | PMVK |
Peter McNaughton gene: PMVK was added gene: PMVK was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature Mode of inheritance for gene: PMVK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMVK were set to PMID: 37364720; 36410683 Phenotypes for gene: PMVK were set to Autoinflammation Review for gene: PMVK was set to AMBER Added comment: Five-year-old girl with recurring hyperinflammatory episodes initially presenting at 9mo with fever, arthritis, aphthous stomatitis and maculopapular rash with homozygous variant in PMVK p.Val131Ala (NM_006556.4: c.392T>C) with clinical overlap with MVK deficiency. Supportive functional data. Second patient, 6yo boy with compound heterozygous c.329G >A (p. Arg110Gln) and c.316G >A (p. Val106Met) mutations in trans configuration with similar phenotype. Sources: Literature |
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| Susceptibility to Viral Infections v0.109 | RIPK3 |
Peter McNaughton gene: RIPK3 was added gene: RIPK3 was added to Susceptibility to Viral Infections. Sources: Literature Mode of inheritance for gene: RIPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RIPK3 were set to PMID: 37083451 Phenotypes for gene: RIPK3 were set to Recurrent HSV encephalitis Review for gene: RIPK3 was set to AMBER Added comment: Single female patient with independent episodes of HSE at 6 and 17 months of age and with autoimmune encephalitis 1 month after the second episode of HSE with two heterozygous mutations of RIPK3 predicted to be loss of function (pLOF): p. Arg422* (c.1264 C > T, MAF 0.001568, CADD 35) and p. Pro493fs9* (c.1475 C > CC, MAF 0.002611, CADD 24.2). Extensive supportive functional data including RIPK3 knockout human pluripotent stem cell–derived cortical neurons. Sources: Literature |
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| Hypertrophic cardiomyopathy v0.173 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.173 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v0.172 | ACTN2 | Zornitza Stark reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.18 | ACTN2 | Zornitza Stark Phenotypes for gene: ACTN2 were changed from Intrinsic cardiomyopathy to Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.17 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.17 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.16 | ACTN2 | Zornitza Stark reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.971 | ACTN2 | Zornitza Stark Classified gene: ACTN2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.971 | ACTN2 | Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.970 | NFE2L2 | Zornitza Stark Mode of inheritance for gene: NFE2L2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.969 | NFE2L2 | Zornitza Stark edited their review of gene: NFE2L2: Changed phenotypes: Immunodeficiency, developmental delay, and hypohomocysteinemia, MIM# 617744, Recurrent respiratory and skin infection, Growth retardation, Developmental delay, borderline ID, White matter cerebral lesions; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.969 | SMAD1 | Bryony Thompson Classified gene: SMAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.969 | SMAD1 | Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease validity curation by ClinGen PH VCEP 21/11/2022 - Only two probands reported to have PAH and SMAD1 variants. The variants are missense variants without functional data at the time of curation. Thus, SMAD1 is classified as disputed for PAH based upon insufficient genetic evidence over multiple years of research. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.969 | SMAD1 | Bryony Thompson Gene: smad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.157 | OPDM1 | Bryony Thompson Phenotypes for STR: OPDM1 were changed from Oculopharyngodistal myopathy 1 MIM#164310 to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.156 | OPDM1 | Bryony Thompson Publications for STR: OPDM1 were set to 31332380; 34047774 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.155 | OPDM1 | Bryony Thompson edited their review of STR: OPDM1: Changed publications: 31332380, 34047774, 37339631 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.155 | OPDM1 | Bryony Thompson edited their review of STR: OPDM1: Added comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM; Changed phenotypes: Oculopharyngodistal myopathy 1 MIM#164310, Amyotrophic lateral sclerosis MONDO:0004976 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.191 | LRP12-ALS_CGG | Bryony Thompson Classified STR: LRP12-ALS_CGG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.191 | LRP12-ALS_CGG | Bryony Thompson Str: lrp12-als_cgg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.190 | LRP12-ALS_CGG |
Bryony Thompson STR: LRP12-ALS_CGG was added STR: LRP12-ALS_CGG was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for STR: LRP12-ALS_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: LRP12-ALS_CGG were set to 37339631 Phenotypes for STR: LRP12-ALS_CGG were set to Amyotrophic lateral sclerosis MONDO:0004976 Review for STR: LRP12-ALS_CGG was set to GREEN STR: LRP12-ALS_CGG was marked as clinically relevant Added comment: The CGG repeat expansion in the 5’UTR of LRP12 was identified in 5 ALS families and 2 simplex cases. 61-100 repeats associated with ALS, whereas >100 repeats causes OPDM. Toxic gain-of-function is the mechanism of disease. Authors’ suggest the differences in the levels of toxic RNA and MBNL1 dysfunction, in turn dependent on repeat length, may determine whether the affected individual develops ALS or OPDM. Sources: Literature |
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| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Marked gene: ATP7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.28 | ATP7B | Zornitza Stark Phenotypes for gene: ATP7B were changed from dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia to Wilson disease, MIM# 277900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.27 | ATP7B | Zornitza Stark Classified gene: ATP7B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.27 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | ATP7B | Zornitza Stark reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Marked gene: AP4M1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.26 | AP4M1 | Zornitza Stark Phenotypes for gene: AP4M1 were changed from progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition to Spastic paraplegia 50, autosomal recessive, MIM# 612936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.25 | AP4M1 | Zornitza Stark Classified gene: AP4M1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.25 | AP4M1 | Zornitza Stark Gene: ap4m1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP4M1 | Zornitza Stark changed review comment from: Brain iron accumulation is not a consistent/common feature of this condition.; to: Brain iron accumulation is a rarely reported feature. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP4M1 | Zornitza Stark reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, MIM# 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Marked gene: AP1S2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.24 | AP1S2 | Zornitza Stark Phenotypes for gene: AP1S2 were changed from spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition to Pettigrew syndrome, MIM# 304340 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.23 | AP1S2 | Zornitza Stark Classified gene: AP1S2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.23 | AP1S2 | Zornitza Stark Gene: ap1s2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neurodegeneration with brain iron accumulation v0.22 | AP1S2 | Zornitza Stark reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: None; Publications: 23756445; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Marked gene: PGAP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Classified gene: PGAP3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.217 | PGAP3 | Zornitza Stark Gene: pgap3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.216 | PGAP3 |
Zornitza Stark gene: PGAP3 was added gene: PGAP3 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PGAP3 were set to 28390064; 37010288 Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716 Review for gene: PGAP3 was set to GREEN Added comment: PMID:28390064 - 10 individuals from eight families presented with developmental delay, severe intellectual disability, distinct facial dysmorphism and increased alkaline phosphatase. Nine individuals from seven families were homozygous for the same variant (c.402dupC/ p.M135Hfs*28), while one had a different homozygous variant ( c.817_820delGACT/ p.D273Sfs*37). Of nine individuals with p.M135Hfs*28 variant, eight from seven families (except one of the two patients from family 7) had cleft palate. But, the only patient with the different variant did not have cleft palate. DECIPHER database - Of seven individuals reported with biallelic sequence variants, three with homozygous variants were reported with cleft palate and two with compound heterozygous variants were reported with cleft soft palate (PMID:37010288). Sources: Expert Review |
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| Clefting disorders v0.215 | KMT2A | Zornitza Stark Marked gene: KMT2A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.215 | KMT2A | Zornitza Stark Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.215 | KMT2A | Zornitza Stark Classified gene: KMT2A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.215 | KMT2A | Zornitza Stark Gene: kmt2a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.214 | KMT2A |
Zornitza Stark gene: KMT2A was added gene: KMT2A was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: KMT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT2A were set to 25929198; 30305169; 31710778; 37010288 Phenotypes for gene: KMT2A were set to Wiedemann-Steiner syndrome, OMIM:605130 Review for gene: KMT2A was set to AMBER Added comment: Although there are more than three cases reported with clefting, it is only present in a very small subsection of patients with KMT2A monoallelic variants. PMID:25929198 - De novo KMT2A variant (p.Arg1083Ter) in monozygotic twins and they had submucosal cleft palate. PMID:30305169 - Two of 14 patients with KMT2A variants and presenting with Wiedemann–Steiner syndrome had cleft palate. PMID:31710778 - Both patients reported with KMT2A variants had only high arched palate and not cleft palate. DECIPHER database - None of the reported patients had cleft lip/ palate and only one of 115 had bifid uvula (PMID:37010288) Sources: Expert Review |
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| Clefting disorders v0.213 | KAT6B | Zornitza Stark Marked gene: KAT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.213 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.213 | KAT6B | Zornitza Stark Phenotypes for gene: KAT6B were changed from Genitopatellar syndrome, 606170; GTPTS to Genitopatellar syndrome, OMIM:606170; SBBYSS syndrome, OMIM:603736 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.212 | KAT6B | Zornitza Stark Publications for gene: KAT6B were set to 20182757; 27031267 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.211 | KAT6B | Zornitza Stark Mode of inheritance for gene: KAT6B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.210 | KAT6B | Zornitza Stark Classified gene: KAT6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.210 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.209 | GLI2 | Zornitza Stark Marked gene: GLI2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.209 | GLI2 | Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.209 | GLI2 | Zornitza Stark Classified gene: GLI2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.209 | GLI2 | Zornitza Stark Gene: gli2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.208 | GLI2 |
Zornitza Stark gene: GLI2 was added gene: GLI2 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GLI2 were set to 24744436; 37010288 Phenotypes for gene: GLI2 were set to Culler-Jones syndrome, OMIM:615849; Holoprosencephaly 9, OMIM:610829 Review for gene: GLI2 was set to GREEN Added comment: Although clefting is a minor feature in patients reported with monoallelic GLI2 variants, it has been reported in more than 15 cases. In ~400 screened individuals with HPE spectrum disorders, 112 individuals were identified with variants in GLI2 gene, of which 16 cases had cleft lip/ palate (PMID:24744436). Three out of 17 patients reported with heterozygous GLI2 sequence variants in the DECIPHER database presented with cleft lip/ palate as one of the phenotypes (PMID:37010288). Sources: Expert Review |
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| Cerebral Palsy v1.110 | MSL3 | Zornitza Stark Marked gene: MSL3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.110 | MSL3 | Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.110 | MSL3 | Zornitza Stark Classified gene: MSL3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.110 | MSL3 | Zornitza Stark Gene: msl3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.109 | MOCS2 | Zornitza Stark Marked gene: MOCS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.109 | MOCS2 | Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.109 | MOCS2 | Zornitza Stark Classified gene: MOCS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.109 | MOCS2 | Zornitza Stark Gene: mocs2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Marked gene: MEF2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Classified gene: MEF2C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.108 | MEF2C | Zornitza Stark Gene: mef2c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.107 | MOCS1 | Zornitza Stark Marked gene: MOCS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.107 | MOCS1 | Zornitza Stark Gene: mocs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.107 | MOCS1 | Zornitza Stark Classified gene: MOCS1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.107 | MOCS1 | Zornitza Stark Gene: mocs1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Marked gene: MCOLN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Classified gene: MCOLN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.106 | MCOLN1 | Zornitza Stark Gene: mcoln1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.105 | MAST1 | Zornitza Stark Marked gene: MAST1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.105 | MAST1 | Zornitza Stark Gene: mast1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.105 | MAST1 | Zornitza Stark Classified gene: MAST1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.105 | MAST1 | Zornitza Stark Gene: mast1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.207 | FGFR3 | Zornitza Stark Marked gene: FGFR3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.207 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.207 | FGFR3 | Zornitza Stark Classified gene: FGFR3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.207 | FGFR3 | Zornitza Stark Gene: fgfr3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.206 | FGFR3 |
Zornitza Stark gene: FGFR3 was added gene: FGFR3 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FGFR3 were set to 22565872; 29150894; 37010288 Phenotypes for gene: FGFR3 were set to Muenke syndrome, OMIM:602849; Hypochondroplasia, OMIM:146000 Review for gene: FGFR3 was set to AMBER Added comment: Although there are more than three unrelated cases reported with cleft lip and/or palate, this is not consistently found in individuals with monoallelic variants in FGFR3 gene. PMID:22565872 included 21 individuals with variants in FGFR3 and presenting with Muenke syndrome in this study, of which 16 had structural anomaly of the palate. However, only one patient had cleft lip and palate. PMID:29150894 reported a father and two children with FGFR3 variant and presenting with hypochondroplasia, of which only the daughter had cleft palate. 2 out of 15 individuals reported in DECIPHER database with monoallelic sequence variants had cleft palate. Sources: Expert Review |
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| Clefting disorders v0.205 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.205 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.205 | CNTNAP1 | Zornitza Stark Classified gene: CNTNAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.205 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.204 | CNTNAP1 |
Zornitza Stark gene: CNTNAP1 was added gene: CNTNAP1 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CNTNAP1 were set to 28374019; 29511323; 29882456; 37010288 Phenotypes for gene: CNTNAP1 were set to Hypomyelinating neuropathy, congenital, 3, OMIM:618186 Review for gene: CNTNAP1 was set to GREEN Added comment: There is sufficient evidence (3 unrelated cases) for the association of biallelic variants in this gene with cleft palate. PMID:28374019 - Cleft palate was reported in two children from a large Israeli consanguineous family of Palestinian ancestry with a homozygous stop-gain variant in CNTNAP1(c.2015G>A/ p.Trp672Ter). PMID:29511323/ 37010288 - There is one individual reported with compound heterozygous stop gain variants in CNTNAP1 (c.2687G​>A/ p.Trp896Ter & c.1861C​>T/ p.Arg621Ter) had cleft palate from DECIPHER database. PMID:29882456 - An eight year old American male patient with a homozygous CNTNAP1 variant (c.1163G>C/ p.Arg388Pro) had cleft palate. Sources: Expert Review |
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| Clefting disorders v0.203 | ARID1B | Zornitza Stark Marked gene: ARID1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.203 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.203 | ARID1B | Zornitza Stark Classified gene: ARID1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.203 | ARID1B | Zornitza Stark Gene: arid1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.202 | ARID1B |
Zornitza Stark gene: ARID1B was added gene: ARID1B was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARID1B were set to 30349098; 37010288 Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome 1, OMIM:135900 Review for gene: ARID1B was set to AMBER Added comment: Although there are more than three unrelated cases with ARID1B monoallelic variants reported with either cleft palate, cleft uvula or bifid uvula, clefting is not consistently present in individuals with ARID1B variants. PMID:30349098 - On this web-based survey based on previously reported features of individuals with variants in ARID1B gene (143 in total), which also included submissions to DECIPHER database, two individuals were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. Of >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184​insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156​insA/ p.Asn1386LysfsTer18 & c.2620+5G​>A) were reported with bifid uvula. Sources: Expert Review |
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| Clefting disorders v0.201 | CHD4 | Zornitza Stark Marked gene: CHD4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Classified gene: CHD4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.201 | CHD4 | Zornitza Stark Gene: chd4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.200 | CHD4 |
Zornitza Stark gene: CHD4 was added gene: CHD4 was added to Clefting disorders. Sources: Expert Review Mode of inheritance for gene: CHD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD4 were set to 31388190; 37010288 Phenotypes for gene: CHD4 were set to Sifrim-Hitz-Weiss syndrome, MIM 617159 Review for gene: CHD4 was set to AMBER Added comment: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistent among patients identified with monoallelic variants in CHD4 gene. PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one individual (p.Gln715Ter) had cleft palate and Pierre Robin sequence. In addition, another individual identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, 2 out of 10 individuals with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). Sources: Expert Review |
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| Clefting disorders v0.199 | B4GALT7 | Zornitza Stark Marked gene: B4GALT7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.199 | B4GALT7 | Zornitza Stark Gene: b4galt7 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.199 | B4GALT7 | Zornitza Stark Phenotypes for gene: B4GALT7 were changed from EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES; EDSSLA to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.198 | B4GALT7 | Zornitza Stark reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | DNAJC3 | Zornitza Stark Marked gene: DNAJC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | DNAJC3 | Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.169 | DNAJC3 | Zornitza Stark Phenotypes for gene: DNAJC3 were changed from Cerebellar ataxia, neuropathy with SNCV, hearing loss, diabetes mellitus to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.168 | DNAJC3 | Zornitza Stark Publications for gene: DNAJC3 were set to 25466870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.167 | DDHD1 | Zornitza Stark Marked gene: DDHD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.167 | DDHD1 | Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.167 | DDHD1 | Zornitza Stark Classified gene: DDHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.167 | DDHD1 | Zornitza Stark Gene: ddhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.104 | MLC1 | Zornitza Stark Marked gene: MLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.104 | MLC1 | Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.104 | MLC1 | Zornitza Stark Classified gene: MLC1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.104 | MLC1 | Zornitza Stark Gene: mlc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.103 | WDR26 | Zornitza Stark Marked gene: WDR26 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.103 | WDR26 | Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.103 | WDR26 | Zornitza Stark Classified gene: WDR26 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.103 | WDR26 | Zornitza Stark Gene: wdr26 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.102 | WWOX | Zornitza Stark Marked gene: WWOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.102 | WWOX | Zornitza Stark Gene: wwox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.102 | WWOX | Zornitza Stark Classified gene: WWOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.102 | WWOX | Zornitza Stark Gene: wwox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MLH1 | Zornitza Stark Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MLH1 | Zornitza Stark Gene: mlh1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MSH2 | Zornitza Stark Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MSH2 | Zornitza Stark Gene: msh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MSH6 | Zornitza Stark Marked gene: MSH6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | MSH6 | Zornitza Stark Gene: msh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.101 | KMT2B | Zornitza Stark Phenotypes for gene: KMT2B were changed from Dystonia 28, childhood-onset - #617284 to Dystonia 28, childhood-onset MIM#617284; Intellectual developmental disorder, autosomal dominant MIM#619934 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.100 | KMT2B | Zornitza Stark Publications for gene: KMT2B were set to 29697234 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.99 | KMT2B | Zornitza Stark Classified gene: KMT2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.99 | KMT2B | Zornitza Stark Gene: kmt2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Marked gene: KCNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Classified gene: KCNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.98 | KCNT1 | Zornitza Stark Gene: kcnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.97 | KCNB1 | Zornitza Stark Marked gene: KCNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.97 | KCNB1 | Zornitza Stark Gene: kcnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.97 | KCNB1 | Zornitza Stark Classified gene: KCNB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.97 | KCNB1 | Zornitza Stark Gene: kcnb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Marked gene: KAT6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Classified gene: KAT6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.96 | KAT6A | Zornitza Stark Gene: kat6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.95 | IRF2BPL | Zornitza Stark Marked gene: IRF2BPL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.95 | IRF2BPL | Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.95 | IRF2BPL | Zornitza Stark Classified gene: IRF2BPL as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.95 | IRF2BPL | Zornitza Stark Gene: irf2bpl has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.94 | IQSEC2 | Zornitza Stark Publications for gene: IQSEC2 were set to 33368194; 20473311; 23674175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.93 | IQSEC2 | Zornitza Stark Classified gene: IQSEC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.93 | IQSEC2 | Zornitza Stark Gene: iqsec2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.92 | IFIH1 | Zornitza Stark Marked gene: IFIH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.92 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.92 | IFIH1 | Zornitza Stark Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250 to Aicardi-Goutieres syndrome 7 MIM#615846 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.91 | IFIH1 | Zornitza Stark Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.91 | IFIH1 | Zornitza Stark Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.90 | HUWE1 | Zornitza Stark Marked gene: HUWE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.90 | HUWE1 | Zornitza Stark Gene: huwe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.90 | HUWE1 | Zornitza Stark Classified gene: HUWE1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.90 | HUWE1 | Zornitza Stark Gene: huwe1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.89 | HPRT1 | Zornitza Stark Marked gene: HPRT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.89 | HPRT1 | Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.89 | HPRT1 | Zornitza Stark Classified gene: HPRT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.89 | HPRT1 | Zornitza Stark Gene: hprt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.176 | DOCK11 | Zornitza Stark Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.968 | DOCK11 | Zornitza Stark Phenotypes for gene: DOCK11 were changed from autoimmune disease MONDO:0007179, DOCK11-related to Autoimmune disease with immune dysregulation, X-linked (ADMIDX), MIM#301109 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.40 | ZNF808 | Krithika Murali Marked gene: ZNF808 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.40 | ZNF808 | Krithika Murali Gene: znf808 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.40 | ZNF808 | Krithika Murali Classified gene: ZNF808 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.40 | ZNF808 | Krithika Murali Gene: znf808 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Monogenic Diabetes v0.39 | ZNF808 |
Krithika Murali gene: ZNF808 was added gene: ZNF808 was added to Monogenic Diabetes. Sources: Literature Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF808 were set to PMID: 37308312 Phenotypes for gene: ZNF808 were set to non-syndromic neonatal diabetes; MONDO:0016391 Review for gene: ZNF808 was set to GREEN Added comment: PMID: 37308312; Alqahtani, MA. et al. (2023) Clin Genet. doi: 10.1111/cge.14389. Three siblings in one consanguineous Saudi Arabian family with non-syndromic neonatal diabetes, all with a homozygous frameshift variant, NM_001321425.2:c.1448dupA, p.(Tyr483*), in ZNF808. (Same nucleotide and amino acid numbering as for the MANE SELECT transcript, NM_001039886.4). This variant has been entered as likely pathogenic in ClinVar by this group. This variant occurs in the last exon of the gene and is therefore not NMD-predicted. Instead it is predicted to cause a truncated protein. This paper shows a diagram with several other truncating variants in this exon, which were reported in the paper by De Franco, E. et al. (2021). (These patients also had low vitamin D levels, suggesting an association, and is consistent with other studies looking into loci that are associated with vitamin D). De Franco, E. et al. (2021) medRxiv 08.23.21262262. (Exeter, UK): Firstly, this group found a homozygous variant NM_001039886.3:c.637del, p.(Leu213*) that is predicted to cause a truncated protein, and also a homozygous CNV Chr19(GRCh37):g.53057128_53100968del (predicted to cause a deletion of exons 4 and 5) in two unrelated affected individuals. These patients had pancreatic agenesis, defined as insulin-dependent diabetes in the first 6 months of life (neonatal diabetes) and exocrine pancreatic insufficiency. Both were from consanguineous families. Parents were subsequently tested and shown to be heterozygous carriers. They then investigated 232 additional patients who had been diagnosed with neonatal diabetes before the age of 6 months and found ten more homozygous ZNF808 variants. Six were nonsense: p.(Gln194*), p.(Cys233*), p.(Tyr427*), p.(Lys458*), p.(Tyr528*) and p.(Arg727*), and three were frameshift variants: p.(Ala379Valfs*157), p.(Leu588Profs*118), p.(Asn770Ilefs*98) and one was a whole-gene deletion. All the frameshift and nonsense variants occurred in the last exon of the gene, which contains all 23 zinc finger domains; and therefore all of these variants are predicted to result in truncated proteins, and removal of some, if not all, those domains. This group also carried out functional studies using an in vitro model of pancreas development and showed an aberrant activation of many transposable elements (mostly MER11 elements) that would be normally be repressed during early pancreas development. Sources: Literature |
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| Mendeliome v1.967 | ZNF808 | Krithika Murali Marked gene: ZNF808 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.967 | ZNF808 | Krithika Murali Gene: znf808 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.967 | ZNF808 | Krithika Murali Classified gene: ZNF808 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.967 | ZNF808 | Krithika Murali Added comment: Comment on list classification: Green in Genomics England PanelApp neonatal diabetes panel with both of these papers cited in their review. Note that De Franco et al has not been peer-reviewed, however, the evidence provided is strong and from a reputable source. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.967 | ZNF808 | Krithika Murali Gene: znf808 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | GBA2 | Sangavi Sivagnanasundram reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301682, 23332917, 29524657; Phenotypes: Spastic paraplegia 46 MIM#614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | EXOSC3 | Sangavi Sivagnanasundram reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25144110, 22544365; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM#614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | ERCC6 | Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | ERCC6 |
Sangavi Sivagnanasundram changed review comment from: Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome. No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome.; to: No established gene-disease association Peripheral neuropathy with nerve conduction study confirmation is a minor criteria for suspected individuals with Cockayne Syndrome. No reports of neuropathy as a phenotype in a confirmed diagnosis of Cockayne Syndrome. |
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| Hereditary Neuropathy v0.166 | ERCC8 | Sangavi Sivagnanasundram reviewed gene: ERCC8: Rating: RED; Mode of pathogenicity: None; Publications: 4320535; Phenotypes: Cockayne syndrome, type A MIM#216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | ERCC6 | Sangavi Sivagnanasundram edited their review of gene: ERCC6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.966 | ZNF808 |
Hazel Phillimore gene: ZNF808 was added gene: ZNF808 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF808 were set to PMID: 37308312 Phenotypes for gene: ZNF808 were set to non-syndromic neonatal diabetes; MONDO:0016391 Review for gene: ZNF808 was set to GREEN Added comment: PMID: 37308312; Alqahtani, MA. et al. (2023) Clin Genet. doi: 10.1111/cge.14389. Three siblings in one consanguineous Saudi Arabian family with non-syndromic neonatal diabetes, all with a homozygous frameshift variant, NM_001321425.2:c.1448dupA, p.(Tyr483*), in ZNF808. (Same nucleotide and amino acid numbering as for the MANE SELECT transcript, NM_001039886.4). This variant has been entered as likely pathogenic in ClinVar by this group. This variant occurs in the last exon of the gene and is therefore not NMD-predicted. Instead it is predicted to cause a truncated protein. This paper shows a diagram with several other truncating variants in this exon, which were reported in the paper by De Franco, E. et al. (2021). (These patients also had low vitamin D levels, suggesting an association, and is consistent with other studies looking into loci that are associated with vitamin D). De Franco, E. et al. (2021) medRxiv 08.23.21262262. (Exeter, UK): Firstly, this group found a homozygous variant NM_001039886.3:c.637del, p.(Leu213*) that is predicted to cause a truncated protein, and also a homozygous CNV Chr19(GRCh37):g.53057128_53100968del (predicted to cause a deletion of exons 4 and 5) in two unrelated affected individuals. These patients had pancreatic agenesis, defined as insulin-dependent diabetes in the first 6 months of life (neonatal diabetes) and exocrine pancreatic insufficiency. Both were from consanguineous families. Parents were subsequently tested and shown to be heterozygous carriers. They then investigated 232 additional patients who had been diagnosed with neonatal diabetes before the age of 6 months and found ten more homozygous ZNF808 variants. Six were nonsense: p.(Gln194*), p.(Cys233*), p.(Tyr427*), p.(Lys458*), p.(Tyr528*) and p.(Arg727*), and three were frameshift variants: p.(Ala379Valfs*157), p.(Leu588Profs*118), p.(Asn770Ilefs*98) and one was a whole-gene deletion. All the frameshift and nonsense variants occurred in the last exon of the gene, which contains all 23 zinc finger domains; and therefore all of these variants are predicted to result in truncated proteins, and removal of some, if not all, those domains. This group also carried out functional studies using an in vitro model of pancreas development and showed an aberrant activation of many transposable elements (mostly MER11 elements) that would be normally be repressed during early pancreas development. Sources: Literature |
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| Skeletal Ciliopathies v1.9 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Ciliopathies v1.9 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Ciliopathies v1.8 | IFT74 | Krithika Murali Marked gene: IFT74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Ciliopathies v1.8 | IFT74 | Krithika Murali Gene: ift74 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.289 | IFT74 | Krithika Murali Marked gene: IFT74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.289 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.289 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.289 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.288 | IFT74 |
Naomi Baker gene: IFT74 was added gene: IFT74 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID: 37315079 Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants). Four of the five individuals had heart defects, including ASD, AVSD, patent ductus arteriosus, double outlet right ventricle, hypoplastic left heart, aortic atresia, and hypoplastic left ventricle. Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. Sources: Literature |
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| Skeletal dysplasia v0.240 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.240 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Ciliopathies v1.8 | IFT74 |
Naomi Baker gene: IFT74 was added gene: IFT74 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID: 37315079 Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related Review for gene: IFT74 was set to GREEN Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants). Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. Sources: Literature |
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| Skeletal dysplasia v0.239 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.239 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.238 | IFT74 | Krithika Murali Marked gene: IFT74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.238 | IFT74 | Krithika Murali Gene: ift74 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.20 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.20 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.205 | IFT74 | Krithika Murali Marked gene: IFT74 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.205 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.205 | IFT74 | Krithika Murali Classified gene: IFT74 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.205 | IFT74 | Krithika Murali Gene: ift74 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal Ciliopathies and Nephronophthisis v1.19 | IFT74 | Naomi Baker reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37315079; Phenotypes: Jeune syndrome (MONDO:0018770), IFT74-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.204 | IFT74 |
Naomi Baker gene: IFT74 was added gene: IFT74 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID: 37315079 Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related Review for gene: IFT74 was set to GREEN Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants). Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. Sources: Literature |
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| Skeletal dysplasia v0.238 | IFT74 |
Naomi Baker gene: IFT74 was added gene: IFT74 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to PMID:37315079 Phenotypes for gene: IFT74 were set to Jeune syndrome (MONDO:0018770), IFT74-related Review for gene: IFT74 was set to GREEN Added comment: Five individuals from four families reported. A homozygous exon 2 deletion was identified in two families, and splice variants were identified in the other two families (with minigene experiments demonstrating an effect on splicing of the non-canonical/deep intronic splice variants). Authors also characterised three mouse Ift74 alleles, with phenotypes ranging from a severe mid gestational lethal phenotype in the Ift74Tm1d out of frame exon 3 deletion allele, a post-natal lethal phenotype in the Ift74Tm1a exon 2 skip allele, to no detectable phenotype in Ift74Tm1b in frame exon 3 deletion allele. Sources: Literature |
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| Stroke v1.10 | ANO1 | Krithika Murali Marked gene: ANO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.10 | ANO1 | Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.10 | ANO1 | Krithika Murali Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.10 | ANO1 | Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.9 | ANO1 | Krithika Murali Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.9 | ANO1 | Krithika Murali Added comment: Comment on list classification: Conflicting functional studies, mechanistic uncertainty, high gnomAD frequency for some variants and incomplete penetrance in family pedigrees noted favouring Amber classification until further supportive evidence available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.9 | ANO1 | Krithika Murali Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.101 | DKC1 | Krithika Murali Classified gene: DKC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.101 | DKC1 | Krithika Murali Gene: dkc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | SART3 | Krithika Murali Marked gene: SART3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | SART3 | Krithika Murali Added comment: Comment when marking as ready: PMID: 37296101 - 3 individuals from 3 unrelated families reported with seizures. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | SART3 | Krithika Murali Gene: sart3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.966 | SART3 | Krithika Murali Classified gene: SART3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.966 | SART3 | Krithika Murali Gene: sart3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.275 | SART3 | Krithika Murali Classified gene: SART3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.275 | SART3 | Krithika Murali Gene: sart3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.274 | SART3 | Krithika Murali Marked gene: SART3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.274 | SART3 | Krithika Murali Gene: sart3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Differences of Sex Development v0.274 | SART3 |
Daniel Flanagan gene: SART3 was added gene: SART3 was added to Differences of Sex Development. Sources: Expert list Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to PMID: 37296101 Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related Review for gene: SART3 was set to GREEN Added comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Sources: Expert list |
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| Mendeliome v1.965 | SART3 |
Daniel Flanagan gene: SART3 was added gene: SART3 was added to Mendeliome. Sources: Expert list Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to PMID: 37296101 Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related Review for gene: SART3 was set to GREEN Added comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Sources: Expert list |
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| Combined Immunodeficiency v1.40 | ARPC5 | Elena Savva Classified gene: ARPC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.40 | ARPC5 | Elena Savva Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.40 | ARPC5 | Elena Savva Classified gene: ARPC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.40 | ARPC5 | Elena Savva Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.965 | ARPC5 | Elena Savva Classified gene: ARPC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.965 | ARPC5 | Elena Savva Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.964 | ARPC5 | Elena Savva Classified gene: ARPC5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.964 | ARPC5 | Elena Savva Gene: arpc5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | ARPC5 | Elena Savva Marked gene: ARPC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | ARPC5 | Elena Savva Gene: arpc5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | ARPC5 | Elena Savva Marked gene: ARPC5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | ARPC5 | Elena Savva Gene: arpc5 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | NUDCD2 | Krithika Murali Marked gene: NUDCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | NUDCD2 | Krithika Murali Gene: nudcd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | NUDCD2 | Seb Lunke Marked gene: NUDCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | NUDCD2 | Seb Lunke Gene: nudcd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | SART3 |
Daniel Flanagan gene: SART3 was added gene: SART3 was added to Genetic Epilepsy. Sources: Expert list Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to PMID: 37296101 Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related; 46,XY disorder of sex development (MONDO:0020040), SART3-related Review for gene: SART3 was set to GREEN Added comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Sources: Expert list |
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| Mendeliome v1.963 | NUDCD2 | Seb Lunke Classified gene: NUDCD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.963 | NUDCD2 | Seb Lunke Gene: nudcd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5256 | SART3 | Krithika Murali Classified gene: SART3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5256 | SART3 | Krithika Murali Gene: sart3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | RPH3A | Elena Savva Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1867 | RPH3A | Elena Savva Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | NUDCD2 |
Ee Ming Wong gene: NUDCD2 was added gene: NUDCD2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD2 were set to 37272762 Phenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Penetrance for gene: NUDCD2 were set to unknown Review for gene: NUDCD2 was set to AMBER gene: NUDCD2 was marked as current diagnostic Added comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant) - Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5255 | SART3 | Krithika Murali Marked gene: SART3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5255 | SART3 | Krithika Murali Gene: sart3 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1866 | RPH3A | Elena Savva Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1866 | RPH3A | Elena Savva Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.119 | NUDCD2 | Seb Lunke Marked gene: NUDCD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.119 | NUDCD2 | Seb Lunke Gene: nudcd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5255 | RPH3A | Elena Savva Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5255 | RPH3A | Elena Savva Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1866 | RPH3A | Elena Savva Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1866 | RPH3A | Elena Savva Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5255 | RPH3A | Elena Savva Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5255 | RPH3A | Elena Savva Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.119 | NUDCD2 | Seb Lunke Classified gene: NUDCD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.119 | NUDCD2 | Seb Lunke Gene: nudcd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1865 | RPH3A | Elena Savva Marked gene: RPH3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1865 | RPH3A | Elena Savva Gene: rph3a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5254 | RPH3A | Elena Savva Marked gene: RPH3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5254 | RPH3A | Elena Savva Gene: rph3a has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.497 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.118 | NUDCD2 |
Ee Ming Wong gene: NUDCD2 was added gene: NUDCD2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUDCD2 were set to 37272762 Phenotypes for gene: NUDCD2 were set to Multiple congenital anomalies (MONDO:0019042), NUDCD2-related Penetrance for gene: NUDCD2 were set to unknown Review for gene: NUDCD2 was set to AMBER gene: NUDCD2 was marked as current diagnostic Added comment: - Two unrelated probands, each biallelic for two variants in NUDCD2 (total 3x LoF variants, 1x missense variant) - Immunoblotting of proteins extracted from the primary fibroblasts of one proband with 2x LoF variants demonstrated markedly reduced NUDCD2 levels compared to healthy individuals Sources: Literature |
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| Callosome v0.497 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | DCAF13 | Seb Lunke Marked gene: DCAF13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | DCAF13 | Seb Lunke Gene: dcaf13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.238 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.238 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | DCAF13 | Seb Lunke Classified gene: DCAF13 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | DCAF13 | Seb Lunke Gene: dcaf13 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.496 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.962 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.118 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.118 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.64 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.64 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.118 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.117 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.117 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.237 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.237 | DRG1 | Krithika Murali Gene: drg1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.198 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.198 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.198 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.496 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.496 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.197 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.197 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.495 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.495 | RAB34 | Elena Savva Gene: rab34 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.9 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Multiple congenital anomalies, (MONDO:0019042), RAB34-related to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.63 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.63 | DRG1 | Krithika Murali Gene: drg1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.237 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Radial Ray Abnormalities v1.8 | RAB34 | Elena Savva Phenotypes for gene: RAB34 were changed from Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies to Multiple congenital anomalies, (MONDO:0019042), RAB34-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.7 | RAB34 | Elena Savva Marked gene: RAB34 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.7 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.63 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.63 | DRG1 | Krithika Murali Gene: drg1 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.7 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.7 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.209 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.208 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.208 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.6 | RAB34 | Elena Savva Classified gene: RAB34 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.6 | RAB34 | Elena Savva Gene: rab34 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.208 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.208 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.207 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Mendeliome v1.961 | ARPC5 |
Paul De Fazio gene: ARPC5 was added gene: ARPC5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131 Review for gene: ARPC5 was set to GREEN gene: ARPC5 was marked as current diagnostic Added comment: 4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable. PMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed. PMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect). Functional studies and a mouse model were supportive of the disease association. Sources: Literature |
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| Stroke v1.8 | ANO1 | Suliman Khan changed review comment from: Sources: Literature; to: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | RPH3A | Seb Lunke Marked gene: RPH3A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | RPH3A | Seb Lunke Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.8 | ANO1 |
Suliman Khan gene: ANO1 was added gene: ANO1 was added to Stroke. Sources: Literature Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ANO1 were set to PMID: 37253099 Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy; stroke; MONDO:0016820 Penetrance for gene: ANO1 were set to unknown Review for gene: ANO1 was set to AMBER Added comment: Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5254 | SART3 | Daniel Flanagan edited their review of gene: SART3: Changed phenotypes: Neurodevelopmental disorder (MONDO#0700092), SART3-related, 46,XY disorder of sex development (MONDO:0020040), SART3-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | RPH3A | Seb Lunke Classified gene: RPH3A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | RPH3A | Seb Lunke Gene: rph3a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.961 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.51 | MIR204 | Elena Savva Marked gene: MIR204 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.51 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure v1.63 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Growth failure. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Cone-rod Dystrophy v0.51 | MIR204 | Elena Savva Classified gene: MIR204 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.51 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.116 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.116 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.960 | MIR204 | Elena Savva Classified gene: MIR204 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.960 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | ARPC5 |
Paul De Fazio gene: ARPC5 was added gene: ARPC5 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Combined immunodeficiency, ARPC5-related MONDO:0015131 Review for gene: ARPC5 was set to GREEN gene: ARPC5 was marked as current diagnostic Added comment: 4 individuals from 3 families reported with homozygous LoF variants. All had recurrent and severe infections. Other developmental anomalies were present but seemed variable. PMID:37349293 reports 2 unrelated patients. Both had scoliosis. One had neurodevelopmental delay and brain atrophy. Patient 1 died at 15yo after a sudden episode of hemoptysis and hematochezia. Patient 2 died at 1yo because of progressive neurologic and respiratory disease; an autopsy was not performed. PMID:37382373 reports 2 patients from the same family. One had multiple congenital anomalies including a congenital heart defect (CHD) (patent foramen ovale), cleft palate, and hypoplastic corpus callosum. The sibling also had CHD (moderate pulmonary stenosis and atrial septal defect). Functional studies and a mouse model were supportive of the disease association. Sources: Literature |
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| Fetal anomalies v1.116 | DRG1 | Krithika Murali Publications for gene: DRG1 were set to PMID: 37179472 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.959 | MIR204 | Elena Savva Classified gene: MIR204 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.959 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.958 | MIR204 | Elena Savva Marked gene: MIR204 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.958 | MIR204 | Elena Savva Gene: mir204 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.115 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.115 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cone-rod Dystrophy v0.50 | MIR204 |
Chern Lim gene: MIR204 was added gene: MIR204 was added to Cone-rod Dystrophy. Sources: Literature Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285; 37321975 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Mode of pathogenicity for gene: MIR204 was set to Other Review for gene: MIR204 was set to AMBER gene: MIR204 was marked as current diagnostic Added comment: PMID: 26056285 - Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family. - Heterozygous n.37C>T segregates with the disease in all affected individuals. - Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. - Authors suggested gain of function is the likely disease mechanism. PMID: 37321975 - Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T. - Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. - Haplotype analysis excluded relatedness with the family reported in PMID: 26056285. - In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5254 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5254 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.18 | MIR204 | Elena Savva Marked gene: MIR204 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.18 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5253 | DRG1 | Krithika Murali Marked gene: DRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5253 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.114 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5253 | DRG1 | Krithika Murali Classified gene: DRG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5253 | DRG1 | Krithika Murali Gene: drg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.18 | MIR204 | Elena Savva Classified gene: MIR204 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.18 | MIR204 | Elena Savva Gene: mir204 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.34 | ANO1 | Seb Lunke changed review comment from: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established.; to: Comment on list classification: This paper indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.34 | ANO1 | Seb Lunke Marked gene: ANO1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.34 | ANO1 | Seb Lunke Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.34 | ANO1 | Seb Lunke Phenotypes for gene: ANO1 were changed from moyamoya; cerebral arteriopathy to Moyamoya disease, MONDO:0016820, ANO1 related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.33 | ANO1 | Seb Lunke Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.33 | ANO1 | Seb Lunke Added comment: Comment on list classification: This paper that indicates a predisposition, with both functional data and segregation data somewhat conflicting. Keep at amber for now as clear causality (consistent with author views) remains to be established. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v0.33 | ANO1 | Seb Lunke Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Radial Ray Abnormalities v1.5 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Radial Ray Abnormalities. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
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| Mendeliome v1.958 | DCAF13 |
Michelle Torres gene: DCAF13 was added gene: DCAF13 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DCAF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCAF13 were set to 36797467 Phenotypes for gene: DCAF13 were set to Neuromuscular disease (MONDO#0019056), DCAF13-related Review for gene: DCAF13 was set to RED Added comment: One consanguineous family, 4x individuals homozygous NM_015420.7(DCAF13)c.907 G > A; p.(Asp303Asn) (3x via WES and 1x via Sanger) with a neuromuscular disorder characterized by a waddling gait, limb deformities, muscular weakness and facial palsy. In silicos analysis of mutant DCAF13 suggests that the amino acid change is deleterious and affects a ß-hairpin turn, within a WD40 domain of the protein which may decrease protein stability. Functional studies were not performed. Previously, a heterozygous variant in DCAF13 with or without a heterozygous missense variant in CCN3, was suggested to cause inherited cortical myoclonic tremor with epilepsy. In addition, a heterozygous DCAF13 variant has been associated with autism spectrum disorder. Sources: Literature |
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| Mendeliome v1.958 | ERI1 | Elena Savva Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.958 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.958 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.958 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.957 | ERI1 |
Elena Savva gene: ERI1 was added gene: ERI1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5252 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5252 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5252 | SART3 |
Daniel Flanagan gene: SART3 was added gene: SART3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list Mode of inheritance for gene: SART3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SART3 were set to PMID: 37296101 Phenotypes for gene: SART3 were set to Neurodevelopmental disorder (MONDO#0700092), SART3-related, with 46,XY gonadal dysgenesis Review for gene: SART3 was set to GREEN Added comment: Nine individuals from six families presenting with intellectual disability, global developmental delay, a subset of brain anomalies, together with gonadal dysgenesis in 46,XY individuals. Additionally, two individuals had seizures and two had epileptiform activity reported on EEG. Human induced pluripotent stem cells carrying patient variants in SART3 show disruption to multiple signalling pathways, upregulation of spliceosome components and demonstrate aberrant gonadal and neuronal differentiation in vitro. Sources: Expert list |
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| Intellectual disability syndromic and non-syndromic v0.5252 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5252 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5251 | ERI1 | Elena Savva Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5251 | ERI1 | Elena Savva Gene: eri1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.204 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.204 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.204 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.204 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.203 | ERI1 | Elena Savva Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.203 | ERI1 | Elena Savva Gene: eri1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.956 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5251 | ERI1 |
Elena Savva gene: ERI1 was added gene: ERI1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Intellectual disability (MONDO#0001071), ERI1-related Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Skeletal Dysplasia_Fetal v0.203 | ERI1 |
Elena Savva gene: ERI1 was added gene: ERI1 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Callosome v0.495 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Callosome. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
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| Skeletal dysplasia v0.237 | ERI1 | Elena Savva Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Inflammatory bowel disease v0.100 | DKC1 | Krithika Murali reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32554502; Phenotypes: DKC1-related disorder - MONDO: 0100152; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Clefting disorders. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
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| Genetic Epilepsy v0.1865 | RPH3A |
Lucy Spencer gene: RPH3A was added gene: RPH3A was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPH3A were set to 37403762; 29441694 Phenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Review for gene: RPH3A was set to GREEN Added comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had). Patch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours Also previously 1 biallelic patient was reported, PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. Sources: Literature |
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| Mendeliome v1.956 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5250 | RPH3A |
Lucy Spencer gene: RPH3A was added gene: RPH3A was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPH3A were set to 37403762; 29441694 Phenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Review for gene: RPH3A was set to GREEN Added comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had). Patch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours Also previously 1 biallelic patient was reported, PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. Sources: Literature |
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| Fetal anomalies v1.114 | RAB34 |
Sarah Pantaleo gene: RAB34 was added gene: RAB34 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to PMID: 37384395 Phenotypes for gene: RAB34 were set to Clefting; corpus callosum; short bones; hypertelorism; polydactyly; cardiac defects; anorectal anomalies Penetrance for gene: RAB34 were set to Complete Review for gene: RAB34 was set to GREEN Added comment: Oral-facial-digital syndromes (OFDS) are a group of clinically and genetically heterogenous disorders characterised by defects in the development of the face and oral cavity along with digit anomalies. Pathogenic variants in >20 genes encoding ciliary proteins have been found to cause OFDS. Identified by WES biallelic missense variants in a novel disease-causing ciliary gene RAB34 in four individuals from three unrelated families (aided by GeneMatcher). Affected individuals presented a novel form of OFDS accompanied by cardiac, cerebral, skeletal (eg. Shortening of long bones), and anorectal defects. RAB34 encodes a member of the Lab GTPase superfamily and was recently identified as a key mediator of ciliary membrane formation. Protein products of pathogenic variants clustered near the RAB34 C-terminus exhibit a strong loss of function. Onset is prenatal (multiple developmental defects including short femur, polydactyly, heart malformations, kidney malformations, brain malformations), resulting in medical termination for three probands. In the fourth, the only one alive at birth, proband born at 39+5 weeks, normal growth parameters after pregnancy with polyhydramnios, corpus callosum agenesis and polydactyly. Respiratory distress at birth. All four probands presented typical features of ciliopathy disorders, overlapping with oral, facial and digital abnormalities. All with homozygous missense variants. All absent in gnomAD (in homozygous state). Sanger sequencing confirmed mode of inheritance. Sources: Literature |
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| Mendeliome v1.956 | RPH3A |
Lucy Spencer gene: RPH3A was added gene: RPH3A was added to Mendeliome. Sources: Literature Mode of inheritance for gene: RPH3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPH3A were set to 37403762; 29441694 Phenotypes for gene: RPH3A were set to Neurodevelopmental disorder (MONDO#0700092), RPH3A-related Review for gene: RPH3A was set to GREEN Added comment: PMID: 37403762- 6 patients with RPH3A variant. All 6 have ID, 4 have epilepsy, 2 with obesity, 1 with dysmorphic features. All 6 have missense variants, 3 shown to be de novo, the other 3 parents were not available for testing. I patient also had language and motor impairment, breathing issues and mixed hypo/hypertonia- he also had variants in CUL4B, PRKAG2, SCN4A, none of these genes cause seizures (which he had). Patch clamp studies on 2 of the missense showed they increased either the number of NMDA receptors on neuron membrane surface or increased their conductance. Study suggests that the variants interrupt the normal role of RPH3A activity at the synaptic NMDAR complex which is needed for the induction of synaptic plasticity and NMDAR-dependant behaviours Previously this gene was reported in PMID: 29441694- 1 girl with learning disabilities, tremors, ataxia, hyperglycemia and muscle fatigability. Chet for 2 RPH3A missense. Functional analysis showed strong and marginal impairment of protein binding for each variant. this is the only biallelic report currently. Sources: Literature |
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| Mendeliome v1.956 | MIR204 |
Chern Lim gene: MIR204 was added gene: MIR204 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285; 37321975 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Mode of pathogenicity for gene: MIR204 was set to Other Review for gene: MIR204 was set to GREEN gene: MIR204 was marked as current diagnostic Added comment: PMID: 26056285 - Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family. - Heterozygous n.37C>T segregates with the disease in all affected individuals. - Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. - Authors suggested gain of function is the likely disease mechanism. PMID: 37321975 - Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T. - Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. - Haplotype analysis excluded relatedness with the family reported in PMID: 26056285. - In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. Sources: Literature |
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| Optic Atrophy v1.17 | MIR204 |
Chern Lim gene: MIR204 was added gene: MIR204 was added to Optic Atrophy. Sources: Literature Mode of inheritance for gene: MIR204 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MIR204 were set to 26056285; 37321975 Phenotypes for gene: MIR204 were set to Retinal dystrophy and iris coloboma with or without cataract (MIM#616722) Mode of pathogenicity for gene: MIR204 was set to Other Review for gene: MIR204 was set to GREEN gene: MIR204 was marked as current diagnostic Added comment: PMID: 26056285 - Bilateral coloboma and rod-cone dystrophy with or without cataract in nine individuals of a five-generation family. - Heterozygous n.37C>T segregates with the disease in all affected individuals. - Functional analysis including transcriptome analysis showed this variant resulted in significant alterations of miR-204 targeting capabilities. In vivo injection, in medaka fish (Oryzias latipes), of the mutated miR-204 caused a phenotype consistent with that observed in the family. - Authors suggested gain of function is the likely disease mechanism. PMID: 37321975 - Four members of a three-generation family with early-onset chorioretinal dystrophy, heterozygous for n.37C>T. - Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. - Haplotype analysis excluded relatedness with the family reported in PMID: 26056285. - In silico analysis of the MIR204 n.37C>T variant reveals profound changes to its target mRNAs and suggests a gain-of-function mechanism of miR 204 variant. Sources: Literature |
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| Skeletal dysplasia v0.236 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.236 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.235 | ERI1 | Elena Savva Classified gene: ERI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.235 | ERI1 | Elena Savva Gene: eri1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.234 | ERI1 | Elena Savva Marked gene: ERI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.234 | ERI1 | Elena Savva Gene: eri1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.234 | ERI1 |
Elena Savva gene: ERI1 was added gene: ERI1 was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERI1 were set to 37352860 Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related Review for gene: ERI1 was set to GREEN Added comment: PMID: 37352860 - 8 individuals from 7 unrelated families - Patients with biallelic missense show a MORE severe spondyloepimetaphyseal dysplasia, syndactyly, brachydactyly/clinodactyly/camptodactyly - Patients with biallelic null/whole gene deletion had mild ID and digit anomalies including brachydactyly/clinodactyly/camptodactyly - Patient chet for a missense and PTC variant has a blended phenotype with short stature, syndactyly, brachydactyly/clinodactyly/camptodactyly, mild ID and failure to thrive - Missense variants were functionally shown to not be able to rescue 5.8S rRNA processing in KO HeLa cells - K/O mice had neonatal lethality with growth defects, brachydactyly. Skeletal-specific K/O had mild platyspondyly, had more in keeping with patients with null variants than missense More severe phenotype hypothesised due to "exonuclease-dead proteins may compete for the target RNA molecules with other exonucleases that have functional redundancy with ERI1, staying bound to those RNA molecules" Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5250 | DRG1 |
Dean Phelan gene: DRG1 was added gene: DRG1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DRG1 were set to PMID: 37179472 Phenotypes for gene: DRG1 were set to Neurodevelopmental disorder (MONDO:0700092), DRG1-related Review for gene: DRG1 was set to GREEN Added comment: PMID: 37179472 - Biallelic variants were identified in four affected individuals from three distinct families with neurodevelopmental disorder with global developmental delay, primary microcephaly, short stature and craniofacial anomalies. Functional studies show the variants result in a loss of function. Sources: Literature |
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| Cerebral vascular malformations v0.32 | ANO1 |
Suliman Khan gene: ANO1 was added gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO1 were set to PMID: 37253099 Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy Review for gene: ANO1 was set to GREEN Added comment: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Sources: Literature |
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| Hereditary Neuropathy v0.166 | ERCC6 | Sangavi Sivagnanasundram reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: None; Publications: 20301516; Phenotypes: Cockayne syndrome, type B MIM#133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Neuromuscular Superpanel v1.28 | Zornitza Stark Panel types changed to Superpanel; Victorian Clinical Genetics Services; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | GALC | Sangavi Sivagnanasundram reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301416, 21070211; Phenotypes: Krabbe Disease MIM#245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | FAM126A | Sangavi Sivagnanasundram reviewed gene: FAM126A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5 MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | ZFYVE26 | Sangavi Sivagnanasundram reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: None; Publications: 17661097, 19438933; Phenotypes: Spastic paraplegia 15 MIM#270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.220 | CD2AP | Bryony Thompson Phenotypes for gene: CD2AP were changed from focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.219 | CD2AP | Bryony Thompson Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.218 | CD2AP | Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.217 | CD2AP | Bryony Thompson Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.216 | CD2AP | Bryony Thompson Classified gene: CD2AP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.216 | CD2AP | Bryony Thompson Added comment: Comment on list classification: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuria v0.216 | CD2AP | Bryony Thompson Gene: cd2ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.956 | CD2AP | Bryony Thompson Phenotypes for gene: CD2AP were changed from Glomerulosclerosis, focal segmental, 3, OMIM #607832 to focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.955 | CD2AP | Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465; 10997929; 12764198; 15951437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.954 | CD2AP | Bryony Thompson Publications for gene: CD2AP were set to 30612599; 17713465 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.953 | CD2AP | Bryony Thompson Mode of inheritance for gene: CD2AP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.952 | CD2AP | Bryony Thompson Classified gene: CD2AP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.952 | CD2AP | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease assessment by ClinGen Glomerulopathy GCEP - classified 13/12/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.952 | CD2AP | Bryony Thompson Gene: cd2ap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v0.175 | CBLB | Zornitza Stark Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.951 | CBLB | Zornitza Stark Phenotypes for gene: CBLB were changed from Autoimmune disease, MONDO:0007179 to Autoimmune disease, multisystem, infantile-onset, 3, MIM# 620430 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.201 | INTS11 | Zornitza Stark Marked gene: INTS11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.201 | INTS11 | Zornitza Stark Gene: ints11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.201 | INTS11 | Zornitza Stark Classified gene: INTS11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.201 | INTS11 | Zornitza Stark Gene: ints11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Syndromic Retinopathy v0.200 | INTS11 |
Zornitza Stark gene: INTS11 was added gene: INTS11 was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711 Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 Review for gene: INTS11 was set to GREEN Added comment: PMID: 37054711 - 15 individuals from 10 unrelated families with bi-allelic variants in INTS11 with global developmental and language delay, intellectual disability, impaired motor development, and brain atrophy. Functional studies in Drosophila showed that dIntS11 (fly ortholog of INTS11) is essential and expressed in the central nervous systems in a subset of neurons and most glia in larval and adult stages. Retinal dystrophy reported. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.5250 | INTS11 | Zornitza Stark Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.950 | INTS11 | Zornitza Stark Phenotypes for gene: INTS11 were changed from intellectual disability, MONDO:0001071 to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM# 620428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5249 | SRRM2 | Zornitza Stark Publications for gene: SRRM2 were set to 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5248 | SRRM2 | Zornitza Stark Phenotypes for gene: SRRM2 were changed from neurodevelopmental disorder MONDO:0700092 SRRM2-related to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.949 | SRRM2 | Zornitza Stark Phenotypes for gene: SRRM2 were changed from Neurodevelopmental disorder MONDO:0700092 SRRM2-related to Intellectual developmental disorder, autosomal dominant 72, MIM# 620439 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Parkinson disease v0.240 | ATP7B | Sangavi Sivagnanasundram reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: 31426520, 33972609, 36553628, 16737839; Phenotypes: Wilson disease (MONDO:0010200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dystonia and Chorea v0.224 | NUP54 | Zornitza Stark Phenotypes for gene: NUP54 were changed from Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Dystonia 37, early-onset, with striatal lesions, MIM# 620427; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.948 | NUP54 | Zornitza Stark Phenotypes for gene: NUP54 were changed from Striatonigral degeneration, MONDO:0003122, NUP54-related; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia to Dystonia 37, early-onset, with striatal lesions, MIM# 620427; Early onset dystonia; progressive neurological deterioration; ataxia; dysarthria; dysphagia; hypotonia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2175 | MT-RNR1 |
Zornitza Stark changed review comment from: The following variants have been associated with aminoglycoside-induced deafness: m.1555A>G m.1005T>C m.1095T>C Alerts can be placed in medical records to avoid aminoglycoside administration. Sources: Expert Review; to: The following variants have been associated with aminoglycoside-induced deafness: m.1555A>G and m.1494C>T Alerts can be placed in medical records to avoid aminoglycoside administration. Sources: Expert Review |
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| Fetal anomalies v1.114 | BRWD1 | Zornitza Stark Phenotypes for gene: BRWD1 were changed from Situs inversus; primary ciliary dyskinesia like to Situs inversus; Ciliary dyskinesia, primary, 51, MIM# 620438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.947 | BRWD1 | Zornitza Stark Phenotypes for gene: BRWD1 were changed from Asthenoteratozoospermia, likely primary ciliary dyskinesia to Ciliary dyskinesia, primary, 51, MIM# 620438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.31 | BRWD1 | Zornitza Stark Phenotypes for gene: BRWD1 were changed from Primary ciliary dyskinesia, asthenoteratozoospermia to Ciliary dyskinesia, primary, 51, MIM# 620438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ciliary Dyskinesia v1.30 | BRWD1 | Zornitza Stark edited their review of gene: BRWD1: Changed phenotypes: Ciliary dyskinesia, primary, 51, MIM# 620438 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Marked gene: SPINK5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.15 | SPINK5 | Bryony Thompson Mode of pathogenicity for gene: SPINK5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.14 | SPINK5 | Bryony Thompson Classified gene: SPINK5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.14 | SPINK5 | Bryony Thompson Gene: spink5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Marked gene: KRT6C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Classified gene: KRT6C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Marked gene: KRT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Classified gene: KRT6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Marked gene: KRT6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Classified gene: KRT6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Marked gene: KRT17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Classified gene: KRT17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.9 | KRT17 | Bryony Thompson Mode of pathogenicity for gene: KRT17 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Marked gene: KRT16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Classified gene: KRT16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.7 | FLG2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.7 | FLG2 | Bryony Thompson commented on gene: FLG2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.7 | FLG2 | Bryony Thompson Classified gene: FLG2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.7 | FLG2 | Bryony Thompson Gene: flg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.6 | FLG2 | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | PMM2 |
Luisa Weiss gene: PMM2 was added gene: PMM2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PMM2 were set to 34788679 Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia MIM#212065 Review for gene: PMM2 was set to AMBER Added comment: One patient in a large CP cohort study was found to have biallelic mutations ins PMM2, but usually PMM2-CDG presents as a progressive multisystem disease with dysmorphism. Sources: Literature |
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| Cerebral Palsy v1.88 | PLP1 |
Luisa Weiss gene: PLP1 was added gene: PLP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PLP1 were set to 33528536; 25280894; 34816117 Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920 Review for gene: PLP1 was set to GREEN Added comment: Three large cohort studies with patients initially presenting as CP found three individuals with hemizygous mutations in PLP1. Note that individuals ins PMID 33528536 and 34816117 had different base pair exchanges at the same splice site location (NM_000533:c.191+1G>T and c.191+1G>A, respectively). The other mutation was a PLP1 gene duplication. One patient also had a affected brother. Sources: Literature |
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| Cerebral Palsy v1.88 | PLA2G6 |
Luisa Weiss gene: PLA2G6 was added gene: PLA2G6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 33528536; 34540776; 34788679 Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 Review for gene: PLA2G6 was set to GREEN Added comment: Three different individuals from three large CP cohort studies presenting with biallelic PLA2G6 mutations. Sources: Literature |
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| Cerebral Palsy v1.88 | PIGA |
Luisa Weiss gene: PIGA was added gene: PIGA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: PIGA were set to 33528536; 24706016 Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 Review for gene: PIGA was set to GREEN Added comment: One case in a large CP cohort study with maternally inherited PIGA mutation predicted to be likely pathogenic. In addition, Kato (PMID 24706016) reviewed 7 cases of boys with hemizygous PIGA mutations and encephalopathies, two of which had non-progressive hypotonic quadriplegia and one had spastic quadriplegia. They also showed intellectual disability and seizures. No CP diagnoses was given, but phenotypic overlap is present. Sources: Literature |
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| Cerebral Palsy v1.88 | PDHX |
Luisa Weiss gene: PDHX was added gene: PDHX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 33528536; 35076175; 34540776 Phenotypes for gene: PDHX were set to Lacticacidemia due to PDX1 deficiency MIM#245349 Review for gene: PDHX was set to GREEN Added comment: Three individual patients from three large CP cohort studies with homozygous PDHX mutations. Note that in one case (PMID 35076175) the patient had both homozygous PDHX and homozygous ACADM mutations, but his phenotype was more consistent with PDHX mutations. Sources: Literature |
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| Cerebral Palsy v1.88 | PDHA1 |
Luisa Weiss gene: PDHA1 was added gene: PDHA1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 33528536; 10486093 Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency MIM#312170 Review for gene: PDHA1 was set to GREEN Added comment: 2 patients in 1 large CP cohort presented with heterozygous likely pathogenic missense mutations, one of them confirmed de novo. In an older case report (PMID:10486093) two unrelated girls were presented with cerebral palsy which were found to harbor heterozygous PDHA mutations. In one case, parental DNA wasn't analyzed, in the other case the mutation wasn't found in the healthy mother and the healthy brother of the patient. Both girls showed skewed X-Inactivation. Note that in X-linked PDH deficiency it has been shown that a high proportion of heterozygous females manifest severe symptoms. Sources: Literature |
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| Cerebral Palsy v1.88 | PANK2 | Luisa Weiss reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33098801, 34114234, 25131622; Phenotypes: HARP syndrome MIM#607236, Neurodegeneration with brain iron accumulation MIM#234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | PAK3 | Luisa Weiss reviewed gene: PAK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31444167, 30542205, 25666757; Phenotypes: Intellectual developmental disorder, X-linked MIM#300558; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | PAFAH1B1 |
Luisa Weiss gene: PAFAH1B1 was added gene: PAFAH1B1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PAFAH1B1 were set to 19667223 Phenotypes for gene: PAFAH1B1 were set to Lissencephaly MIM#607432; Subcortical laminar heterotopia MIM#607432 Review for gene: PAFAH1B1 was set to GREEN Added comment: Saillour reviewed 63 patients with posteriorly predominant lissencephaly, 40 of which were proven to have a LIS1 mutation. None of them were officially diagnosed with cerebral palsy, however, 24 of those 40 patients presented with "severe motor impairment including axial hypotonia and spastic quadriparesis". A high percentage of patients also showed severe developmental delay and epilepsy. Sources: Literature |
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| Cerebral Palsy v1.88 | NFIX |
Luisa Weiss gene: NFIX was added gene: NFIX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NFIX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIX were set to 34788679 Phenotypes for gene: NFIX were set to Malan syndrome MIM#614753; Marshall-Smith syndrome MIM#602535 Review for gene: NFIX was set to AMBER Added comment: Two patients in a large CP cohort study, one with a nonsense mutation without information on inheritance and one with a de novo missense mutation predicted to be likely pathogenic. Normally, NFIX mutation cause accelerated bone maturation with overgrwowth, dysmorphism and mental retardation, so there is a low possibility for phenotypic overlap. Sources: Literature |
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| Cerebral Palsy v1.88 | NAA10 |
Luisa Weiss gene: NAA10 was added gene: NAA10 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: NAA10 were set to 33528536; 30542205 Phenotypes for gene: NAA10 were set to Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855 Review for gene: NAA10 was set to GREEN Added comment: Four individual cases in two large CP cohort studies. Note that in one publication (33528536) 2/3 mutations occurred de novo. Sources: Literature |
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| Cerebral Palsy v1.88 | MT-TL1 |
Luisa Weiss gene: MT-TL1 was added gene: MT-TL1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL Publications for gene: MT-TL1 were set to 34531397; 34077496; 25280894 Phenotypes for gene: MT-TL1 were set to MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000 Review for gene: MT-TL1 was set to GREEN Added comment: Three individual cases in three different large CP cohort publications. In one case, heteroplasmy was 8% in another it was 58% with a low level detectable also in the mother. The third does not state the heteroplasmy level. Note very high intra- and interfamilial variability, partly due to heteroplasmy level in different tissues. Sources: Literature |
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| Mendeliome v1.946 | UBE3B | Achchuthan Shanmugasundram reviewed gene: UBE3B: Rating: AMBER; Mode of pathogenicity: None; Publications: 23200864, 23687348, 37010288; Phenotypes: Kaufman oculocerebrofacial syndrome, OMIM:244450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | SMARCB1 | Achchuthan Shanmugasundram reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: Coffin-Siris syndrome 3, OMIM:614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | NOTCH2 | Achchuthan Shanmugasundram reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 9188663, 30329210, 37010288; Phenotypes: Hajdu-Cheney syndrome, OMIM:102500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | AUTS2 | Achchuthan Shanmugasundram reviewed gene: AUTS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31788251, 37010288; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | ARID1A | Achchuthan Shanmugasundram reviewed gene: ARID1A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | SPINK5 |
Sangavi Sivagnanasundram gene: SPINK5 was added gene: SPINK5 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINK5 were set to 19683336 Phenotypes for gene: SPINK5 were set to Netherton syndrome (MIM#256500) Mode of pathogenicity for gene: SPINK5 was set to Other Review for gene: SPINK5 was set to GREEN Added comment: Characterized by congenital erythroderma, a specific hair-shaft abnormality, and atopic manifestations with high IgE levels. Typically caused by either homozygous or compound heterozygous mutations. PMID: 19683336 9 unrelated children with Comel-Netherton syndrome with homozygous mutations in SPINK5. Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT17 |
Sangavi Sivagnanasundram gene: KRT17 was added gene: KRT17 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT17 were set to 11886499; 21326300 Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210) Review for gene: KRT17 was set to GREEN Added comment: Also reported as Jackson-Lawler type syndrome PMID: 11886499 4 unrelated individuals with pachyonychia congenita like phenotype PMID: 21326300 Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT16 |
Sangavi Sivagnanasundram gene: KRT16 was added gene: KRT16 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 16250206 Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200) Mode of pathogenicity for gene: KRT16 was set to Other Review for gene: KRT16 was set to GREEN Added comment: PMID: 16250206 Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing. >5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16. Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT6C |
Sangavi Sivagnanasundram gene: KRT6C was added gene: KRT6C was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6C were set to 31823354; 23662636 Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735) Mode of pathogenicity for gene: KRT6C was set to Other Review for gene: KRT6C was set to GREEN Added comment: Phenotype overlap with Pachyonychia congenita (PC) PMID: 31823354 Approx 23 unrelated families with mutation in KRT6C with phenotypes consistent with pachyonchia congenita PMID: 23662636 In vitro assay in HaCaT cells showed the overexpression of mutant keratin 6c showed a collapse of the keratin filament network suggestive of dominant negative effect pathogenicity. Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT6B |
Sangavi Sivagnanasundram gene: KRT6B was added gene: KRT6B was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6B were set to 24611874; 21326300 Phenotypes for gene: KRT6B were set to Pachyonychia congenita 4 MIM#615728 Mode of pathogenicity for gene: KRT6B was set to Other Review for gene: KRT6B was set to GREEN Added comment: Previously known as Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2 Mutants are found to have a dominant-negative most of pathogenicity. PMID: 24611874 Multiple families with either plantar keratoderma or palmopantar keratoderma phenotypes with a mutation in KRT6B PMID: 21326300 The most common reported mutation K6b p.Glu472Lys in families with KRT6B-related Pachyonychia congenita Sources: Other |
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| Epidermolysis bullosa v1.5 | KRT6A |
Sangavi Sivagnanasundram gene: KRT6A was added gene: KRT6A was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6A were set to 32017015; 21326300 Phenotypes for gene: KRT6A were set to Pachyonychia congenita 3 MIM#615726 Mode of pathogenicity for gene: KRT6A was set to Other Review for gene: KRT6A was set to GREEN Added comment: Well established gene-disease association. Multiple families reported with hyperkeratotic disorders with skin fragility like symptoms. p.Asn172del is the most common mutation identified in families with Pachyonychia congenita Sources: Other |
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| Mendeliome v1.946 | ZC4H2 |
Achchuthan Shanmugasundram changed review comment from: There are ten unrelated patients reported with cleft palate. Hence, this gene should be added with green rating to 'clefting disorders' panel. PMID:31206972 - Of 42 families identified with variants in de novo and inherited heterozygous variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with monoallelic sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM.; to: There are ten unrelated patients reported with cleft palate. Hence, this gene should be added with green rating to 'clefting disorders' panel. PMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database) DECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. Cleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. |
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| Mendeliome v1.946 | ZC4H2 | Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | ZC4H2 | Achchuthan Shanmugasundram edited their review of gene: ZC4H2: Changed publications: 31206972, 37010288; Changed phenotypes: Wieacker-Wolff syndrome, female-restricted, OMIM:301041 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | ZC4H2 | Achchuthan Shanmugasundram reviewed gene: ZC4H2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Classified gene: GCSH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.876 | GCSH |
Zornitza Stark gene: GCSH was added gene: GCSH was added to Mitochondrial disease. Sources: Expert Review Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515 Phenotypes for gene: GCSH were set to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Review for gene: GCSH was set to GREEN Added comment: 7 unrelated families reported. Phenotype ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems. Sources: Expert Review |
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| Intellectual disability syndromic and non-syndromic v0.5247 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.495 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy, MIM#605899 to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1865 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.946 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.189 | SCA2 | Bryony Thompson Marked STR: SCA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.189 | SCA2 | Bryony Thompson Str: sca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.189 | SCA2 | Bryony Thompson Classified STR: SCA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.189 | SCA2 | Bryony Thompson Str: sca2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.188 | SCA2 |
Bryony Thompson STR: SCA2 was added STR: SCA2 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for STR: SCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: SCA2 were set to 20301452 Phenotypes for STR: SCA2 were set to Spinocerebellar ataxia 2 MIM#183090 Review for STR: SCA2 was set to GREEN STR: SCA2 was marked as clinically relevant Added comment: NM_002973​.3:c.496_498CAG[X] Toxic protein aggregation is mechanism of disease Benign: ≤31 repeats (homozygous 31/31 repeats reported for recessive SCA2) Uncertain: 32 repeats ALS risk allele: 30-32 repeats Reduced penetrance: 33-34 repeats, may not develop symptoms or only very late in life Full penetrance: ≥35 repeats Interruption of a CAG expanded allele by a CAA repeat does not mitigate the pathogenicity of the repeat size, but may enhance the meiotic stability of the repeat Sources: Literature |
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| Motor Neurone Disease v0.187 | LGALSL | Bryony Thompson Marked gene: LGALSL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.187 | LGALSL | Bryony Thompson Gene: lgalsl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.187 | LGALSL | Bryony Thompson Classified gene: LGALSL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.187 | LGALSL | Bryony Thompson Gene: lgalsl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.186 | LGALSL |
Bryony Thompson gene: LGALSL was added gene: LGALSL was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: LGALSL was set to Unknown Publications for gene: LGALSL were set to 30940688 Phenotypes for gene: LGALSL were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: LGALSL was set to AMBER Added comment: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 14/02/2023. Significant enrichment in a cohort of 3,239 ALS cases compared to 11,808 controls - OR = 14.63; P = 2.29e-6. Sources: ClinGen |
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| Motor Neurone Disease v0.185 | HNRNPA2B1 | Bryony Thompson Marked gene: HNRNPA2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.185 | HNRNPA2B1 | Bryony Thompson Gene: hnrnpa2b1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.185 | HNRNPA2B1 |
Bryony Thompson gene: HNRNPA2B1 was added gene: HNRNPA2B1 was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: HNRNPA2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HNRNPA2B1 were set to 25299611 Phenotypes for gene: HNRNPA2B1 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: HNRNPA2B1 was set to RED Added comment: Limited gene-disease validity assessment by ALS spectrum disorder GCEP - 15/12/2021. Only one variant in a single ALS proband scored. Sources: ClinGen |
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| Motor Neurone Disease v0.184 | GRN | Bryony Thompson Marked gene: GRN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.184 | GRN | Bryony Thompson Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.184 | GRN | Bryony Thompson Classified gene: GRN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.184 | GRN | Bryony Thompson Gene: grn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.183 | GRN |
Bryony Thompson gene: GRN was added gene: GRN was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GRN were set to 18184915; 23596077 Phenotypes for gene: GRN were set to frontotemporal dementia and/or amyotrophic lateral sclerosis MONDO:0030923 Review for gene: GRN was set to GREEN gene: GRN was marked as current diagnostic Added comment: Well-established FTD gene. ALS has been reported in association with some GRN variants, but appears to be a rare occurrence. Sources: ClinGen |
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| Motor Neurone Disease v0.182 | GLT8D1 | Bryony Thompson Marked gene: GLT8D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.182 | GLT8D1 | Bryony Thompson Gene: glt8d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.182 | GLT8D1 | Bryony Thompson Classified gene: GLT8D1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.182 | GLT8D1 | Bryony Thompson Gene: glt8d1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.181 | FIG4 | Bryony Thompson Marked gene: FIG4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.181 | FIG4 | Bryony Thompson Gene: fig4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.181 | FIG4 | Bryony Thompson Phenotypes for gene: FIG4 were changed from to Amyotrophic Lateral Sclerosis Type 11 (MONDO: 0012945; MIM#612577) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.180 | FIG4 | Bryony Thompson Mode of inheritance for gene: FIG4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.179 | FIG4 | Bryony Thompson Classified gene: FIG4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.179 | FIG4 | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 09/08/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.179 | FIG4 | Bryony Thompson Gene: fig4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Classified gene: EWSR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.178 | EWSR1 | Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.945 | EWSR1 | Bryony Thompson Classified gene: EWSR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.945 | EWSR1 | Bryony Thompson Added comment: Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.945 | EWSR1 | Bryony Thompson Gene: ewsr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.177 | ERBB4 | Bryony Thompson Classified gene: ERBB4 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.177 | ERBB4 | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorder GCEP - 30/09/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.177 | ERBB4 | Bryony Thompson Gene: erbb4 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Classified gene: DAO as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Added comment: Comment on list classification: Refuted gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Gene: dao has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Classified gene: DAO as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Added comment: Comment on list classification: Refuted gene-disease vailidity assessment by ClinGen ALS spectrum disorders GCEP - 21/04/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.176 | DAO | Bryony Thompson Gene: dao has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.160 | CCNF | Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.160 | CCNF | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early-onset Dementia v0.160 | CCNF | Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.175 | CCNF | Bryony Thompson Classified gene: CCNF as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.175 | CCNF | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 05/04/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.175 | CCNF | Bryony Thompson Gene: ccnf has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.174 | ARPP21 |
Bryony Thompson gene: ARPP21 was added gene: ARPP21 was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: ARPP21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARPP21 were set to 30811981; 31653410; 35525134 Phenotypes for gene: ARPP21 were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: ARPP21 was set to RED Added comment: Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 10/01/2023 Sources: ClinGen |
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| Motor Neurone Disease v0.173 | ANG | Bryony Thompson Classified gene: ANG as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.173 | ANG | Bryony Thompson Gene: ang has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.172 | ANG | Bryony Thompson Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.172 | ANG | Bryony Thompson Classified gene: ANG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.172 | ANG | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.172 | ANG | Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.171 | ANG | Bryony Thompson Classified gene: ANG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.171 | ANG | Bryony Thompson Added comment: Comment on list classification: Limited gene-disease validity classification by ClinGen ALS GCEP - 08/02/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.171 | ANG | Bryony Thompson Gene: ang has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Marked gene: SPTLC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Classified gene: SPTLC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.170 | SPTLC1 | Bryony Thompson Gene: sptlc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.169 | SPTLC1 |
Bryony Thompson gene: SPTLC1 was added gene: SPTLC1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTLC1 were set to 34059824; 35900868; 34459874 Phenotypes for gene: SPTLC1 were set to juvenile amyotrophic lateral sclerosis MONDO:0017593 Mode of pathogenicity for gene: SPTLC1 was set to Other Review for gene: SPTLC1 was set to GREEN Added comment: At least 10 unrelated probands/families reported with typically juvenile-onset ALS with missense or in-frame indels. Supporting in vitro functional assays demonstrate the mechanism of disease results in unregulated SPT activity and elevated levels of canonical SPT products, in contrast to the mechanism of disease for SPTLC1 variants that cause hereditary sensory and autonomic neuropathy (shift SPT amino acid usage from serine to alanine, resulting in elevated levels of deoxysphingolipids). Sources: Literature |
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| Mendeliome v1.944 | STAG2 | Achchuthan Shanmugasundram reviewed gene: STAG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28296084, 29263825, 30158690, 31334757, 33014403, 37010288; Phenotypes: Holoprosencephaly 13, X-linked, OMIM:301043, Mullegama-Klein-Martinez syndrome, OMIM:301022; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.944 | SMARCA4 | Achchuthan Shanmugasundram reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25168959, 37010288; Phenotypes: Coffin-Siris syndrome 4, OMIM:614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.168 | SMN1 | Bryony Thompson Marked gene: SMN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.168 | SMN1 | Bryony Thompson Gene: smn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.168 | SMN1 | Bryony Thompson Classified gene: SMN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.168 | SMN1 | Bryony Thompson Gene: smn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.166 | SMN1 |
Bryony Thompson gene: SMN1 was added gene: SMN1 was added to Motor Neurone Disease. Sources: Literature Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMN1 were set to 20301623 Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, MIM# 253300 Added comment: Differential diagnosis for ALS Sources: Literature |
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| Mendeliome v1.944 | XYLT1 | Elena Savva Mode of inheritance for gene: XYLT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.943 | POGZ |
Achchuthan Shanmugasundram changed review comment from: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be added with amber rating in 'Clefting disorders panel'. PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288). The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome.; to: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene. Hence, this gene should only be added with amber rating in 'Clefting disorders' panel. PMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula. PMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula. DECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288). The OMIM entry for White-Sutton syndrome (MIM #616364) does not currently include cleft lip/ palate as one of the clinical manifestations of this syndrome. |
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| Mendeliome v1.943 | POGZ | Achchuthan Shanmugasundram reviewed gene: POGZ: Rating: AMBER; Mode of pathogenicity: None; Publications: 26739615, 31782611, 37010288; Phenotypes: White-Sutton syndrome, OMIM:616364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | TUBB2A |
Luisa Weiss gene: TUBB2A was added gene: TUBB2A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TUBB2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB2A were set to 33528536; 24702957 Phenotypes for gene: TUBB2A were set to Cortical dysplasia, complex, with other brain malformations MIM# 615763 Review for gene: TUBB2A was set to GREEN Added comment: 4 individual cases in one large CP cohort study, all of them with de novo missense mutations, Note that 2/4 mutations are p.A248V, which has also been described in a nonverbal and nonambulatory girl with generalized hypotonia and mild brain malformations (dysmorphic corpus callosum). Cushion et al. (PMID 24702957) also did functional work on this variant showing is had an impaired ability to coassemble with endogenous alpha-tubulin subunits and integrate into microtubule polymers. Sources: Literature |
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| Cerebral Palsy v1.88 | TUBB3 |
Luisa Weiss gene: TUBB3 was added gene: TUBB3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: TUBB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TUBB3 were set to 33528536 Phenotypes for gene: TUBB3 were set to Cortical dysplasia, complex, with other brain malformations MIM#614039; Fibrosis of extraocular muscles, congenital MIM#600638 Review for gene: TUBB3 was set to GREEN Added comment: 4 individual cases in one large CP cohort study, all with de novo missense mutations predicted to be pathogenic. Sources: Literature |
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| Neurodegeneration with brain iron accumulation v0.22 | ATP7B |
Shekeeb Mohammad gene: ATP7B was added gene: ATP7B was added to Neuroferritinopathies. Sources: Literature,Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 27543917; 28376267 Phenotypes for gene: ATP7B were set to dystonia; parkinsonism; psychosis; liver failure; pancreatitis; renal tubular acidosis; dysarthria; dysphagia gene: ATP7B was marked as current diagnostic |
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| Neurodegeneration with brain iron accumulation v0.22 | AP4M1 |
Shekeeb Mohammad gene: AP4M1 was added gene: AP4M1 was added to Neuroferritinopathies. Sources: Literature,Expert list Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP4M1 were set to 29473051 Phenotypes for gene: AP4M1 were set to progressive spastic tetraparesis; microcephaly; intellectual disabiliy; growth retardation; epilepsy; peripheral neuropathy; brain iron deposition Review for gene: AP4M1 was set to GREEN gene: AP4M1 was marked as current diagnostic Added comment: Sources: Literature, Expert list |
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| Neurodegeneration with brain iron accumulation v0.22 | AP1S2 |
Shekeeb Mohammad gene: AP1S2 was added gene: AP1S2 was added to Neuroferritinopathies. Sources: Expert list,Literature Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: AP1S2 were set to 23756445 Phenotypes for gene: AP1S2 were set to spasticity; hypotonia; intellectual disability; posterior fossa malformation; brain iron deposition Penetrance for gene: AP1S2 were set to Complete Review for gene: AP1S2 was set to GREEN Added comment: Sources: Expert list, Literature |
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| Facial papules v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.49 |
Bryony Thompson Panel status changed from internal to public Panel types changed to Royal Melbourne Hospital; Rare Disease |
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| Mendeliome v1.943 | PGAP3 | Achchuthan Shanmugasundram reviewed gene: PGAP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28390064, 37010288; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 4, OMIM:615716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.943 | KMT2A | Achchuthan Shanmugasundram reviewed gene: KMT2A: Rating: AMBER; Mode of pathogenicity: None; Publications: 25929198, 30305169, 31710778, 37010288; Phenotypes: Wiedemann-Steiner syndrome, OMIM:605130; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | KAT6B | Achchuthan Shanmugasundram reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32424177, 37010288; Phenotypes: Genitopatellar syndrome, OMIM:606170, SBBYSS syndrome, OMIM:603736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.943 | GLI2 | Achchuthan Shanmugasundram reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24744436, 37010288; Phenotypes: Culler-Jones syndrome, OMIM:615849, Holoprosencephaly 9, OMIM:610829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | SMAD4 | Bryony Thompson Classified gene: SMAD4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | SMAD4 | Bryony Thompson Added comment: Comment on list classification: Disputed classification by ClinGen PH GCEP 21/11/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.18 | SMAD4 | Bryony Thompson Gene: smad4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.17 | SMAD1 | Bryony Thompson Classified gene: SMAD1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.17 | SMAD1 | Bryony Thompson Added comment: Comment on list classification: Disputed gene curation by ClinGen PH VCEP 21/11/2022 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.17 | SMAD1 | Bryony Thompson Gene: smad1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.16 | GGCX | Bryony Thompson Marked gene: GGCX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.16 | GGCX | Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.16 | GGCX | Bryony Thompson Classified gene: GGCX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.16 | GGCX | Bryony Thompson Gene: ggcx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Pulmonary Arterial Hypertension v1.15 | GGCX |
Bryony Thompson gene: GGCX was added gene: GGCX was added to Pulmonary Arterial Hypertension. Sources: ClinGen Mode of inheritance for gene: GGCX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GGCX were set to 31727138 Phenotypes for gene: GGCX were set to pulmonary arterial hypertension MONDO:0015924 Review for gene: GGCX was set to AMBER Added comment: Moderate gene-disease validity classification by the pulmonary hypertension GCEP (4/11/2022). All the genetic evidence is based on one study conducting a gene-based association analysis using 812 European IPAH cases and 12,771 European controls. There were 18 probands with GGCX variants identified. Sources: ClinGen |
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| Facial papules v0.48 | ANTXR2 | Bryony Thompson Marked gene: ANTXR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.48 | ANTXR2 | Bryony Thompson Gene: antxr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.48 | ANTXR2 | Bryony Thompson Classified gene: ANTXR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.48 | ANTXR2 | Bryony Thompson Gene: antxr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.47 | ANTXR2 |
Bryony Thompson gene: ANTXR2 was added gene: ANTXR2 was added to Facial papules. Sources: Literature Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANTXR2 were set to 20301698 Phenotypes for gene: ANTXR2 were set to hyaline fibromatosis syndrome MONDO:0009229 Review for gene: ANTXR2 was set to GREEN gene: ANTXR2 was marked as current diagnostic Added comment: Coarse facies and pearly papules on the face are common features of the condition. Sources: Literature |
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| Facial papules v0.46 | IDS | Bryony Thompson Marked gene: IDS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Gene: ids has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Classified gene: IDS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.46 | IDS | Bryony Thompson Gene: ids has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.45 | IDS |
Bryony Thompson gene: IDS was added gene: IDS was added to Facial papules. Sources: Expert list Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: IDS were set to 20301451 Phenotypes for gene: IDS were set to Mucopolysaccharidosis type 2 MONDO:0010674 Review for gene: IDS was set to GREEN gene: IDS was marked as current diagnostic Added comment: Coarse facies is a feature of mucopolysaccharidosis type 2 Sources: Expert list |
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| Facial papules v0.44 | IDUA | Bryony Thompson Marked gene: IDUA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Gene: idua has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Classified gene: IDUA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.44 | IDUA | Bryony Thompson Gene: idua has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.43 | IDUA |
Bryony Thompson gene: IDUA was added gene: IDUA was added to Facial papules. Sources: Expert list Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IDUA were set to 20301341 Phenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1 MONDO:0001586 Review for gene: IDUA was set to GREEN gene: IDUA was marked as current diagnostic Added comment: Coarse facies is prevalent in severe mucopolysaccharidosis and can be present to a lesser degree in attenuated mucopolysaccharidosis. Sources: Expert list |
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| Cerebral Palsy v1.88 | MSL3 |
Luisa Weiss gene: MSL3 was added gene: MSL3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MSL3 were set to 33173220 Phenotypes for gene: MSL3 were set to Basilicata-Akhtar syndrome MIM#301032 Review for gene: MSL3 was set to GREEN Added comment: Brunet et al. defined the clinical phenotype of 25 patients with MSL3 mutations, three of which had initially been diagnosed as having cerebral palsy. Sources: Literature |
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| Cerebral Palsy v1.88 | MOCS2 |
Luisa Weiss gene: MOCS2 was added gene: MOCS2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS2 were set to 33528536; 22759696 Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B MIM#252160 Review for gene: MOCS2 was set to GREEN Added comment: Two patients in a large CP cohort presenting with cerebral palsy. In addition one case report with a patient initially diagnosed as having CP and later found to have biallelic MOCS2 mutations. Sources: Literature |
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| Cerebral Palsy v1.88 | MOCS1 | Luisa Weiss reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34788679, 27289259; Phenotypes: Molybdenum cofactor deficiency A MIM#252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MOCS1 | Luisa Weiss Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MEF2C |
Luisa Weiss gene: MEF2C was added gene: MEF2C was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MEF2C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEF2C were set to 20412115; 25817843; 33528536 Phenotypes for gene: MEF2C were set to Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language MIM#613443 Review for gene: MEF2C was set to GREEN Added comment: Two patients in two large CP cohort studies with MEF2C mutations/deletions. In addition, one case report of two patients with MEF2C mutation with one of them diagnosed as having CP. Sources: Literature |
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| Cerebral Palsy v1.88 | MOCS1 |
Luisa Weiss gene: MOCS1 was added gene: MOCS1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOCS1 were set to 22759696; 34788679 Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A MIM#252150 Review for gene: MOCS1 was set to AMBER Added comment: One patient described in a case report diagnosed with cerebral palsy and later re-diagnosed as having molybdenum cofactor deficiency. In addition one more patient in a large CP cohort with biallelic MOCS1 mutation. Sources: Literature |
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| Cerebral Palsy v1.88 | MCOLN1 |
Luisa Weiss gene: MCOLN1 was added gene: MCOLN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 12182165; 21763169 Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV MIM#252650 Review for gene: MCOLN1 was set to GREEN Added comment: PMID 12182165 presents a case study of 28 patients with Mucolipidosis Type IV. A significant clinical overlap with CP-like encephalopathy is discussed and some of the patients are reported to present with a 'pure non-progressive neurologic deficit'. Other Mucolipidosis Type IV overviews (PMID 21763169) also discuss the clinical similarities and the phenotypic overlap between MLIV and CP. Sources: Literature |
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| Facial papules v0.42 | MLH1 | Bryony Thompson Phenotypes for gene: MLH1 were changed from Lynch syndrome MONDO:0005835 to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.41 | MSH2 | Bryony Thompson Marked gene: MSH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.41 | MSH2 | Bryony Thompson Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.41 | MSH2 | Bryony Thompson Classified gene: MSH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.41 | MSH2 | Bryony Thompson Gene: msh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.40 | MSH2 |
Bryony Thompson gene: MSH2 was added gene: MSH2 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MSH2 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524 Phenotypes for gene: MSH2 were set to Lynch syndrome MONDO:0005835; Muir-Torre syndrome MONDO:0008018 Review for gene: MSH2 was set to GREEN gene: MSH2 was marked as current diagnostic Added comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition. Sources: Expert list |
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| Facial papules v0.39 | MLH1 | Bryony Thompson Marked gene: MLH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Classified gene: MLH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.39 | MLH1 | Bryony Thompson Gene: mlh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.38 | MLH1 |
Bryony Thompson gene: MLH1 was added gene: MLH1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MLH1 were set to 20301390; 11231323; 14994245; 15235030; 8931714; 8751876; 9634524 Phenotypes for gene: MLH1 were set to Lynch syndrome MONDO:0005835 Review for gene: MLH1 was set to GREEN gene: MLH1 was marked as current diagnostic Added comment: The Lynch syndrome variant Muir-Torre syndrome includes sebaceous neoplasms of the skin (including the face) as a main feature of the condition. Sources: Expert list |
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| Facial papules v0.37 | FH | Bryony Thompson Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.37 | FH | Bryony Thompson Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.37 | FH | Bryony Thompson Classified gene: FH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.37 | FH | Bryony Thompson Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.36 | FH |
Bryony Thompson gene: FH was added gene: FH was added to Facial papules. Sources: Expert list Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FH were set to 20301430 Phenotypes for gene: FH were set to Hereditary leiomyomatosis and renal cell cancer MONDO:0007888 Review for gene: FH was set to GREEN gene: FH was marked as current diagnostic Added comment: Cutaneous leiomyomata appear as skin-coloured to light-brown papules as a feature of FH tumour predisposition syndrome and can occasionally occur on the face. Sources: Expert list |
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| Facial papules v0.35 | PTEN | Bryony Thompson Marked gene: PTEN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.35 | PTEN | Bryony Thompson Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.35 | PTEN | Bryony Thompson Classified gene: PTEN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.35 | PTEN | Bryony Thompson Gene: pten has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.34 | PTEN |
Bryony Thompson gene: PTEN was added gene: PTEN was added to Facial papules. Sources: Expert list Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTEN were set to 20301661 Phenotypes for gene: PTEN were set to PTEN hamartoma tumor syndrome MONDO:0017623 Review for gene: PTEN was set to GREEN gene: PTEN was marked as current diagnostic Added comment: Multiple facial papules (trichilemmomas) are a diagnostic feature of Cowden syndrome which is included in PTEN hamartoma tumor syndrome. Sources: Expert list |
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| Facial papules v0.33 | APC | Bryony Thompson Marked gene: APC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.33 | APC | Bryony Thompson Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.33 | APC | Bryony Thompson Classified gene: APC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.33 | APC | Bryony Thompson Gene: apc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.32 | APC |
Bryony Thompson gene: APC was added gene: APC was added to Facial papules. Sources: Expert list Mode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: APC were set to 20301519 Phenotypes for gene: APC were set to Classic or attenuated familial adenomatous polyposis MONDO:0021057 Review for gene: APC was set to GREEN gene: APC was marked as current diagnostic Added comment: Benign cutaneous lesions on the face including epidermoid cysts and fibromas are extra-intestinal features of FAP Sources: Expert list |
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| Facial papules v0.31 | SUFU | Bryony Thompson Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Classified gene: SUFU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.31 | SUFU | Bryony Thompson Gene: sufu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.30 | SUFU |
Bryony Thompson gene: SUFU was added gene: SUFU was added to Facial papules. Sources: Expert list Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUFU were set to 20301330 Phenotypes for gene: SUFU were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: SUFU was set to GREEN gene: SUFU was marked as current diagnostic Added comment: BCCs can present on the face and coarse facial features and facial milia can also be present but are milder than PTCH1-related NBCCS. Sources: Expert list |
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| Cerebral Palsy v1.88 | MAST1 |
Luisa Weiss gene: MAST1 was added gene: MAST1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 31700678; 25666757 Phenotypes for gene: MAST1 were set to Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations MIM#618273 Review for gene: MAST1 was set to AMBER Added comment: Two large CP cohorts, one with one likely pathogenic de novo mutation and two VUS, one of them inherited paternally. The other cohort showed one more case with a de novo missense mutation predicted to be pathogenic. Note that no information is given on the MRI phenotype in these cohorts, so it might be a phenotypic overlap with MIM#618273. Sources: Literature |
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| Facial papules v0.29 | PTCH1 | Bryony Thompson Marked gene: PTCH1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Classified gene: PTCH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.29 | PTCH1 | Bryony Thompson Gene: ptch1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.28 | PTCH1 |
Bryony Thompson gene: PTCH1 was added gene: PTCH1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTCH1 were set to 20301330 Phenotypes for gene: PTCH1 were set to nevoid basal cell carcinoma syndrome MONDO:0007187 Review for gene: PTCH1 was set to GREEN gene: PTCH1 was marked as current diagnostic Added comment: BCCs can present on the face and coarse facial features and facial milia are also present in ~60% of cases with a PTCH1 variant. Sources: Expert list |
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| Facial papules v0.27 | HR | Bryony Thompson Marked gene: HR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Gene: hr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Classified gene: HR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.27 | HR | Bryony Thompson Gene: hr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.26 | HR |
Bryony Thompson gene: HR was added gene: HR was added to Facial papules. Sources: Literature Mode of inheritance for gene: HR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HR were set to 12271294; 9856480; 10205263; 17869066 Phenotypes for gene: HR were set to atrichia with papular lesions MONDO:0008847 Review for gene: HR was set to GREEN gene: HR was marked as current diagnostic Added comment: Facial papules can be a feature of the condition. Sources: Literature |
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| Facial papules v0.25 | NF1 | Bryony Thompson Marked gene: NF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Classified gene: NF1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.25 | NF1 | Bryony Thompson Gene: nf1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.24 | NF1 |
Bryony Thompson gene: NF1 was added gene: NF1 was added to Facial papules. Sources: Literature Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NF1 were set to 23984232; 32298062; 34164111 Phenotypes for gene: NF1 were set to neurofibromatosis type 1 MONDO:0018975 Review for gene: NF1 was set to GREEN gene: NF1 was marked as current diagnostic Added comment: Facial papules and facial plexiform neurofibromatosis have been reported as a presenting feature of the condition. Sources: Literature |
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| Facial papules v0.23 | Bryony Thompson Panel name changed from Facial papules and lesions to Facial papules | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.22 | FLCN | Bryony Thompson Marked gene: FLCN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.22 | FLCN | Bryony Thompson Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.22 | FLCN | Bryony Thompson Classified gene: FLCN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.22 | FLCN | Bryony Thompson Gene: flcn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.21 | FLCN |
Bryony Thompson gene: FLCN was added gene: FLCN was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to 20301695 Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome MONDO:0007607 Review for gene: FLCN was set to GREEN gene: FLCN was marked as current diagnostic Added comment: Multiple facial papules (fibrofolliculomas) are a feature of the condition. Sources: Expert list |
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| Facial papules v0.20 | CYLD | Bryony Thompson Marked gene: CYLD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.20 | CYLD | Bryony Thompson Gene: cyld has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.20 | CYLD | Bryony Thompson Classified gene: CYLD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.20 | CYLD | Bryony Thompson Gene: cyld has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.19 | CYLD |
Bryony Thompson gene: CYLD was added gene: CYLD was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CYLD were set to 32298062 Phenotypes for gene: CYLD were set to familial cylindromatosis MONDO:0007565 Review for gene: CYLD was set to GREEN gene: CYLD was marked as current diagnostic Added comment: Multiple facial papules are a feature of the condition. Sources: Expert list |
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| Facial papules v0.18 | CDKN1B | Bryony Thompson Marked gene: CDKN1B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.18 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.18 | CDKN1B | Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.18 | CDKN1B | Bryony Thompson Added comment: Comment on list classification: Included as MEN1 differential diagnosis | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.18 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.17 | CDKN1B | Bryony Thompson Classified gene: CDKN1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.17 | CDKN1B | Bryony Thompson Gene: cdkn1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.16 | CDKN1B |
Bryony Thompson gene: CDKN1B was added gene: CDKN1B was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDKN1B were set to 20301710 Phenotypes for gene: CDKN1B were set to multiple endocrine neoplasia type 4 MONDO:0012552 Review for gene: CDKN1B was set to AMBER Added comment: Overlapping phenotype with MEN1 with possible association with facial angiofibromas, but I couldn't find any evidence in the literature that these are present in individuals with MEN4. Sources: Expert list |
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| Facial papules v0.15 | RET | Bryony Thompson Marked gene: RET as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Classified gene: RET as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.15 | RET | Bryony Thompson Gene: ret has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.14 | RET |
Bryony Thompson gene: RET was added gene: RET was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RET were set to 20301434 Phenotypes for gene: RET were set to multiple endocrine neoplasia type 2B MONDO:0008082 Mode of pathogenicity for gene: RET was set to Other Review for gene: RET was set to GREEN gene: RET was marked as current diagnostic Added comment: Distinctive facies including lip mucosal neuromas resulting in thick vermilion of the upper and lower lip, and mucosal neuromas of the lips and tongue are characteristic of MEN2B. Gain of function variants mainly involving codon 918 (~95%) cause the condition. Sources: Expert list |
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| Facial papules v0.13 | MEN1 | Bryony Thompson Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Classified gene: MEN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.13 | MEN1 | Bryony Thompson Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.12 | MEN1 |
Bryony Thompson gene: MEN1 was added gene: MEN1 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MEN1 were set to 20301710 Phenotypes for gene: MEN1 were set to multiple endocrine neoplasia type 1 MONDO:0007540 Review for gene: MEN1 was set to GREEN gene: MEN1 was marked as current diagnostic Added comment: Facial angiofibromas are a non-endocrine tumour that can be present in multiple endocrine neoplasia type 1. Sources: Expert list |
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| Facial papules v0.11 | TSC2 | Bryony Thompson Marked gene: TSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.11 | TSC2 | Bryony Thompson Gene: tsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.11 | TSC2 | Bryony Thompson Classified gene: TSC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.11 | TSC2 | Bryony Thompson Gene: tsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.10 | TSC2 |
Bryony Thompson gene: TSC2 was added gene: TSC2 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC2 were set to 20301399 Phenotypes for gene: TSC2 were set to tuberous sclerosis MONDO:0001734 Review for gene: TSC2 was set to GREEN gene: TSC2 was marked as current diagnostic Added comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis Sources: Expert list |
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| Facial papules v0.9 | TSC1 | Bryony Thompson Marked gene: TSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.9 | TSC1 | Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.9 | TSC1 | Bryony Thompson Classified gene: TSC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.9 | TSC1 | Bryony Thompson Gene: tsc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.8 | TSC1 |
Bryony Thompson gene: TSC1 was added gene: TSC1 was added to Facial papules and lesions. Sources: Expert list Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSC1 were set to 20301399 Phenotypes for gene: TSC1 were set to tuberous sclerosis MONDO:0001734 Review for gene: TSC1 was set to GREEN gene: TSC1 was marked as current diagnostic Added comment: Facial angiofibromas are a characteristic feature of the tuberous sclerosis Sources: Expert list |
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| Facial papules v0.7 | Bryony Thompson Panel name changed from Facial papules to Facial papules and lesions | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Marked gene: ECM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Classified gene: ECM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.6 | ECM1 | Bryony Thompson Gene: ecm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.5 | ECM1 |
Bryony Thompson gene: ECM1 was added gene: ECM1 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ECM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECM1 were set to 26803878 Phenotypes for gene: ECM1 were set to lipoid proteinosis MONDO:0009530 Review for gene: ECM1 was set to GREEN gene: ECM1 was marked as current diagnostic Added comment: One of the predominant features of lipoid proteinosis is multiple beaded papules along the eyelid margins and inner canthus known as moniliform blepharosis. Sources: Expert list |
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| Facial papules v0.4 | ATP2A2 | Bryony Thompson Marked gene: ATP2A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.4 | ATP2A2 | Bryony Thompson Gene: atp2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.4 | ATP2A2 | Bryony Thompson Classified gene: ATP2A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.4 | ATP2A2 | Bryony Thompson Gene: atp2a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.3 | ATP2A2 |
Bryony Thompson gene: ATP2A2 was added gene: ATP2A2 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP2A2 were set to 10080178; 31911771 Phenotypes for gene: ATP2A2 were set to Darier disease MONDO:0007417 Review for gene: ATP2A2 was set to GREEN gene: ATP2A2 was marked as current diagnostic Added comment: Papules on the seborrheic areas of the head and neck are a predominant feature of Darier disease. Sources: Expert list |
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| Facial papules v0.2 | ABCC6 | Bryony Thompson Marked gene: ABCC6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.2 | ABCC6 | Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.2 | ABCC6 | Bryony Thompson Classified gene: ABCC6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.2 | ABCC6 | Bryony Thompson Gene: abcc6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Facial papules v0.1 | ABCC6 |
Bryony Thompson gene: ABCC6 was added gene: ABCC6 was added to Facial papules. Sources: Expert list Mode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABCC6 were set to 20301292 Phenotypes for gene: ABCC6 were set to autosomal recessive inherited pseudoxanthoma elasticum MONDO:0009925 Review for gene: ABCC6 was set to GREEN gene: ABCC6 was marked as current diagnostic Added comment: The primary skin lesions present in pseudoxanthoma elasticum are papules that often develop on the lateral aspect of the neck. Sources: Expert list |
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| Facial papules v0.0 |
Bryony Thompson Added Panel Facial papules Set list of related panels to Papule HP:0200034 Set panel types to: Royal Melbourne Hospital |
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| Mendeliome v1.943 | FGFR3 | Achchuthan Shanmugasundram reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22565872, 29150894, 37010288; Phenotypes: Muenke syndrome, OMIM:602849, Hypochondroplasia, OMIM:146000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.66 | SPTSSA | Zornitza Stark Phenotypes for gene: SPTSSA were changed from complex hereditary spastic paraplegia, MONDO:0015150 to Spastic paraplegia 90B, autosomal recessive , MIM# 620417; Spastic paraplegia 90A, autosomal dominant, MIM# 620416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | SPTSSA | Zornitza Stark edited their review of gene: SPTSSA: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | SPTSSA | Zornitza Stark edited their review of gene: SPTSSA: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | SPTSSA | Zornitza Stark reviewed gene: SPTSSA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 90B, autosomal recessive , MIM# 620417, Spastic paraplegia 90A, autosomal dominant, MIM# 620416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.943 | SPTSSA | Zornitza Stark Phenotypes for gene: SPTSSA were changed from complex hereditary spastic paraplegia, MONDO:0015150 to Spastic paraplegia 90B, autosomal recessive , MIM# 620417; Spastic paraplegia 90A, autosomal dominant, MIM# 620416 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.942 | SPTSSA | Zornitza Stark reviewed gene: SPTSSA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 90B, autosomal recessive , MIM# 620417, Spastic paraplegia 90A, autosomal dominant, MIM# 620416; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.942 | VWA8 | Zornitza Stark Phenotypes for gene: VWA8 were changed from Retinitis pigmentosa (MONDO:0019200), VWA8-related to Retinitis pigmentosa 97, MIM#620422 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | VWA8 | Zornitza Stark reviewed gene: VWA8: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 97, MIM#620422; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | ARID1B |
Achchuthan Shanmugasundram changed review comment from: There are at least three unrelated cases with monoallelic variants in ARID1B gene reported with either cleft palate, cleft uvula or bifid uvula. Hence, this gene can be added with green rating in the Clefting disorders panel. PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. One patient with ARID1B variant (c.3183_3184​insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients with ARID1B variants (c.4155_4156​insA/ p.Asn1386LysfsTer18 & c.2620+5G​>A) were reported with bifid uvula in DECIPHER database.; to: Although there are more than three unrelated cases with ARID1B monoallelic variants reported with either cleft palate, cleft uvula or bifid uvula, clefting isn not consistently present in patients with ARID1B variants. Hence, this gene can be added with amber rating in the Clefting disorders panel. PMID:30349098 - On this web-based survey based on previously reported features of patients with variants in ARID1B gene (143 patients in total), which also included submissions to DECIPHER database, two patients were identified with cleft palate, one with cleft uvula, two with bifid uvula and three with sub mucous cleft. Although variants identified in these patients are reported in this publication, there is no association of individual patients to phenotypes available. Of >100 patients with ARID1B variants in the DECIPHER database, only one patient (c.3183_3184​insT/ p.Tyr1062LeufsTer10) was reported with submucous cleft soft palate and two patients (c.4155_4156​insA/ p.Asn1386LysfsTer18 & c.2620+5G​>A) were reported with bifid uvula. |
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| Mendeliome v1.941 | ARID1B | Achchuthan Shanmugasundram edited their review of gene: ARID1B: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | CHD4 |
Achchuthan Shanmugasundram changed review comment from: This gene should be added to the Clefting disorders panel with a green rating as there are four unrelated cases presenting with either cleft palate and/or bifid uvula. PMID:3138819 reported a patient with heterozygous variant (p.Gln715Ter) in CHD4 that had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, DDD study reported two patients with likely pathogenic heterozygous variants who had cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288); to: Although there are four unrelated cases presenting with either cleft palate and/or bifid uvula, this phenotype is not consistent among patients identified with monoallelic variants in CHD4 gene. Hence, this gene should be added to the Clefting disorders panel with amber rating. PMID:31388190 reported 32 patients with heterozygous variants in CHD4 gene, of which one patient (p.Gln715Ter) had cleft palate and pierre robin. In addition, another patient identified with heterozygous variant p.Arg1127Gln was reported with bifid uvula. In addition, 2 out of 10 patients with pathogenic/ likely pathogenic heterozygous variants from the DDD study were reported with cleft palate in addition to several other clinical presentations including global developmental delay (PMID:37010288). |
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| Mendeliome v1.941 | CHD4 | Achchuthan Shanmugasundram edited their review of gene: CHD4: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | B4GALT7 | Achchuthan Shanmugasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | DDX3X | Achchuthan Shanmugasundram Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | DDX3X | Achchuthan Shanmugasundram reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26235985, 27159028, 37010288; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | CNTNAP1 | Achchuthan Shanmugasundram reviewed gene: CNTNAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28374019, 29511323, 29882456, 37010288; Phenotypes: Hypomyelinating neuropathy, congenital, 3, OMIM:618186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | ARID1B | Achchuthan Shanmugasundram reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30349098, 37010288; Phenotypes: Coffin-Siris syndrome 1, OMIM:135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.83 | TUFT1 | Zornitza Stark Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.82 | TUFT1 | Zornitza Stark edited their review of gene: TUFT1: Changed publications: 36689522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.941 | TUFT1 | Zornitza Stark Publications for gene: TUFT1 were set to https://doi.org/10.1093/bjd/ljac026 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.940 | TUFT1 | Zornitza Stark edited their review of gene: TUFT1: Changed publications: 36689522 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.82 | TUFT1 | Zornitza Stark Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ectodermal Dysplasia v0.81 | TUFT1 | Zornitza Stark edited their review of gene: TUFT1: Changed phenotypes: Woolly hair-skin fragility syndrome, MIM# 620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.940 | TUFT1 | Zornitza Stark Phenotypes for gene: TUFT1 were changed from Ectodermal dysplasia, MONDO:0019287, TUFT1-related to Woolly hair-skin fragility syndrome, MIM# 620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.939 | TUFT1 | Zornitza Stark edited their review of gene: TUFT1: Changed phenotypes: Woolly hair-skin fragility syndrome, MIM# 620415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.939 | CHD4 | Achchuthan Shanmugasundram reviewed gene: CHD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31388190, 37010288; Phenotypes: Sifrim-Hitz-Weiss syndrome, OMIM:617159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting disorders v0.196 | B4GALT7 | Achchuthan Shanmugasundram reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24755949, 26940150, 31278392; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | DNAJC3 | Sangavi Sivagnanasundram reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466870, 32738013, 34654017; Phenotypes: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, MIM# 616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | DDHD1 | Sangavi Sivagnanasundram reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 28, autosomal recessive, MIM# 609340, MONDO:0012256; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Long QT Syndrome v0.61 | CAV3 | Daniel Flanagan reviewed gene: CAV3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31983240, 17060380, 17275750, 30588629; Phenotypes: Long QT syndrome 9 (MIM#611818); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MLC1 |
Luisa Weiss gene: MLC1 was added gene: MLC1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLC1 were set to 34788679 Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts MIM#604004 Review for gene: MLC1 was set to AMBER Added comment: One patient in a larger CP cohort harbouring compound heterozygous MLC1 mutations. Phenotypic overlap between MIM#604004 and CP, however, seems small, as MIM#604004 is a progressive neurological disorder with MRI abnormalities. Sources: Literature |
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| Genetic Epilepsy v0.1864 | STXBP1 | Michelle Torres reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31855252; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | MFN2 | Luisa Weiss reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33528536, 34114234, 34531397; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A MIM#609260, Hereditary motor and sensory neuropathy VIA MIM#601152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | TUBB2B | Zornitza Stark Marked gene: TUBB2B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | TUBB2B | Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.88 | TUBB2B | Zornitza Stark Publications for gene: TUBB2B were set to PMID: 33528536 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.87 | TUBB2B | Zornitza Stark Classified gene: TUBB2B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.87 | TUBB2B | Zornitza Stark Gene: tubb2b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | TUBB2B | Luisa Weiss reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34077496; Phenotypes: Cortical dysplasia, complex, with other brain malformations MIM#610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | WDR26 |
Luisa Weiss gene: WDR26 was added gene: WDR26 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WDR26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR26 were set to 33528536; 34788679 Phenotypes for gene: WDR26 were set to Skraban-Deardorff syndrome MIM#617616 Review for gene: WDR26 was set to GREEN Added comment: Two large CP cohort studies with 3 individual patients harbouring de novo missense or nonsense mutations or whole gene deletions in WDR26. Sources: Literature |
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| Cerebral Palsy v1.86 | WWOX |
Luisa Weiss gene: WWOX was added gene: WWOX was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WWOX were set to 34540776; 30361190; 33528536 Phenotypes for gene: WWOX were set to Developmental and epileptic encephalopathy MIM#616211; Spinocerebellar ataxia MIM#6143223 Review for gene: WWOX was set to GREEN Added comment: 2 large CP cohort studies with 4 patients in total harbouring a biallelic WWOX mutation. In addition, case reports of patients with epileptic encephalopathy due to WWOX mutations show significant phenotypic overlap with CP Sources: Literature |
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| Neuromuscular Superpanel v1.0 |
Bryony Thompson Added Panel Neuromuscular Superpanel Set child panels to: Hereditary Spastic Paraplegia - paediatric; Dystonia - isolated/combined; Hereditary Neuropathy_CMT - isolated; Gastrointestinal neuromuscular disease; Limb-Girdle Muscular Dystrophy and Distal Myopathy; Congenital Myasthenia; Ataxia - paediatric; Malignant Hyperthermia Susceptibility; Hereditary Spastic Paraplegia - adult onset; Ataxia - adult onset; Skeletal Muscle Channelopathies; Muscular dystrophy and myopathy_Paediatric; Rhabdomyolysis and Metabolic Myopathy; Arthrogryposis; Dystonia - complex; Hereditary Neuropathy - complex; Motor Neurone Disease; Paroxysmal Dyskinesia Set panel types to: Superpanel; Royal Melbourne Hospital |
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| Callosome v0.494 | MLH1 | Chirag Patel Classified gene: MLH1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.494 | MLH1 | Chirag Patel Gene: mlh1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.493 | MSH2 | Chirag Patel Classified gene: MSH2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.493 | MSH2 | Chirag Patel Gene: msh2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.492 | MSH6 | Chirag Patel Classified gene: MSH6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.492 | MSH6 | Chirag Patel Gene: msh6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.289 | ACTA2 | Bryony Thompson Marked gene: ACTA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.289 | ACTA2 | Bryony Thompson Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.289 | ACTA2 | Bryony Thompson Classified gene: ACTA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.289 | ACTA2 | Bryony Thompson Gene: acta2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.288 | ACTA2 |
Bryony Thompson gene: ACTA2 was added gene: ACTA2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTA2 were set to 29300374 Phenotypes for gene: ACTA2 were set to multisystemic smooth muscle dysfunction syndrome MONDO:0013452 Mode of pathogenicity for gene: ACTA2 was set to Other Review for gene: ACTA2 was set to GREEN gene: ACTA2 was marked as current diagnostic Added comment: Hyperintense periventricular white matter lesions were present in 95% (21/22) of smooth muscle dysfunction syndrome cases with missense variants involving Arg179. Age of diagnosis varied from infancy to adulthood. Sources: Literature |
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| Cerebral Palsy v1.86 | MAP2K1 | Luisa Weiss edited their review of gene: MAP2K1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | MAP2K1 |
Luisa Weiss gene: MAP2K1 was added gene: MAP2K1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP2K1 were set to 33528536 Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous syndrome MIM#615279 Added comment: Four individual cases in one large CP cohort study. All of them missense and confirmed de novo. Note that the c.A389G,p.Y130C mutation affected 3/4 patients and seems to be a recurrent mutation. This mutation has also been described in patients with cardiofaciocutanuous syndrome. Sources: Literature |
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| Cerebral Palsy v1.86 | KMT2B | Luisa Weiss reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 25666757; Phenotypes: Dystonia 28, childhood-onset MIM#617284, Intellectual developmental disorder, autosomal dominant MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | KCNT1 |
Luisa Weiss gene: KCNT1 was added gene: KCNT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNT1 were set to 33528536; 34788679 Phenotypes for gene: KCNT1 were set to Developmental and epileptic encephalopathy MIM#614959 Review for gene: KCNT1 was set to GREEN Added comment: 4 cases in two large CP cohort studies. All of them are missense mutations, mostly confirmed de novo mutations. Sources: Literature |
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| Cerebral Palsy v1.86 | KCNB1 |
Luisa Weiss gene: KCNB1 was added gene: KCNB1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KCNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNB1 were set to 33528536; 34788679 Phenotypes for gene: KCNB1 were set to Developmental and epileptic encephalopathy MIM#616056 Review for gene: KCNB1 was set to AMBER Added comment: One case each in two large CP cohort studies with heterozygous missense mutations, only one of the mutations confirmed de novo. Sources: Literature |
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| Cerebral Palsy v1.86 | KAT6A |
Luisa Weiss gene: KAT6A was added gene: KAT6A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: KAT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6A were set to 33528536 Phenotypes for gene: KAT6A were set to Arboleda-Tham syndrome MIM#616268 Review for gene: KAT6A was set to GREEN Added comment: Several cases in a large CP cohort study with Loss of function mutations in KAT6A, all mutations confrimed de novo Sources: Literature |
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| Cerebral Palsy v1.86 | IRF2BPL |
Luisa Weiss gene: IRF2BPL was added gene: IRF2BPL was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: IRF2BPL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IRF2BPL were set to 30057031; 30166628 Phenotypes for gene: IRF2BPL were set to Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MIM#618088 Review for gene: IRF2BPL was set to GREEN Added comment: Two large IRF2BPL cohort studies, in one study (PMID:30166628) two children had previously been described with different forms of CP and later found to have a frameshift IRF2BPL mutation. In the other publication (PMID:3005703) there was significant phenotypic overlap with spasticity and non-progressive movemetn disorder, even though no formal CP diagnosis had been made. Sources: Literature |
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| Cerebral Palsy v1.86 | IQSEC2 | Luisa Weiss reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536; Phenotypes: Intellectual developmental disorder MIM#09530; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | GFAP | Bryony Thompson Marked gene: GFAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | GFAP | Bryony Thompson Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | GFAP | Bryony Thompson Classified gene: GFAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.65 | GFAP | Bryony Thompson Gene: gfap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.64 | GFAP |
Bryony Thompson gene: GFAP was added gene: GFAP was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFAP were set to 34146839 Phenotypes for gene: GFAP were set to Alexander disease MONDO:0008752 Review for gene: GFAP was set to GREEN gene: GFAP was marked as current diagnostic Added comment: Spasticity was a feature of the condition in 23.9% of an infantile cohort (n=135) with a clinical and genetic diagnosis of Alexander disease Sources: Expert list |
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| Predominantly Antibody Deficiency v0.125 | TCF3 | Peter McNaughton reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37277074; Phenotypes: Hypogammaglobulinaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | RYR1 | Bryony Thompson Marked gene: RYR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | RYR1 | Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | RYR1 | Bryony Thompson Classified gene: RYR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.20 | RYR1 | Bryony Thompson Gene: ryr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.19 | RYR1 |
Bryony Thompson gene: RYR1 was added gene: RYR1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: RYR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RYR1 were set to 30842289; 33458580 Phenotypes for gene: RYR1 were set to calf predominant distal myopathy; distal myopathy MONDO:0018949 Review for gene: RYR1 was set to GREEN gene: RYR1 was marked as current diagnostic Added comment: Distal myopathy has been reported as a presenting feature of both monoallelic and biallelic RYR1-related myopathy Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 | NEB | Bryony Thompson Marked gene: NEB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 | NEB | Bryony Thompson Gene: neb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 | NEB | Bryony Thompson Classified gene: NEB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.18 | NEB | Bryony Thompson Gene: neb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.17 | NEB |
Bryony Thompson gene: NEB was added gene: NEB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEB were set to 21724397; 17525139; 33458580; 25205138 Phenotypes for gene: NEB were set to distal myopathy MONDO:0018949 Review for gene: NEB was set to GREEN gene: NEB was marked as current diagnostic Added comment: Distal myopathy has been reported as a presenting feature, mainly in cases with biallelic missense variants. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 | OPDM1 | Bryony Thompson Marked STR: OPDM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 | OPDM1 | Bryony Thompson Str: opdm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 | OPDM1 | Bryony Thompson Classified STR: OPDM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.16 | OPDM1 | Bryony Thompson Str: opdm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.15 | OPDM1 |
Bryony Thompson STR: OPDM1 was added STR: OPDM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: OPDM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM1 were set to 31332380; 34047774 Phenotypes for STR: OPDM1 were set to Oculopharyngodistal myopathy 1 MIM#164310 Review for STR: OPDM1 was set to GREEN STR: OPDM1 was marked as clinically relevant Added comment: NM_013437.5:c.-102CGG[X] RNA-mediated toxicity is thought to be the mechanism of disease. Sixty-five Japanese patients with oculopharyngodistal myopathy (OPDM) from 59 families with CGG repeat expansions in LRP12. This represents the most common OPDM subtype among all patients in Japan with genetically diagnosed OPDM. Normal: 13 to 45 repeats. Pathogenic: 85 to 289 repeats. Sources: Expert list |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 | OPDM2 | Bryony Thompson Marked STR: OPDM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 | OPDM2 | Bryony Thompson Str: opdm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 | OPDM2 | Bryony Thompson Classified STR: OPDM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.14 | OPDM2 | Bryony Thompson Str: opdm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.13 | OPDM2 |
Bryony Thompson STR: OPDM2 was added STR: OPDM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: OPDM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: OPDM2 were set to 32413282; 33374016 Phenotypes for STR: OPDM2 were set to Oculopharyngodistal myopathy 2 MIM#618940 Review for STR: OPDM2 was set to GREEN STR: OPDM2 was marked as clinically relevant Added comment: NM_005716.4:c.-211GGC[X] >15 Chinese families/probands with a heterozygous trinucleotide repeat expansion (CGG(n)) in 5'UTR exon 1 of the GIPC1 gene. The expansion was found by a combination of linkage analysis, whole-exome sequencing, long-range sequencing, and PCR analysis, and segregated with the disorder in the family. Repeat lengths in the patients ranged from 70 to 138. Normal repeat lengths ranged from 12 to 32. Sources: Expert list |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 | NIID | Bryony Thompson Marked STR: NIID as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 | NIID | Bryony Thompson Str: niid has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 | NIID | Bryony Thompson Classified STR: NIID as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.12 | NIID | Bryony Thompson Str: niid has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.11 | NIID |
Bryony Thompson STR: NIID was added STR: NIID was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: NIID was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: NIID were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668 Phenotypes for STR: NIID were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866 Review for STR: NIID was set to GREEN STR: NIID was marked as clinically relevant Added comment: NM_001364012.2:c.-164GGC[X] Expanded repeat in NOTCH2NLC sequence is (GGC)9(GGA)2(GGC)2. Large number of families and sporadic cases reported with expansions, with a range of neurodegenerative phenotypes, including: dementia, Parkinsonism/tremor, peripheral neuropathy, leukoencephalopathy, myopathy, motor neurone disease. Normal repeat range: 4-40, 1 control had 61 repeats and may have been a presymptomatic carrier. Intermediate range: 41-60 identified in Parkinson's disease Pathogenic repeat range: >=60-520 Mechanism of disease is translation of repeat expansion into a toxic polyglycine protein, identified in both mouse models and tissue samples from affected individuals. Sources: Expert list |
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| Mendeliome v1.939 | KLHL9 | Bryony Thompson Marked gene: KLHL9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.939 | KLHL9 | Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.939 | KLHL9 | Bryony Thompson Classified gene: KLHL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.939 | KLHL9 | Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.938 | KLHL9 |
Bryony Thompson changed review comment from: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Sources: Literature; to: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Ankle flexion contracture is reported in a mouse model, but there are other significant features present in the homozygous animals too - https://www.mousephenotype.org/data/genes/MGI:2180122 Sources: Literature |
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| Mendeliome v1.938 | KLHL9 |
Bryony Thompson gene: KLHL9 was added gene: KLHL9 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL9 were set to 20554658 Phenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949 Review for gene: KLHL9 was set to AMBER Added comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 | KLHL9 | Bryony Thompson Marked gene: KLHL9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 | KLHL9 | Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 | KLHL9 | Bryony Thompson Classified gene: KLHL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.10 | KLHL9 | Bryony Thompson Gene: klhl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.9 | KLHL9 | Bryony Thompson edited their review of gene: KLHL9: Changed publications: 20554658, 33458580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.9 | KLHL9 |
Bryony Thompson gene: KLHL9 was added gene: KLHL9 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: KLHL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL9 were set to 20554658 Phenotypes for gene: KLHL9 were set to distal myopathy MONDO:0018949 Review for gene: KLHL9 was set to AMBER Added comment: A single German family reported in 2010, segregating a missense variant c.796T>C p.Leu95Phe. In vitro functional assays demonstrated the variant diminishes the binding of KLHL9 to Cul3. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Marked gene: HSPB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Classified gene: HSPB8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.8 | HSPB8 | Bryony Thompson Gene: hspb8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.7 | HSPB8 |
Bryony Thompson gene: HSPB8 was added gene: HSPB8 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HSPB8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HSPB8 were set to 32165108; 26718575; 31403083; 28780615 Phenotypes for gene: HSPB8 were set to autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome MONDO:0018773 Mode of pathogenicity for gene: HSPB8 was set to Other Review for gene: HSPB8 was set to GREEN gene: HSPB8 was marked as current diagnostic Added comment: At least 4 reported unrelated families with distal myopathy and a supporting mouse model. Toxic gain of function is the mechanism of disease. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Classified gene: DNM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.6 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.5 | DNM2 |
Bryony Thompson gene: DNM2 was added gene: DNM2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DNM2 were set to 16227997; 33458580; 30232666; 24465259; 23938035 Phenotypes for gene: DNM2 were set to autosomal dominant centronuclear myopathy MONDO:0008048 Review for gene: DNM2 was set to GREEN gene: DNM2 was marked as current diagnostic Added comment: Distal myopathy is a common feature reported in affected cases. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Marked STR: MRUPAV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Classified STR: MRUPAV as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.4 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.3 | MRUPAV |
Bryony Thompson STR: MRUPAV was added STR: MRUPAV was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779 Phenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945 Review for STR: MRUPAV was set to GREEN STR: MRUPAV was marked as clinically relevant Added comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation. Suggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) An additional 4 unrelated Chinese families/probands were reported. Normal PLIN4 alleles: 27-31 x 33-mer Pathogenic: ≥39 x 33-mer Sources: Literature |
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| Repeat Disorders v0.155 | MRUPAV | Bryony Thompson Marked STR: MRUPAV as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.155 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.155 | MRUPAV | Bryony Thompson Classified STR: MRUPAV as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.155 | MRUPAV | Bryony Thompson Str: mrupav has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Repeat Disorders v0.154 | MRUPAV |
Bryony Thompson STR: MRUPAV was added STR: MRUPAV was added to Repeat Disorders. Sources: Literature adult-onset tags were added to STR: MRUPAV. Mode of inheritance for STR: MRUPAV was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: MRUPAV were set to 32451610; 37145156; 36151849; 35499779 Phenotypes for STR: MRUPAV were set to myopathy, distal, with rimmed vacuoles MONDO:0014945 Review for STR: MRUPAV was set to GREEN STR: MRUPAV was marked as clinically relevant Added comment: Expansion of 33-mer (33 amino acids, 99 bp) identified in coding exon 3 (exon 5) of PLIN4 via linkage analysis and long read sequencing in a large Italian cohort with progressive myopathy with specific pathology including rimmed ubiquitin-positive autophagic vacuolation. Suggested disease name myopathy with rimmed ubiquitin-positive autophagic vacuolation (MRUPAV) An additional 4 unrelated Chinese families/probands were reported. Normal PLIN4 alleles: 27-31 x 33-mer Pathogenic: ≥39 x 33-mer Sources: Literature |
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| Congenital Heart Defect v0.288 | ZMYND10 | Bryony Thompson Marked gene: ZMYND10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.288 | ZMYND10 | Bryony Thompson Gene: zmynd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | IFIH1 |
Luisa Weiss gene: IFIH1 was added gene: IFIH1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFIH1 were set to 34788679; 33177673; 33528536 Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7 MIM#615846; Immunodeficiency 95 MIM#619773; Singleton-Merten syndrome MIM#182250 Review for gene: IFIH1 was set to GREEN Added comment: Three large CP cohort publication with one patient each presenting with CP and harbouring a IFIH1 mutation (missense mutations). Note that the gene can have a very variable phenotype and incomplete penetrance has been reported for other diseases associated with mutatons in this gene. Sources: Literature |
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| Congenital Heart Defect v0.288 | ZMYND10 | Bryony Thompson Classified gene: ZMYND10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.288 | ZMYND10 | Bryony Thompson Gene: zmynd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | HUWE1 |
Luisa Weiss gene: HUWE1 was added gene: HUWE1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HUWE1 were set to 31700678 Phenotypes for gene: HUWE1 were set to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590 Review for gene: HUWE1 was set to AMBER Added comment: 1 large CP cohort study with three cases of HUWE1 mutation, two of which are VUS and one a likely benign variant. Note that one of the VUS is paternally inherited. No certain phenotypic overlap as HUWE1 mutations tend to cause ID, sometimes with muscular hypotonia. Sources: Literature |
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| Congenital Heart Defect v0.287 | ZMYND10 |
Bryony Thompson gene: ZMYND10 was added gene: ZMYND10 was added to Congenital Heart Defect. Sources: Other Mode of inheritance for gene: ZMYND10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZMYND10 were set to 23891471; 23891469; 29402277 Phenotypes for gene: ZMYND10 were set to Primary ciliary dyskinesia 22 MONDO:0014192 Review for gene: ZMYND10 was set to GREEN gene: ZMYND10 was marked as current diagnostic Added comment: CHD is a commonly reported feature of the condition. Sources: Other |
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| Cerebral Palsy v1.86 | HPRT1 |
Luisa Weiss gene: HPRT1 was added gene: HPRT1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: HPRT1 were set to 34788679, 30799092 Phenotypes for gene: HPRT1 were set to Hyperuricemia, HRPT-related MIM#300323; Lesch-Nyhan syndrome MIM#300322 Review for gene: HPRT1 was set to GREEN Added comment: Several (>3) cases in large CP cohort studies present with different forms of CP. Sources: Literature |
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| Congenital Heart Defect v0.286 | Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.285 | TTC25 | Bryony Thompson Marked gene: TTC25 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.285 | TTC25 | Bryony Thompson Gene: ttc25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.285 | TTC25 | Bryony Thompson Classified gene: TTC25 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.285 | TTC25 | Bryony Thompson Gene: ttc25 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.284 | TTC25 |
Bryony Thompson gene: TTC25 was added gene: TTC25 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC25 were set to 34215651; 33746037; 27486780 Phenotypes for gene: TTC25 were set to primary ciliary dyskinesia 35 MONDO:0014910 Review for gene: TTC25 was set to GREEN Added comment: At least 3 probands reported with congenital heart defects and a supporting mouse model. Sources: Literature |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 | MB | Bryony Thompson Marked gene: MB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 | MB | Bryony Thompson Gene: mb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 | MB | Bryony Thompson Classified gene: MB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.2 | MB | Bryony Thompson Gene: mb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.1 | MB |
Bryony Thompson gene: MB was added gene: MB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other Mode of inheritance for gene: MB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MB were set to 35527200; 30918256 Phenotypes for gene: MB were set to Myopathy, sarcoplasmic body MIM#620286 Review for gene: MB was set to GREEN Added comment: Single recurrent variant (H98Y) was reported in multiple unrelated families. Only reported pathogenic variant to date. Sources: Other |
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| Myopathy Superpanel v4.1 | Bryony Thompson Changed child panels to: Malignant Hyperthermia Susceptibility; Skeletal Muscle Channelopathies; Rhabdomyolysis and Metabolic Myopathy; Muscular dystrophy and myopathy_Paediatric; Limb-Girdle Muscular Dystrophy and Distal Myopathy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.202 |
Bryony Thompson Panel name changed from Muscular dystrophy_Paediatric to Muscular dystrophy and myopathy_Paediatric HPO terms changed from Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236 to Muscular dystrophy, HP:0003560; Elevated circulating creatine kinase concentration, HP:0003236; Myopathy, HP:0003198 List of related panels changed from Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236 to Muscular dystrophy; HP:0003560; Elevated circulating creatine kinase concentration; HP:0003236; Myopathy; HP:0003198 |
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.0 | Bryony Thompson promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 | VCP | Bryony Thompson Classified gene: VCP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 | VCP | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity - reviewed 23/12/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.156 | VCP | Bryony Thompson Gene: vcp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.200 | TRDN | Bryony Thompson Marked gene: TRDN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.200 | TRDN | Bryony Thompson Gene: trdn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.200 | TRDN | Bryony Thompson Classified gene: TRDN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.200 | TRDN | Bryony Thompson Added comment: Comment on list classification: Congenital myopathy can be a feature of the condition | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.200 | TRDN | Bryony Thompson Gene: trdn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.199 | TRDN |
Bryony Thompson gene: TRDN was added gene: TRDN was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 28202702; 30649896; 34415104 Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441 |
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| Muscular dystrophy and myopathy_Paediatric v0.198 | TNNT3 | Bryony Thompson Marked gene: TNNT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.198 | TNNT3 | Bryony Thompson Gene: tnnt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.198 | TNNT3 | Bryony Thompson Classified gene: TNNT3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.198 | TNNT3 | Bryony Thompson Gene: tnnt3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.197 | TNNT3 |
Bryony Thompson gene: TNNT3 was added gene: TNNT3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNT3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TNNT3 were set to 33977145; 29266598; 23775847 Phenotypes for gene: TNNT3 were set to Nemaline myopathy MONDO:0018958 Review for gene: TNNT3 was set to GREEN Added comment: 2 unrelated families with nemaline myopathy and splice variants. Also, a supporting mouse model. Sources: Other |
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| Muscular dystrophy and myopathy_Paediatric v0.196 | TNNT1 | Bryony Thompson Marked gene: TNNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.196 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.196 | TNNT1 | Bryony Thompson Classified gene: TNNT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.196 | TNNT1 | Bryony Thompson Added comment: Comment on list classification: Biallelic Nemaline myopathy is classified as definitive by ClinGen Congenital Myopathies VCEP (reviewed 07/05/2020) with a LoF mechanism of disease, whereas monoallelic Nemaline myopathy is classified as limited (reviewed 22/06/2020) with an expected GoF mechanism of disease. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.196 | TNNT1 | Bryony Thompson Gene: tnnt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.195 | TNNT1 |
Bryony Thompson gene: TNNT1 was added gene: TNNT1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: TNNT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TNNT1 were set to 10952871; 32994279; 32819427; 31970803; 31604653; 29931346; 29178646 Phenotypes for gene: TNNT1 were set to Nemaline myopathy 5 MONDO:0011539; Nemaline myopathy MONDO:0018958 |
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| Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Marked gene: TAMM41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Classified gene: TAMM41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.192 | TAMM41 | Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.191 | TAMM41 |
Bryony Thompson gene: TAMM41 was added gene: TAMM41 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAMM41 were set to 35321494; 29253589 Phenotypes for gene: TAMM41 were set to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139 |
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| Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Marked gene: SUCLG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Classified gene: SUCLG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.190 | SUCLG1 | Bryony Thompson Gene: suclg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.189 | SUCLG1 |
Bryony Thompson gene: SUCLG1 was added gene: SUCLG1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SUCLG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUCLG1 were set to 30560055; 29217198 Phenotypes for gene: SUCLG1 were set to mitochondrial DNA depletion syndrome 9 MONDO:0009504 |
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| Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Marked gene: SCO2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Gene: sco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Classified gene: SCO2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.188 | SCO2 | Bryony Thompson Gene: sco2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.187 | SCO2 |
Bryony Thompson gene: SCO2 was added gene: SCO2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 23719228 Phenotypes for gene: SCO2 were set to cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0011451 gene: SCO2 was marked as current diagnostic |
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| Rhabdomyolysis and Metabolic Myopathy v0.186 | RMND1 | Bryony Thompson Classified gene: RMND1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.186 | RMND1 | Bryony Thompson Gene: rmnd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.185 | RMND1 |
Bryony Thompson gene: RMND1 was added gene: RMND1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RMND1 were set to 23022099; 25604853; 27843092 Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation defect type 11 MONDO:0013969 |
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| Cerebral Palsy v1.86 | HPDL | Luisa Weiss reviewed gene: HPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: 33634263, 32707086; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MIM#619026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.184 | TSFM | Bryony Thompson Classified gene: TSFM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.184 | TSFM | Bryony Thompson Gene: tsfm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson commented on gene: TSFM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | TSFM | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Marked gene: PYROXD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Classified gene: PYROXD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity classification by ClinGen Congenital Myopathy VCEP - reviewed 05/11/2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.194 | PYROXD1 | Bryony Thompson Gene: pyroxd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.193 | PYROXD1 |
Bryony Thompson gene: PYROXD1 was added gene: PYROXD1 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYROXD1 were set to 30345904; 30515627; 27745833 Phenotypes for gene: PYROXD1 were set to Myofibrillar myopathy 8 MONDO:0014993 gene: PYROXD1 was marked as current diagnostic |
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| Muscular dystrophy and myopathy_Paediatric v0.192 | MYO18B | Bryony Thompson Marked gene: MYO18B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.192 | MYO18B | Bryony Thompson Gene: myo18b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.192 | MYO18B | Bryony Thompson Classified gene: MYO18B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.192 | MYO18B | Bryony Thompson Added comment: Comment on list classification: Moderate gene-disease validity classified by ClinGen Congenital Myopathy VCEP - reviewed 28/06/2021 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.192 | MYO18B | Bryony Thompson Gene: myo18b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.191 | MYO18B |
Bryony Thompson gene: MYO18B was added gene: MYO18B was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346 Phenotypes for gene: MYO18B were set to Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014689 |
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| Mendeliome v1.937 | MYMX | Bryony Thompson Marked gene: MYMX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.937 | MYMX | Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.937 | MYMX | Bryony Thompson Classified gene: MYMX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.937 | MYMX | Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.936 | MYMX |
Bryony Thompson gene: MYMX was added gene: MYMX was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMX were set to 35642635 Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMX was set to AMBER Added comment: Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype. Sources: Literature |
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| Muscular dystrophy and myopathy_Paediatric v0.190 | MYMX | Bryony Thompson Marked gene: MYMX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.190 | MYMX | Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.190 | MYMX | Bryony Thompson Classified gene: MYMX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.190 | MYMX | Bryony Thompson Gene: mymx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.189 | MYMX |
Bryony Thompson gene: MYMX was added gene: MYMX was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: MYMX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMX were set to 35642635 Phenotypes for gene: MYMX were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMX was set to AMBER Added comment: Single family, two siblings with weakness of the facial musculature, hypomimic face, increased overbite, micrognathia, and facial dysmorphism with homozygous p.Arg46*. The phenotype resembles CFZ syndrome. The variant prevents fusion of myoblasts from patient-derived iPSCs. Mouse model recapitulates a lethal CFZS-like phenotype. Sources: Literature |
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| Muscular dystrophy and myopathy_Paediatric v0.188 | MYMK | Bryony Thompson Classified gene: MYMK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.188 | MYMK | Bryony Thompson Gene: mymk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.187 | MYMK | Bryony Thompson Classified gene: MYMK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.187 | MYMK | Bryony Thompson Gene: mymk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.186 | MYMK | Bryony Thompson Marked gene: MYMK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.186 | MYMK | Bryony Thompson Gene: mymk has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.186 | MYMK |
Bryony Thompson gene: MYMK was added gene: MYMK was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYMK were set to 32333597; 30065953 Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome MONDO:0009700 Review for gene: MYMK was set to GREEN gene: MYMK was marked as current diagnostic Added comment: Carey-Fineman-Ziter syndrome is considered a congenital myopathy Sources: Other |
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| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Marked gene: MYH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Classified gene: MYH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Added comment: Comment on list classification: Definitive gene-disease validity by the ClinGen Congenital Myopathy VCEP - reviewed 09/03/2020 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.185 | MYH2 | Bryony Thompson Gene: myh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.184 | MYH2 |
Bryony Thompson gene: MYH2 was added gene: MYH2 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYH2 were set to 20418530; 15548556; 24193343; 11114175; 23489661; 32578970; 29934118; 28729039; 27490141; 27177998 Phenotypes for gene: MYH2 were set to Myopathy, proximal, and ophthalmoplegia MONDO:0011577 gene: MYH2 was marked as current diagnostic |
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| Cerebral Palsy v1.86 | GRIN1 |
Luisa Weiss gene: GRIN1 was added gene: GRIN1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GRIN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GRIN1 were set to 33528536; 34788679 Phenotypes for gene: GRIN1 were set to Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant MIM#614254 AD Review for gene: GRIN1 was set to GREEN Added comment: 3 individuals in a large CP cohort study with heterozygous mutations in GRIN1, two of which reported to be de novo. Another single patient in a large cohort study with heterozygous de novo mutation. All of these mutations are missense mutations. Note that there are other disorders associated with this gene that are due to biallelic mutations in GRIN1, however, for CP only heterozygous mutations are described so far. Sources: Literature |
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| Cerebral Palsy v1.86 | GCDH | Luisa Weiss Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | GCDH |
Luisa Weiss edited their review of gene: GCDH: Added comment: One larger cohort study on 34 patients with Glutaric Aciduria Type 1 (GA1) that showed that patient diagnosed clinically will develop a CP at school age in 64% (7 out of 11 cases). In addition, there are several case reports of patients with dystonic, dyskinetic or spastic CP that were diagnosed with biallelic mutations in GCDH and biochemically corresponding features. Also, one case in a larger cohort study of patients with atypical CP (no mutation information given for this patient).; Changed rating: GREEN; Changed publications: 30542205, 26593172, 25280894, 30271473, 35822093 |
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| Additional findings_Adult v0.164 | Bryony Thompson Panel types changed to Melbourne Genomics; Australian Genomics; Royal Melbourne Hospital | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.163 | WT1 | Bryony Thompson Marked gene: WT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.163 | WT1 | Bryony Thompson Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.163 | WT1 | Bryony Thompson Classified gene: WT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.163 | WT1 | Bryony Thompson Gene: wt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.162 | WT1 |
Bryony Thompson gene: WT1 was added gene: WT1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WT1 were set to 35802134 Phenotypes for gene: WT1 were set to Wilms' tumor MIM#194070 gene: WT1 was marked as current diagnostic |
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| Additional findings_Adult v0.161 | TTR | Bryony Thompson Marked gene: TTR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.161 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.161 | TTR | Bryony Thompson Classified gene: TTR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.161 | TTR | Bryony Thompson Gene: ttr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.160 | TTR |
Bryony Thompson gene: TTR was added gene: TTR was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TTR were set to 35802134 Phenotypes for gene: TTR were set to Hereditary transthyretin-related amyloidosis MIM#105210 gene: TTR was marked as current diagnostic |
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| Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Marked gene: TNNC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Gene: tnnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Classified gene: TNNC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.159 | TNNC1 | Bryony Thompson Gene: tnnc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.158 | TNNC1 |
Bryony Thompson gene: TNNC1 was added gene: TNNC1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TNNC1 were set to 35802134 Phenotypes for gene: TNNC1 were set to Cardiomyopathy, dilated, 1Z, MIM# 611879 gene: TNNC1 was marked as current diagnostic |
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| Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Marked gene: RBM20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Gene: rbm20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Classified gene: RBM20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.157 | RBM20 | Bryony Thompson Gene: rbm20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.156 | RBM20 |
Bryony Thompson gene: RBM20 was added gene: RBM20 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBM20 were set to 35802134 Phenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD gene: RBM20 was marked as current diagnostic |
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| Additional findings_Adult v0.155 | RB1 | Bryony Thompson Marked gene: RB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.155 | RB1 | Bryony Thompson Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.155 | RB1 | Bryony Thompson Classified gene: RB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.155 | RB1 | Bryony Thompson Gene: rb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.154 | RB1 |
Bryony Thompson gene: RB1 was added gene: RB1 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380 gene: RB1 was marked as current diagnostic |
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| Additional findings_Adult v0.153 | DES | Bryony Thompson Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.153 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.153 | DES | Bryony Thompson Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.153 | DES | Bryony Thompson Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.152 | DES |
Bryony Thompson gene: DES was added gene: DES was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 35802134 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419 gene: DES was marked as current diagnostic |
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| Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Marked gene: BAG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Classified gene: BAG3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.151 | BAG3 | Bryony Thompson Gene: bag3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Adult v0.150 | BAG3 |
Bryony Thompson gene: BAG3 was added gene: BAG3 was added to Additional findings_Adult. Sources: Expert list Mode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAG3 were set to 35802134 Phenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; Myopathy, myofibrillar, 6, MIM# 612954 |
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| Cerebral Palsy v1.86 | COL4A1 | Luisa Weiss changed review comment from: More than 8 individuals reported with heterozygous mutations in COL4A2 and CP in large cohort studies. Note that some of these mutations have been inherited from one parent so incomplete penetrance is likely. In one study, it is hypothesized that COL4A2 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP.; to: More than 8 individuals reported with heterozygous mutations in COL4A1 and CP in large cohort studies. Note that some of these mutations have been inherited from one parent so incomplete penetrance is likely. In one study, it is hypothesized that COL4A1 mutations can cause vascular instability and might thus pose a risk for perinatal intracranial hemorrhage resulting in CP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.935 | NOP10 | Zornitza Stark Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Telomere syndrome MONDO:0100137 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.934 | NOP10 | Zornitza Stark Publications for gene: NOP10 were set to 17507419; 32554502 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.933 | NOP10 | Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.932 | NOP10 | Zornitza Stark edited their review of gene: NOP10: Added comment: PMID 32139460: large multiplex family with 4 affected individuals segregating a heterozygous variant.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.44 | NOP10 | Zornitza Stark Phenotypes for gene: NOP10 were changed from Dyskeratosis congenita, autosomal recessive 1, MIM#224230 to Dyskeratosis congenita, autosomal recessive 1, MIM#224230; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.43 | NOP10 | Zornitza Stark Publications for gene: NOP10 were set to 17507419 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.42 | NOP10 | Zornitza Stark Mode of inheritance for gene: NOP10 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bone Marrow Failure v1.41 | NOP10 | Zornitza Stark edited their review of gene: NOP10: Added comment: PMID 32139460: multiplex family with 4 affected individuals and heterozygous variant in NOP10.; Changed rating: AMBER; Changed publications: 17507419, 32139460; Changed phenotypes: Dyskeratosis congenita, autosomal recessive 1, MIM#224230, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9, MIM# 620400; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.932 | MFN2 | Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087; Hereditary motor and sensory neuropathy VIA, OMIM #601152 to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152; Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.931 | MFN2 | Zornitza Stark edited their review of gene: MFN2: Changed phenotypes: Charcot-Marie-Tooth disease, axonal, type 2A2A 609260, Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087, Hereditary motor and sensory neuropathy VIA, MIM# 601152, Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | DARS2 | Sangavi Sivagnanasundram reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20506600, 19592391, 33574740; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) (MIM#611105); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.183 | MEGF10 | Bryony Thompson Marked gene: MEGF10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.183 | MEGF10 | Bryony Thompson Gene: megf10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.183 | MEGF10 | Bryony Thompson Classified gene: MEGF10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.183 | MEGF10 | Bryony Thompson Gene: megf10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.182 | MEGF10 |
Bryony Thompson gene: MEGF10 was added gene: MEGF10 was added to Muscular dystrophy_Paediatric. Sources: Expert list Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MEGF10 were set to 22101682; 22371254; 23453856; 27460346 Phenotypes for gene: MEGF10 were set to MEGF10-Related Myopathy MONDO:0013731 gene: MEGF10 was marked as current diagnostic Added comment: Assigned a definitive gene-disease validity classification by the ClinGen congenital myopathy GCEP - 27/1/2020 Sources: Expert list |
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| Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Marked gene: MAN2B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Classified gene: MAN2B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.183 | MAN2B1 | Bryony Thompson Gene: man2b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.182 | MAN2B1 |
Bryony Thompson gene: MAN2B1 was added gene: MAN2B1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAN2B1 were set to 20301570 Phenotypes for gene: MAN2B1 were set to Alpha-mannosidosis MONDO:0009561 Review for gene: MAN2B1 was set to GREEN gene: MAN2B1 was marked as current diagnostic Added comment: Metabolic myopathy is a well-established feature of the condition. Sources: Expert list |
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| Muscular dystrophy and myopathy_Paediatric v0.181 | FKTN | Bryony Thompson Marked gene: FKTN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.181 | FKTN | Bryony Thompson Gene: fktn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.181 | FKTN | Bryony Thompson Phenotypes for gene: FKTN were changed from to Muscular dystrophy-dystroglycanopathy MONDO:0018276 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.180 | FKTN | Bryony Thompson Publications for gene: FKTN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.179 | FKTN | Bryony Thompson Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Marked gene: FKBP14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Classified gene: FKBP14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.178 | FKBP14 | Bryony Thompson Gene: fkbp14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.177 | FKBP14 |
Bryony Thompson gene: FKBP14 was added gene: FKBP14 was added to Muscular dystrophy_Paediatric. Sources: Literature Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FKBP14 were set to 31132235 Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome, kyphoscoliotic and deafness type MONDO:0013800 Review for gene: FKBP14 was set to GREEN gene: FKBP14 was marked as current diagnostic Added comment: Affected individuals typically present at birth with congenital hypotonia and weakness. Sources: Literature |
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| Muscular dystrophy and myopathy_Paediatric v0.176 | FAM111B | Bryony Thompson Marked gene: FAM111B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.176 | FAM111B | Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.176 | FAM111B | Bryony Thompson Classified gene: FAM111B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.176 | FAM111B | Bryony Thompson Gene: fam111b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.175 | FAM111B |
Bryony Thompson gene: FAM111B was added gene: FAM111B was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: FAM111B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAM111B were set to 27748098 Phenotypes for gene: FAM111B were set to Hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310 Mode of pathogenicity for gene: FAM111B was set to Other Review for gene: FAM111B was set to GREEN Added comment: Muscle contractures are usually seen in childhood. The majority of affected individuals develop progressive weakness of the proximal and distal muscles of all four limbs, beginning with the proximal muscles. Serum creatine kinase is either normal or slightly increased and electromyography may show a normal or myopathic pattern. The mechanism of disease is unknown, but based on the spectrum of pathogenic variants it is expected to be dominant-negative. Sources: Other |
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| Intellectual disability syndromic and non-syndromic v0.5246 | RHOBTB2 | Zornitza Stark Publications for gene: RHOBTB2 were set to 29768694; 29276004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5245 | RHOBTB2 | Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5244 | RHOBTB2 |
Zornitza Stark edited their review of gene: RHOBTB2: Added comment: PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. In addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.; Changed publications: 29768694, 29276004, 37165955; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Genetic Epilepsy v0.1864 | RHOBTB2 | Zornitza Stark Publications for gene: RHOBTB2 were set to 29768694; 29276004 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1863 | RHOBTB2 | Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1862 | RHOBTB2 |
Zornitza Stark edited their review of gene: RHOBTB2: Added comment: PMID 37165955: 16 individuals with de novo heterozygous missense variants in the BTB domain region and a severe DEE as previously reported. In addition, 6 individuals with de novo missense variants in the GTPase domain and a more variable neurodevelopmental phenotypes with or without epilepsy. In contrast to variants in the BTB domain region, variants in the GTPase domain do not impair proteasomal degradation of RHOBTB2 in vitro, indicating different functional consequences. In addition, 9 families with observed bi-allelic splice-site and truncating variants with variable neurodevelopmental phenotypes, indicating that complete loss of RHOBTB2 is pathogenic as well.; Changed publications: 29768694, 29276004, 37165955; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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| Mendeliome v1.931 | RHOBTB2 | Zornitza Stark Publications for gene: RHOBTB2 were set to 29276004; 29768694 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.930 | RHOBTB2 | Zornitza Stark Mode of pathogenicity for gene: RHOBTB2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.929 | RHOBTB2 | Zornitza Stark Mode of inheritance for gene: RHOBTB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.928 | RHOBTB2 | Zornitza Stark reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 37165955; Phenotypes: Epileptic encephalopathy, early infantile, 64, MIM#618004; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 | DM1 | Bryony Thompson Marked STR: DM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 | DM1 | Bryony Thompson Str: dm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 | DM1 | Bryony Thompson Classified STR: DM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.154 | DM1 | Bryony Thompson Str: dm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.153 | DM1 |
Bryony Thompson STR: DM1 was added STR: DM1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for STR: DM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for STR: DM1 were set to 20301344; 29325606 Phenotypes for STR: DM1 were set to Myotonic dystrophy 1 MIM#160900 Review for STR: DM1 was set to GREEN STR: DM1 was marked as clinically relevant Added comment: HGVS nomenclature: NM_001081560.2:c.*224_*226CTG[X] RNA toxic gain of function is mechanism of disease Premutation: 35-49 repeats, no clinical signs Mild: 50-~150 repeats, age of onset 20-70 yrs, clinical signs - cataracts, mild myotonia Classic: ~100-~1,000 repeats, age of onset 10-30 yrs, clinical signs - weakness, myotonia, cataracts, balding, cardiac arrhythmia Congenital: >1,000 repeats, age of onset birth-10 yrs , clinical signs - infantile hypotonia, respiratory deficits, intellectual disability, classic signs in adults Sources: Expert list |
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| Hereditary Neuropathy v0.166 | CLP1 | Sangavi Sivagnanasundram reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 24766810; Phenotypes: Pontocerebellar hypoplasia, type 10 (MIM#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 | CHKB | Bryony Thompson Marked gene: CHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 | CHKB | Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 | CHKB | Bryony Thompson Classified gene: CHKB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.152 | CHKB | Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.151 | CHKB |
Bryony Thompson gene: CHKB was added gene: CHKB was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 37011121 Phenotypes for gene: CHKB were set to megaconial type congenital muscular dystrophy MONDO:0011246; CHKB-Related Muscular Dystrophy Review for gene: CHKB was set to AMBER Added comment: 3/47 affected individuals have been diagnosed with adolescent-onset limb-girdle muscular dystrophy. 2 presented with rhabdomyolysis. 1 had mild intellectual disability. Behaviour abnormalities and dilated cardiomyopathy were not observed. Sources: Literature |
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| Rhabdomyolysis and Metabolic Myopathy v0.181 | CHKB | Bryony Thompson Phenotypes for gene: CHKB were changed from Muscular dystrophy, congenital, megaconial type MIM#602541 to megaconial type congenital muscular dystrophy MONDO:0011246; recurrent rhabdomyolysis; CHKB-Related Muscular Dystrophy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.180 | CHKB | Bryony Thompson Publications for gene: CHKB were set to 26782016 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.179 | CHKB | Bryony Thompson Classified gene: CHKB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.179 | CHKB | Bryony Thompson Gene: chkb has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.178 | CHKB | Bryony Thompson reviewed gene: CHKB: Rating: AMBER; Mode of pathogenicity: None; Publications: 37011121; Phenotypes: megaconial type congenital muscular dystrophy MONDO:0011246, recurrent rhabdomyolysis, CHKB-Related Muscular Dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.178 | CHKB | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.178 | AHCY | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.178 | AHCY | Bryony Thompson Publications for gene: AHCY were set to 28779239 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.177 | AHCY | Bryony Thompson Classified gene: AHCY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.177 | AHCY | Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | AHCY | Bryony Thompson commented on gene: AHCY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | AHCY | Bryony Thompson Deleted their review | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Marked gene: UNC45B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Classified gene: UNC45B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.150 | UNC45B | Bryony Thompson Gene: unc45b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 | SVIL | Bryony Thompson Marked gene: SVIL as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 | SVIL | Bryony Thompson Gene: svil has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 | SVIL | Bryony Thompson Classified gene: SVIL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.149 | SVIL | Bryony Thompson Gene: svil has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Marked gene: MYL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Classified gene: MYL2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.148 | MYL2 | Bryony Thompson Gene: myl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Marked gene: KY as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Gene: ky has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Classified gene: KY as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.147 | KY | Bryony Thompson Gene: ky has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Marked gene: GFER as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Gene: gfer has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Classified gene: GFER as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.176 | GFER | Bryony Thompson Gene: gfer has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Classified gene: FASTKD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Marked gene: AIFM1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Classified gene: AIFM1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.174 | AIFM1 | Bryony Thompson Gene: aifm1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.173 | AIFM1 | Bryony Thompson Mode of inheritance for gene: AIFM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AIFM1 | Sangavi Sivagnanasundram edited their review of gene: AIFM1: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Marked gene: AGK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Classified gene: AGK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.172 | AGK | Bryony Thompson Gene: agk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Marked gene: AARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Classified gene: AARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.171 | AARS2 | Bryony Thompson Gene: aars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Marked gene: ABHD5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Classified gene: ABHD5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.170 | ABHD5 | Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.169 | ABHD5 |
Bryony Thompson gene: ABHD5 was added gene: ABHD5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert list Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD5 were set to 31883530 Phenotypes for gene: ABHD5 were set to Dorfman-Chanarin disease MONDO:0010155 Review for gene: ABHD5 was set to GREEN gene: ABHD5 was marked as current diagnostic Added comment: A disorder of glycerolipid metabolism. Myopathy, identified through raised CK levels and muscle biopsy, was a commonly observed finding in 59% (86/147) cases with ABHD5 deficiency. The myopathy tends to generally be a slowly progressive muscle weakness and rarely culminates in cardiomyopathy. Sources: Expert list |
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| Hereditary Neuropathy v0.166 | ATAD3A |
Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset. |
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| Hereditary Neuropathy v0.166 | ATAD3A |
Sangavi Sivagnanasundram changed review comment from: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for bothe LoF and GoF. Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset.; to: Is a syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy. Neuropathy like phenotypes are only present in individuals with monoallelic variants in ATAD3A PMID: 27640307 5 affected individuals from 5 unrelated families with the recurrent heterozygous de novo mutation (p.Arg528Trp) with all individuals presenting with symptoms of peripheral neuropathy. Fly functional study conducted that showed a dramatic reduction in survival in the presence of the mutant protein suggesting it is highly toxic. The loss of function phenotype assiociated with bor was assessed by performing transmission electron microscopy (TEM) on the first larvae prior to their death and identified a dramatic decrease in mitochondrial content indicating a similarity in phenotype for both LoF and GoF.Therefore the mode of pathogenicity is suggestive of dominant negative. AR inheritance is due to loss of function mutations in ATAD3A and is typically infantile onset. |
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| Hereditary Neuropathy v0.166 | ATAD3A | Sangavi Sivagnanasundram reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27640307; Phenotypes: Harel-Yoon Syndrome (MIM#6173183); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | MYL1 | Sangavi Sivagnanasundram edited their review of gene: MYL1: Changed publications: 30215711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.232 | POT1 | Zornitza Stark Marked gene: POT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.232 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.232 | POT1 | Zornitza Stark Phenotypes for gene: POT1 were changed from Tumour predisposition with variety of solid and haematological malignancies reported. to Hereditary neoplastic syndrome, MONDO:0015356, POT1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.231 | POT1 | Zornitza Stark Classified gene: POT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.231 | POT1 | Zornitza Stark Gene: pot1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 | Zornitza Stark Tag cancer tag was added to gene: POT1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 | Zornitza Stark reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary neoplastic syndrome, MONDO:0015356, POT1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.230 | POT1 |
Edward Chew gene: POT1 was added gene: POT1 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POT1 were set to (PMID:27528712; PMID: 29693246; PMID: 34769003; PMID: 36467798; PMID: 33216348; PMID: 24686849; PMID:24686846; PMID: 26403419; PMID: 32492864) Phenotypes for gene: POT1 were set to Tumour predisposition with variety of solid and haematological malignancies reported. Penetrance for gene: POT1 were set to Incomplete Review for gene: POT1 was set to GREEN Added comment: CLL (PMID: 27528712, published 2016) identified 4 families with POT1 variants and CLL. Aberrant splicing of intron 13 (chromosome 7 g.124481233C.T/c.1164-1G.A) confirmed by RT-PCR. Missense p.Tyr36Cys and p.Gln376Arg predicted to be pathogenic by in silico methods. p.Gln358SerfsTer13 predicted to cause premature truncation. Hodgkin Lymphoma (PMID: 29693246, published 2018) identified 2 families with POT1 variants and Hodgkin lymphoma. p.Asp224Asn in 4 carriers with Hodgkin lymphoma. Variant validated functionally. p.Tryp26His in 2 carriers with Hodgkin lymphoma. Some functional validation performed. AML (PMID: 34769003, published 2021) identified p.Q199* in a 8yo with AML and monosomy 7. Unaffected father, de novo status of variant not confirmed. Some functional validation (but conflicting). Multiple myeloma (PMID: 36467798, published 2022) looked at inherited predisposition for multiple myeloma. Identified 4 families with POT1 variants who have myeloma, thyroid cancer, and AML. Functional validation not performed. Multiple haematological malignancies, cutaneous melanoma and solid cancers in a family from Queensland (PMID: 33216348, published 2020). The variant p.D224N has been reported and functionally validated by other authors. Cutaneous melanoma (PMID: 24686849; PMID:24686846, published in same issue of journal in 2014) identified families with strong family history of melanoma. PMID: 24686849 identified 4 families with 4 different POT1 variants. PMID 24686846 identified 5 families with same founder p.Ser270Asn variant. Functional validation of pathogenicity performed in the 2 papers. Li-Fraumeni Like syndrome (PMID: 26403419 published 2015) identified 3 families with p.R117C variant and strong family history of Li-Fraumeni Like syndrome. Variant functionally validated. Medullary thyroid cancer (PMID: 32492864 published 2020) identified 1 family with p.V29L. The variant segregates with papillary thyroid cancer. Some functional validation performed. Sources: Expert list |
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| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Marked gene: TRIP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Classified gene: TRIP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.174 | TRIP4 | Bryony Thompson Gene: trip4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Marked gene: TPM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Classified gene: TPM3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.173 | TPM3 | Bryony Thompson Gene: tpm3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Marked gene: TPM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Classified gene: TPM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.172 | TPM2 | Bryony Thompson Gene: tpm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.171 | TNNC2 | Bryony Thompson Marked gene: TNNC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.171 | TNNC2 | Bryony Thompson Gene: tnnc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.171 | TNNC2 | Bryony Thompson Classified gene: TNNC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.171 | TNNC2 | Bryony Thompson Gene: tnnc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Marked gene: STAC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Classified gene: STAC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.170 | STAC3 | Bryony Thompson Gene: stac3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.169 | SPEG | Bryony Thompson Marked gene: SPEG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.169 | SPEG | Bryony Thompson Gene: speg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.169 | SPEG | Bryony Thompson Classified gene: SPEG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.169 | SPEG | Bryony Thompson Gene: speg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Marked gene: PAX7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Classified gene: PAX7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.168 | PAX7 | Bryony Thompson Gene: pax7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.167 | NEB | Bryony Thompson Marked gene: NEB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.167 | NEB | Bryony Thompson Gene: neb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.167 | NEB | Bryony Thompson Classified gene: NEB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.167 | NEB | Bryony Thompson Gene: neb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.166 | MYPN | Bryony Thompson Marked gene: MYPN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.166 | MYPN | Bryony Thompson Gene: mypn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.166 | MYPN | Bryony Thompson Classified gene: MYPN as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.166 | MYPN | Bryony Thompson Gene: mypn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Marked gene: MYOD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Classified gene: MYOD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.165 | MYOD1 | Bryony Thompson Gene: myod1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Marked gene: MYL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Classified gene: MYL1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.164 | MYL1 | Bryony Thompson Gene: myl1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.163 | MYL1 | Bryony Thompson Publications for gene: MYL1 were set to 30275711 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Marked gene: MYBPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Classified gene: MYBPC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.162 | MYBPC1 | Bryony Thompson Gene: mybpc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Marked gene: MTMR14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Classified gene: MTMR14 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.161 | MTMR14 | Bryony Thompson Gene: mtmr14 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.928 | NFATC1 | Zornitza Stark Marked gene: NFATC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.928 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.928 | NFATC1 | Zornitza Stark Classified gene: NFATC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.928 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.927 | NFATC1 |
Zornitza Stark gene: NFATC1 was added gene: NFATC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to 37249233 Phenotypes for gene: NFATC1 were set to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency Review for gene: NFATC1 was set to AMBER Added comment: 3 individuals from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective. Single pedigree with supportive functional studies. Sources: Literature |
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| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Marked gene: NFATC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.39 | NFATC1 | Zornitza Stark Phenotypes for gene: NFATC1 were changed from Combined Immune deficiency to Inborn error of immunity, MONDO:0003778, NFATC1-related; Combined Immune deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.38 | NFATC1 | Zornitza Stark Classified gene: NFATC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.38 | NFATC1 | Zornitza Stark Gene: nfatc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.160 | MAP3K20 | Bryony Thompson Marked gene: MAP3K20 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.160 | MAP3K20 | Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.160 | MAP3K20 | Bryony Thompson Classified gene: MAP3K20 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.160 | MAP3K20 | Bryony Thompson Gene: map3k20 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.159 | LMOD3 | Bryony Thompson Marked gene: LMOD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.159 | LMOD3 | Bryony Thompson Gene: lmod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.159 | LMOD3 | Bryony Thompson Classified gene: LMOD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.159 | LMOD3 | Bryony Thompson Gene: lmod3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Marked gene: KLHL41 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Classified gene: KLHL41 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.158 | KLHL41 | Bryony Thompson Gene: klhl41 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Marked gene: KLHL40 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Classified gene: KLHL40 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.157 | KLHL40 | Bryony Thompson Gene: klhl40 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Marked gene: KBTBD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Classified gene: KBTBD13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.156 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Marked gene: HRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Classified gene: HRAS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.155 | HRAS | Bryony Thompson Gene: hras has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | EPG5 | Sangavi Sivagnanasundram edited their review of gene: EPG5: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Marked gene: HACD1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Classified gene: HACD1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.154 | HACD1 | Bryony Thompson Gene: hacd1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Marked gene: FXR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Classified gene: FXR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.153 | FXR1 | Bryony Thompson Gene: fxr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.152 | EPG5 | Bryony Thompson Marked gene: EPG5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.152 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.152 | EPG5 | Bryony Thompson Classified gene: EPG5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.152 | EPG5 | Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.151 | EPG5 | Bryony Thompson Mode of inheritance for gene: EPG5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Marked gene: DYNC1H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Classified gene: DYNC1H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.150 | DYNC1H1 | Bryony Thompson Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.149 | DNM2 | Bryony Thompson Marked gene: DNM2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.149 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.149 | DNM2 | Bryony Thompson Classified gene: DNM2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.149 | DNM2 | Bryony Thompson Gene: dnm2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.148 | DHX16 | Bryony Thompson Marked gene: DHX16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.148 | DHX16 | Bryony Thompson Gene: dhx16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.148 | DHX16 | Bryony Thompson Classified gene: DHX16 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.148 | DHX16 | Bryony Thompson Gene: dhx16 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.926 | CNTN1 | Bryony Thompson Phenotypes for gene: CNTN1 were changed from Myopathy, congenital, Compton-North 612540 to Compton-North congenital myopathy MONDO:0012929; fetal akinesia deformation sequence MONDO:0008824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Marked gene: CNTN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Classified gene: CNTN1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.147 | CNTN1 | Bryony Thompson Gene: cntn1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.925 | CNTN1 | Bryony Thompson Publications for gene: CNTN1 were set to 19026398 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.924 | CNTN1 | Bryony Thompson Classified gene: CNTN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.924 | CNTN1 | Bryony Thompson Gene: cntn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.923 | CNTN1 | Bryony Thompson reviewed gene: CNTN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026398, 10595523, 22242131, 32779773; Phenotypes: Compton-North congenital myopathy MONDO:0012929, fetal akinesia deformation sequence MONDO:0008824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2175 | PDP1 | Zornitza Stark Marked gene: PDP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2175 | PDP1 | Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2175 | PDP1 | Zornitza Stark Phenotypes for gene: PDP1 were changed from Pyruvate dehydrogenase phosphatase deficiency to Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2174 | PDP1 | Zornitza Stark Classified gene: PDP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2174 | PDP1 | Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2174 | PDP1 | Zornitza Stark Classified gene: PDP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2174 | PDP1 | Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2173 | PDP1 | Zornitza Stark reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2173 | DLAT | Zornitza Stark Marked gene: DLAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2173 | DLAT | Zornitza Stark Gene: dlat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2173 | DLAT | Zornitza Stark Classified gene: DLAT as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2173 | DLAT | Zornitza Stark Gene: dlat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2172 | DLAT |
Zornitza Stark gene: DLAT was added gene: DLAT was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency, MIM# 245348 Review for gene: DLAT was set to GREEN Added comment: Well established gene-disease association. Clinical presentation is in infancy. Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine Non-genetic confirmatory testing: enzymology Included for consistency with PDHA1/PDHX Sources: Expert Review |
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| Genomic newborn screening: BabyScreen+ v0.2171 | PDHB | Zornitza Stark Marked gene: PDHB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2171 | PDHB | Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2171 | PDHB | Zornitza Stark Classified gene: PDHB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2171 | PDHB | Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2170 | PDHB |
Zornitza Stark gene: PDHB was added gene: PDHB was added to Baby Screen+ newborn screening. Sources: Expert Review treatable, metabolic tags were added to gene: PDHB. Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111 Review for gene: PDHB was set to GREEN Added comment: Well established gene-disease association. Clinical presentation is in infancy. Treatment: ketogenic diet has a significant impact on outcome; some cases responsive to thiamine Non-genetic confirmatory testing: enzymology Included for consistency with PDHA1/PDHX Sources: Expert Review |
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| Mendeliome v1.923 | TNNT1 | Zornitza Stark Phenotypes for gene: TNNT1 were changed from Nemaline myopathy 5, Amish type, MIM# 605355; nemaline myopathy MONDO:0018958 to Nemaline myopathy 5, Amish type, MIM# 605355; Nemaline myopathy-5B with rigid spine and respiratory insufficiency (NEM5B), MIM#620386; nemaline myopathy-5C (NEM5C), autosomal dominant, MIMD620389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | TNNT1 | Zornitza Stark edited their review of gene: TNNT1: Changed phenotypes: Nemaline myopathy 5, Amish type, MIM# 605355, Nemaline myopathy-5B with rigid spine and respiratory insufficiency (NEM5B), MIM#620386, nemaline myopathy-5C (NEM5C), autosomal dominant, MIMD620389 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.130 | CHRM5 | Zornitza Stark Marked gene: CHRM5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.130 | CHRM5 | Zornitza Stark Gene: chrm5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | CHRM5 | Zornitza Stark Marked gene: CHRM5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | CHRM5 | Zornitza Stark Gene: chrm5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.9 | ACBD6 | Zornitza Stark Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.9 | ACBD6 | Zornitza Stark Gene: acbd6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.9 | ACBD6 | Zornitza Stark Classified gene: ACBD6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.9 | ACBD6 | Zornitza Stark Gene: acbd6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 | MRPL50 | Zornitza Stark Marked gene: MRPL50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 | MRPL50 | Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.311 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.875 | MRPL50 | Zornitza Stark Marked gene: MRPL50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.875 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.875 | MRPL50 | Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.875 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | MRPL50 | Zornitza Stark Marked gene: MRPL50 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | MRPL50 | Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.922 | MRPL50 | Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.921 | MRPL50 | Zornitza Stark reviewed gene: MRPL50: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease, MONDO: 004470, MRPL50-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.113 | KIF26A | Zornitza Stark Marked gene: KIF26A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.113 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.113 | KIF26A | Zornitza Stark Classified gene: KIF26A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.113 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.112 | KIF26A |
Zornitza Stark gene: KIF26A was added gene: KIF26A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN Added comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. Brain abnormalities may be detectable antenatally. Sources: Literature |
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| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Marked gene: KIF26A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Classified gene: KIF26A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.25 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Marked gene: KIF26A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Classified gene: KIF26A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.120 | KIF26A | Zornitza Stark Gene: kif26a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Osteogenesis Imperfecta and Osteoporosis v0.107 | TAPT1 | Zornitza Stark Publications for gene: TAPT1 were set to 26365339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.921 | MOS | Zornitza Stark Marked gene: MOS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.921 | MOS | Zornitza Stark Gene: mos has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.921 | MOS | Zornitza Stark Phenotypes for gene: MOS were changed from Early embryonic arrest and fragmentation; infertility to Infertility disorder, MONDO:0005047, MOS-related; Early embryonic arrest and fragmentation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v1.37 | NFATC1 |
Peter McNaughton gene: NFATC1 was added gene: NFATC1 was added to Combined Immunodeficiency. Sources: Literature Mode of inheritance for gene: NFATC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NFATC1 were set to PMID: 37249233 Phenotypes for gene: NFATC1 were set to Combined Immune deficiency Review for gene: NFATC1 was set to AMBER Added comment: 3 patients from a multigenerational consanguineous pedigree with early-onset sinopulmonary infections and bronchiectasis, recurrent viral (warts) and bacterial (folliculitis and abscesses) skin infections, hypogammaglobulinemia, lower CD4+/CD8+ T-cell ratio and lower recent thymic emigrants compared with the age-matched controls. Lymphocyte proliferation responses to PHA and CD3/CD28 stimulations were defective. Single pedigree but supportive functional studies - ?green. Sources: Literature |
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| Mendeliome v1.920 | MOS | Zornitza Stark Classified gene: MOS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.920 | MOS | Zornitza Stark Gene: mos has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Marked gene: HMGCR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Classified gene: HMGCR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.146 | HMGCR | Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.919 | HMGCR | Zornitza Stark Phenotypes for gene: HMGCR were changed from [Low density lipoprotein cholesterol level QTL 3] to autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.918 | HMGCR | Zornitza Stark Publications for gene: HMGCR were set to 18354102; 29480216 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.917 | HMGCR | Zornitza Stark Mode of inheritance for gene: HMGCR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.916 | HMGCR | Zornitza Stark Classified gene: HMGCR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.916 | HMGCR | Zornitza Stark Gene: hmgcr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5244 | MCM6 | Zornitza Stark Marked gene: MCM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5244 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.915 | MOS |
Melanie Marty gene: MOS was added gene: MOS was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MOS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MOS were set to PMID: 34779126; PMID: 34997960; PMID: 36403623; PMID: 35670744 Phenotypes for gene: MOS were set to Early embryonic arrest and fragmentation; infertility Review for gene: MOS was set to GREEN Added comment: PMID: 34779126: 3 x females with infertility with biallelic MOS variants identified. Using oocyte-specific Erk1/2 knockout mice, they verified that MOS-ERK signal pathway inactivation in oocytes caused early embryonic arrest and fragmentation. PMID: 34997960: 2 x females with biallelic MOS variants. Functional studies showed a reduction of protein for two of these variants (missense and frameshift). Functional studies also showed these variants reduced the ability of MOS to phosphorylate its downstream target, extracellular signal-regulated kinase 1/2. PMID: 35670744 1 x additional family (twins) with infertility and abnormal oocyte morphology with large first polar body. Functional studies showed the MOS variants could not activate MEK1/2 and ERK1/2 in oocytes and HEK293 cells. In addition, functional studies also showed when compared with wild-type MOS, the MOS variants decreased the MOS protein level and attenuated the binding capacity with MEK1. PMID: 36403623 1 x female with primary infertility, patient’s oocytes had a large polar body and poor embryonic development, hom missense variant in MOS identified. Sources: Literature |
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| Osteogenesis Imperfecta and Osteoporosis v0.106 | TAPT1 | Paul De Fazio reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1862 | ANK2 | Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1861 | ANK2 | Elena Savva Phenotypes for gene: ANK2 were changed from Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1860 | ANK2 | Elena Savva Phenotypes for gene: ANK2 were changed from Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 to Complex neurodevelopmental disorder, MONDO:0100038, ANK2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1859 | ANK2 | Elena Savva Marked gene: ANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1859 | ANK2 | Elena Savva Gene: ank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1859 | ANK2 | Elena Savva Classified gene: ANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1859 | ANK2 | Elena Savva Gene: ank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1858 | ANK2 | Elena Savva Classified gene: ANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1858 | ANK2 | Elena Savva Gene: ank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | TAPT1 | Ain Roesley Marked gene: TAPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | TAPT1 | Ain Roesley Gene: tapt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | TAPT1 | Ain Roesley Classified gene: TAPT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.355 | TAPT1 | Ain Roesley Gene: tapt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5244 | UNC79 | Zornitza Stark Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC79-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5243 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC79-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5243 | UNC79 | Zornitza Stark Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1857 | UNC79 | Zornitza Stark Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.915 | TAPT1 | Elena Savva Publications for gene: TAPT1 were set to 26365339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.233 | TAPT1 | Elena Savva Publications for gene: TAPT1 were set to 26365339 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.914 | UNC79 | Zornitza Stark Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC79-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.354 | TAPT1 |
Paul De Fazio gene: TAPT1 was added gene: TAPT1 was added to Cataract. Sources: Literature Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAPT1 were set to 36697720; 36652330 Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) Review for gene: TAPT1 was set to RED gene: TAPT1 was marked as current diagnostic Added comment: PMID: 36697720 - reports a patient with a biallelic frameshift variant in an infant with bilateral cateract, dysmorphic features, poor weight gain, and clinical symptoms reminiscent of osteogenesis imperfecta. A zebrafish knockout model showed aberrant lens development but no visible skeletal involvement. Sources: Literature |
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| Mendeliome v1.913 | NSUN6 | Elena Savva Classified gene: NSUN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.913 | NSUN6 | Elena Savva Gene: nsun6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.912 | NSUN6 | Elena Savva Classified gene: NSUN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.912 | NSUN6 | Elena Savva Gene: nsun6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.911 | NSUN6 | Elena Savva Marked gene: NSUN6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.911 | NSUN6 | Elena Savva Gene: nsun6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5242 | NSUN6 | Elena Savva Classified gene: NSUN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5242 | NSUN6 | Elena Savva Gene: nsun6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5241 | NSUN6 | Elena Savva Marked gene: NSUN6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5241 | NSUN6 | Elena Savva Gene: nsun6 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.911 | TAPT1 | Paul De Fazio reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1856 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.232 | TAPT1 | Paul De Fazio reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36697720, 36652330; Phenotypes: Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1856 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.911 | PRSS8 | Elena Savva Classified gene: PRSS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.911 | PRSS8 | Elena Savva Gene: prss8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.4 | PRSS8 | Elena Savva Classified gene: PRSS8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.4 | PRSS8 | Elena Savva Gene: prss8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.910 | PRSS8 | Elena Savva Marked gene: PRSS8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.910 | PRSS8 | Elena Savva Gene: prss8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1856 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.3 | PRSS8 | Elena Savva Marked gene: PRSS8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.3 | PRSS8 | Elena Savva Gene: prss8 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.527 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1855 | UNC79 | Elena Savva Classified gene: UNC79 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1855 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.910 | RNH1 | Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.527 | RNH1 | Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5241 | UNC79 | Elena Savva Classified gene: UNC79 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5241 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1855 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Complex neurodevelopmental disorder - MONDO:0100038 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.909 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.909 | RNH1 | Ain Roesley Classified gene: RNH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.909 | RNH1 | Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.908 | PRSS8 |
Lucy Spencer gene: PRSS8 was added gene: PRSS8 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: PRSS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS8 were set to 36715754 Phenotypes for gene: PRSS8 were set to ichthyosis MONDO:0019269, PRSS8-related Review for gene: PRSS8 was set to AMBER Added comment: PMID: 36715754 1 family with 3 affected sons with congenital ichthyosis, consanguineous parents. All 3 affected members are homozygous for a canonical splice in PRSS8, quantitative RT-PCR showed a significant reduction in normal PRSS8 transcript. A second family with 4 affected members (proband and 3 cousins) with ichthyosis (3 also had autism), also consanguineous. Only the proband was tested who is homozygous for a missense in PTSS8. However this patient also had a TAAR1 missense (no disease association, but the paper suggests this could be responsible for the autism phenotype- KO mice have abnormal learning behaviour). Sources: Literature |
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| Regression v0.526 | RNH1 | Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5241 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorder (MONDO:0700092), UNC70-related to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1855 | UNC79 | Elena Savva Classified gene: UNC79 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1855 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5240 | UNC79 | Elena Savva Classified gene: UNC79 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5240 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.526 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.908 | RNH1 | Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5240 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Complex neurodevelopmental disorder - MONDO:0100038 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | UNC79 | Elena Savva Marked gene: UNC79 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | UNC79 | Elena Savva Gene: unc79 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | UNC79 | Elena Savva Marked gene: UNC79 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | UNC79 | Elena Savva Gene: unc79 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.908 | UNC79 | Elena Savva Marked gene: UNC79 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.908 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.526 | RNH1 | Ain Roesley Classified gene: RNH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.526 | RNH1 | Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.908 | UNC79 | Elena Savva Phenotypes for gene: UNC79 were changed from Neurodevelopmental disorderMONDO:0700092 to Neurodevelopmental disorder (MONDO:0700092), UNC70-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ichthyosis and Porokeratosis v1.3 | PRSS8 |
Lucy Spencer gene: PRSS8 was added gene: PRSS8 was added to Ichthyosis. Sources: Literature Mode of inheritance for gene: PRSS8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRSS8 were set to 36715754 Phenotypes for gene: PRSS8 were set to ichthyosis MONDO:0019269, PRSS8-related Review for gene: PRSS8 was set to AMBER Added comment: PMID: 36715754 1 family with 3 affected sons with congenital ichthyosis, consanguineous parents. All 3 affected members are homozygous for a canonical splice in PRSS8, quantitative RT-PCR showed a significant reduction in normal PRSS8 transcript. A second family with 4 affected members (proband and 3 cousins) with ichthyosis (3 also had autism), also consanguineous. Only the proband was tested who is homozygous for a missense in PTSS8. However this patient also had a TAAR1 missense (no disease association, but the paper suggests this could be responsible for the autism phenotype- KO mice have abnormal learning behaviour). Sources: Literature |
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| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Classified gene: RNH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.907 | UNC79 | Elena Savva Classified gene: UNC79 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.907 | UNC79 | Elena Savva Gene: unc79 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.906 | NSUN6 |
Michelle Torres gene: NSUN6 was added gene: NSUN6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN6 were set to 37226891 Phenotypes for gene: NSUN6 were set to neurodevelopmental disorder MONDO:0700092, NSUN6-related Review for gene: NSUN6 was set to AMBER Added comment: Three unrelated consanguineous families with developmental delay, intellectual disability, motor delay, and behavioral anomalies. WES detected homozygous variants: - p.(Leu9Glufs*3): even though authors say is is predicted to cause NMD, it actually is NMD escape. No further studies were performed. A deceased affected sibling and parents were NOT tested. - p.(Asp323Asn): Shown to result in a misfolded protein. Methylation assay showed mutant could not catalyze m5C deposition in transcribed tRNACys and tRNAThr substrates in vitro. One of the parents and both unaffected siblings were shown to be carriers. - p.(Glu441Profs*15): truncation (full protein is 470aa) which would result in loss of residues involved in recognition and methylation. Shown to result in a misfolded protein. Parents were shown carriers. Sources: Literature |
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| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.27 | TOPORS | Zornitza Stark Phenotypes for gene: TOPORS were changed from Joubert syndrome, MONDO:0018772, TOPORS-related to Joubert syndrome, MONDO:0018772, TOPORS-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.525 | RNH1 | Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Marked gene: TOPORS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Tag founder tag was added to gene: TOPORS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Classified gene: RNH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Gene: rnh1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1854 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417; 37191094 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.26 | TOPORS | Zornitza Stark Phenotypes for gene: TOPORS were changed from macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay to Joubert syndrome, MONDO:0018772, TOPORS-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | NSUN6 |
Michelle Torres gene: NSUN6 was added gene: NSUN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN6 were set to 37226891 Phenotypes for gene: NSUN6 were set to neurodevelopmental disorder MONDO:0700092, NSUN6-related Review for gene: NSUN6 was set to AMBER Added comment: Three unrelated consanguineous families with developmental delay, intellectual disability, motor delay, and behavioral anomalies. WES detected homozygous variants: - p.(Leu9Glufs*3): even though authors say is is predicted to cause NMD, it actually is NMD escape. No further studies were performed. A deceased affected sibling and parents were NOT tested. - p.(Asp323Asn): Shown to result in a misfolded protein. Methylation assay showed mutant could not catalyze m5C deposition in transcribed tRNACys and tRNAThr substrates in vitro. One of the parents and both unaffected siblings were shown to be carriers. - p.(Glu441Profs*15): truncation (full protein is 470aa) which would result in loss of residues involved in recognition and methylation. Shown to result in a misfolded protein. Parents were shown carriers. Sources: Literature |
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| Genetic Epilepsy v0.1853 | RNH1 | Ain Roesley Publications for gene: RNH1 were set to PMID: 36935417 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.25 | TOPORS | Zornitza Stark Classified gene: TOPORS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.25 | TOPORS | Zornitza Stark Gene: topors has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1853 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1853 | UNC79 | Krithika Murali edited their review of gene: UNC79: Changed phenotypes: Neurodevelopmental disorder - MONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.906 | HMGCR | Naomi Baker reviewed gene: HMGCR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37167966, 36745799; Phenotypes: autosomal recessive limb-girdle muscular dystrophy (MONDO: 0015152), HMGCR-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1853 | RNH1 | Ain Roesley Phenotypes for gene: RNH1 were changed from Neurodevelopmental disorder, MONDO:0700092, RNH1-related to Neurodevelopmental disorder, MONDO:0700092, RNH1-related; encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1853 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity on chromosome 9 that includes the TOPORS gene was found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5239 | UNC79 | Krithika Murali edited their review of gene: UNC79: Changed phenotypes: Neurodevelopmental disorderMONDO:0700092 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.145 | HMGCR |
Naomi Baker gene: HMGCR was added gene: HMGCR was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: HMGCR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCR were set to PMID: 37167966; 36745799 Phenotypes for gene: HMGCR were set to autosomal recessive limb-girdle muscular dystrophy (MONDO:0015152), HMGCR-related Review for gene: HMGCR was set to GREEN Added comment: PMID: 37167966 reports nine affected individuals from five unrelated families with hypomorphic biallelic variants. Clinical presentations ranges from 4 months to 10 years, and included hydrops, delayed delayed motor milestones, prominent calves, and neck weakness. Seven missense identified, one in-frame deletion and one non-canonical splice variant. Functional studies of three missense variants demonstrated reduced exhibit significant enzymatic activity impairment relative to wild-type (WT) HMGCR protein. PMID: 36745799 also reports a homozygous loss-of-function missense variant. Sources: Literature |
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| Genetic Epilepsy v0.1853 | U2AF2 | Elena Savva Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.906 | UNC79 |
Krithika Murali gene: UNC79 was added gene: UNC79 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC79 were set to PMID:37183800 Phenotypes for gene: UNC79 were set to Neurodevelopmental disorderMONDO:0700092 Review for gene: UNC79 was set to AMBER Added comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1. Patients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified. Phenotypic features included: - 4/6 autistic features - 5/6 patients mild-moderate ID - 4/6 behavioural issues (aggression, stereotypies) - 4/6 epilepsy (focal to bilateral tonic-clonic seizures) - 5/6 hypotonia unc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains. Unc79 haploinsufficiency associated with deficiency in hippocampal-dependent learning and memory in mice. Authors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder including ASD. Amber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. Sources: Literature |
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| Callosome v0.491 | U2AF2 | Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.491 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1853 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.490 | U2AF2 | Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.490 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes (0 homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Callosome v0.490 | U2AF2 | Elena Savva Classified gene: U2AF2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.490 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | NPR1 | Zornitza Stark Marked gene: NPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.906 | U2AF2 | Elena Savva Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore changed review comment from: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. Sources: Literature; to: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Regions of homozygosity found in these three probands. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, showed 20 heterozygotes ) ) homozygotes) and supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. This is in contrast to 9/152,230 in GnomAD v3.1; allele frequency 0.00005912). Four of these individuals are of African/African-American descent (4/41468; allele frequency 0.00009646) and five are of Latino/Admixed American ancestry (5/15292; allele frequency 0.00032697). Sources: Literature |
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| Mendeliome v1.905 | U2AF2 | Elena Savva Publications for gene: U2AF2 were set to 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | UNC79 |
Krithika Murali gene: UNC79 was added gene: UNC79 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC79 were set to PMID:37183800 Phenotypes for gene: UNC79 were set to Complex neurodevelopmental disorder - MONDO:0100038 Review for gene: UNC79 was set to AMBER Added comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1. Patients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified. Phenotypic features included: - 4/6 autistic features - 5/6 patients mild-moderate ID - 4/6 behavioural issues (aggression, stereotypies) - 4/6 epilepsy (focal to bilateral tonic-clonic seizures) - 5/6 hypotonia unc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains. Unc79 haploinsufficiency associated with deficiency in hippocampal-dependent learning and memory in mice. Authors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder including ASD. Amber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. Sources: Literature |
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| Mendeliome v1.905 | U2AF2 | Elena Savva Classified gene: U2AF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.905 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Publications for gene: U2AF2 were set to 34112922 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.287 | U2AF2 | Elena Savva Classified gene: U2AF2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.287 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrocephalus_Ventriculomegaly v0.119 | KIF26A |
Belinda Chong gene: KIF26A was added gene: KIF26A was added to Hydrocephalus_Ventriculomegaly. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic Added comment: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. Sources: Literature |
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| Callosome v0.489 | U2AF2 | Elena Savva Marked gene: U2AF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Callosome v0.489 | U2AF2 | Elena Savva Gene: u2af2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.286 | U2AF2 | Elena Savva Marked gene: U2AF2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.286 | U2AF2 | Elena Savva Gene: u2af2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong changed review comment from: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature; to: Five individuals from two families each with a different homozygous truncating variant in KIF26A segregating with profound ENS dysfunction that manifested clinically like Hirschsprung’s disease despite normal ganglionosis. Moreover, they all have neurological involvement with brain malformations ranging from ventriculomegaly to severe congenital hydrocephalus in two siblings who died early in life. Clinically, they displayed developmental delay and, in the longest surviving individual, spastic paraplegia. |
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| Hydrops fetalis v0.302 | NPR1 | Zornitza Stark Classified gene: NPR1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Classified gene: U2AF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | BICD2 | Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.302 | BICD2 | Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.301 | BICD2 |
Ee Ming Wong changed review comment from: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature; to: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual was not determined to have hydrops. Sources: Literature |
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| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Classified gene: U2AF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1852 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.301 | BICD2 | Ain Roesley Classified gene: BICD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.301 | BICD2 | Ain Roesley Gene: bicd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 | Ain Roesley Marked gene: BICD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 | Ain Roesley Gene: bicd2 has been removed from the panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5239 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | UNC79 |
Krithika Murali gene: UNC79 was added gene: UNC79 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UNC79 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: UNC79 were set to PMID:37183800 Phenotypes for gene: UNC79 were set to Complex neurodevelopmental disorder - MONDO:0100038 Review for gene: UNC79 was set to AMBER Added comment: PMID:37183800 Bayat et al 2023 report 6 unrelated patients with heterozygous NMD-predicted LoF variants in UNC79 - x1 canonical splice site variant, x5 nonsense/frameshift. 5 were confirmed de novo, 1 not identified in mother - father unavailable for testing. All variants absent in gnomAD and v2 pLI score for UNC79 is 1. Patients with UNC79 variants were identified through GeneMatcher or an international network of Epilepsy and Genetics departments. x1 patient underwent duo exome sequencing, remaining had trio exome sequencing - no other causative variants identified. Phenotypic features included: - 4/6 autistic features - 5/6 patients mild-moderate ID - 4/6 behavioural issues (aggression, stereotypies) - 4/6 epilepsy (focal to bilateral tonic-clonic seizures) - 5/6 hypotonia unc79 knockdown drosophila flies exhibited significantly higher rate of seizure-like behaviour than controls. unc79 haploinsufficiency shown to lead to significant reduction in protein levels of both unc79 and unc80 in mouse brains anddeficiency in hippocampal-dependent learning and memory in mice. Authors have reviewed their own evidence in relation to the gene-disease criteria detailed by Strande et al 2017 and note that their clinical and experimental data provides moderate-level evidence supporting the association between UNC79 and a neurodevelopment disorder including ASD. Evidence emerging is promising, however Amber association favoured due to clinical phenotypic range reported between affected individuals and their lack of specificity. Sources: Literature |
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| Mendeliome v1.904 | NPR1 | Zornitza Stark Marked gene: NPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.904 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5237 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5237 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.904 | NPR1 | Zornitza Stark Classified gene: NPR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.904 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Classified gene: POU3F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v1.14 | NPR1 | Zornitza Stark Marked gene: NPR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v1.14 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | MRPL50 |
Anna Ritchie gene: MRPL50 was added gene: MRPL50 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL50 were set to PMID: 37148394 Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. Sources: Literature |
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| Hypertension and Aldosterone disorders v1.14 | NPR1 | Zornitza Stark Classified gene: NPR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertension and Aldosterone disorders v1.14 | NPR1 | Zornitza Stark Gene: npr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary Ovarian Insufficiency_Premature Ovarian Failure v0.310 | MRPL50 |
Anna Ritchie gene: MRPL50 was added gene: MRPL50 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL50 were set to PMID: 37148394 Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related Review for gene: MRPL50 was set to AMBER Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5236 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | ANK2 |
Karina Sandoval gene: ANK2 was added gene: ANK2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANK2 were set to PMID:37195288 Phenotypes for gene: ANK2 were set to Epilepsy, MONDO:0005027, Complex neurodevelopmental disorder, MONDO:0100038 Review for gene: ANK2 was set to GREEN Added comment: Paper included 12 individuals with LoF variants. 11 were confirmed de novo. Paper found broad NND comprising of ID, ASD and early onset epilepsy, both mild and severed ID & epilepsy. Variants included 4 nonsense, 3 fs, 3 canonical splice, and 2 partial gene dels. Early childhood epilepsy was reported in 7 of 12 patients. 4 patients had neonatal onset epilepsy. 1 patient had bilateral tonic-clinic seizures at 3 years of age. Another patient had focal epilepsy with focal motor seizures. Sources: Literature |
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| Mitochondrial disease v0.874 | MRPL50 |
Anna Ritchie gene: MRPL50 was added gene: MRPL50 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL50 were set to PMID: 37148394 Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related Review for gene: MRPL50 was set to AMBER Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction. Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls. Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants. Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5238 | POU3F2 | Ain Roesley Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5238 | ACBD6 | Elena Savva Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5238 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5238 | MCM6 | Zornitza Stark Classified gene: MCM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5238 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.24 | KIF26A |
Belinda Chong gene: KIF26A was added gene: KIF26A was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF26A were set to 36564622 Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, MIM# 620156 Review for gene: KIF26A was set to GREEN gene: KIF26A was marked as current diagnostic Added comment: Two unrelated families each segregating a different homozygous truncating variant in KIF26A with a unique constellation of severe megacolon that resembles Hirschsprung’s disease but lacks aganglionosis as well as brain malformations that range from severe to mild. The intestinal phenotype bears a striking resemblance to that observed in Kif26a−/− mice where KIF26A deficiency was found to cause abnormal GDNF-Ret signaling resulting in failure to establish normal neuronal networks despite myenteric neuronal hyperplasia. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5238 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5238 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5237 | POU3F2 | Ain Roesley Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v1.8 | ACBD6 |
Lucy Spencer gene: ACBD6 was added gene: ACBD6 was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 36457943; 21937992; 35446914 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related Review for gene: ACBD6 was set to AMBER Added comment: PMID: 36457943 2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift. This paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5237 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | MCM6 | Zornitza Stark Classified gene: MCM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | MCM6 | Zornitza Stark Classified gene: MCM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | POU3F2 | Ain Roesley Marked gene: POU3F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | ACBD6 | Elena Savva Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5237 | POU3F2 | Ain Roesley Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | ACBD6 | Elena Savva Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | POU3F2 | Ain Roesley Classified gene: POU3F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.903 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Joubert syndrome and other neurological ciliopathies v1.24 | TOPORS |
Hazel Phillimore gene: TOPORS was added gene: TOPORS was added to Joubert syndrome and other neurological ciliopathies. Sources: Literature Mode of inheritance for gene: TOPORS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOPORS were set to PMID: 37227088; 34132027 Phenotypes for gene: TOPORS were set to macrocephaly; hypertelorism; down-slanting palpebral fissures; ptosis; polydactyly; respiratory failure; severe developmental delay Review for gene: TOPORS was set to AMBER Added comment: Homozygous c.29C > A; p.(Pro10Gln)) was identified in one proband with Joubert syndrome, of Dominican descent. Two other probands have been previously reported of Dominican descent with the ciliopathy oral-facial-digital syndrome by the same authors (PMID: 34132027; Strong, A, et al. (2021) American Journal of Medical Genetics. Part A, 185(8):2409–2416. Clinical overlap between these phenotypes; therefore, the authors are proposing this as a candidate for Joubert syndrome. Appears to be a founder variant in individuals of Dominican descent. Query of the Mount Sinai BioMebiobank, which includes 1880 individuals of Dominican ancestry, supports a high carrier frequency of the TOPORS p.(Pro10Gln) variant in individuals of Dominican descent. Regions of homozygosity found in these three probands. Sources: Literature |
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| Callosome v0.489 | U2AF2 |
Paul De Fazio gene: U2AF2 was added gene: U2AF2 was added to Callosome. Sources: Literature Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) Review for gene: U2AF2 was set to AMBER gene: U2AF2 was marked as current diagnostic Added comment: 4 patients with de novo missense variants reported, of which 2 had hypoplastic corpus callosum (PMID: 34112922, 36747105). Sources: Literature |
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| Mendeliome v1.902 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.902 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.902 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.902 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.901 | ACBD6 | Elena Savva Marked gene: ACBD6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.901 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5237 | POU3F2 | Ain Roesley Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.901 | POU3F2 | Ain Roesley Phenotypes for gene: POU3F2 were changed from Autism spectrum disorder, NDD, and adolescent-onset obesity to Autism spectrum disorder, NDD, and adolescent-onset obesity; neurodevelopmental disorder MONDO:0700092, POU3F2-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.901 | ACBD6 | Elena Savva Classified gene: ACBD6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.901 | ACBD6 | Elena Savva Gene: acbd6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Leukodystrophy v0.286 | U2AF2 |
Paul De Fazio gene: U2AF2 was added gene: U2AF2 was added to Leukodystrophy - paediatric. Sources: Literature Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: U2AF2 were set to 34112922; 37092751; 36747105; 37134193 Phenotypes for gene: U2AF2 were set to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) Review for gene: U2AF2 was set to RED gene: U2AF2 was marked as current diagnostic Added comment: 4 patients with de novo missense variants reported, however only one report (PMID: 37134193) of hymomyelinating leukodystrophy. Sources: Literature |
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| Mendeliome v1.901 | MCM6 | Zornitza Stark Publications for gene: MCM6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | NPR1 |
Lilian Downie changed review comment from: single family (4 affected infants) with neonatal hypertension/cardiogenic shock 3/4 sibs had NT >3.5 Sources: Literature; to: single family (4 affected infants) with neonatal hypertension/cardiogenic shock 3/4 sibs had NT >3.5 a slight reduction in the expected number of homozygous Npr1 knockout mutant mice was statistically significant and is related to fetal hydrops observed in approximately 10% of homozygous embryos Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5235 | POU3F2 | Ain Roesley Classified gene: POU3F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Marked gene: POU3F2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | U2AF2 | Elena Savva Classified gene: U2AF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | RNH1 | Dean Phelan reviewed gene: RNH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37191094; Phenotypes: encephalopathy, acute, infection-induced (MONDO:0000166), RNH1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.900 | MCM6 | Zornitza Stark Phenotypes for gene: MCM6 were changed from Lactase persistence/nonpersistence 223100 to Neurodevelopmental disorder, MONDO:0700092, MCM6-related; Lactase persistence/nonpersistence 223100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | BICD2 |
Ee Ming Wong gene: BICD2 was added gene: BICD2 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: BICD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BICD2 were set to 37173812 Phenotypes for gene: BICD2 were set to Spinal muscular atrophy, lower extremity-predominant 2B, prenatal-onset (MIM#609797) Review for gene: BICD2 was set to AMBER gene: BICD2 was marked as current diagnostic Added comment: - Fetus with severe hydrops fetalis (hydrops, hypoplastic lungs, fixed flexion deformities). Neuropathology suggests congenital myopathy or dystrophic process - Confirmed to be de novo for a missense variant in BICD2 - Authors referenced a previous publication as additional evidence for BICD2 association with hydrops (PMID: 28635954). However, based on phenotypic information provided by Storbeck et al (2017) the reported individual did not have hydrops. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Classified gene: POU3F2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5236 | POU3F2 | Ain Roesley Gene: pou3f2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.207 | MCM6 | Zornitza Stark Classified gene: MCM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.207 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | U2AF2 | Elena Savva Phenotypes for gene: U2AF2 were changed from Neurodevelopmental disorder MONDO:0700092, MMGT1-related to Neurodevelopmental disorder, U2AF2-related (MONDO:0700092) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.899 | MCM6 | Zornitza Stark Classified gene: MCM6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.899 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.206 | MCM6 | Zornitza Stark Marked gene: MCM6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.898 | NPR1 |
Lilian Downie gene: NPR1 was added gene: NPR1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR1 were set to PMID: 37080586 Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512 Review for gene: NPR1 was set to GREEN Added comment: 4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero RT-PCR shows dramatic reduction of RNA levels 2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock, Sources: Literature |
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| Microcephaly v1.206 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.206 | MCM6 | Zornitza Stark Classified gene: MCM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.206 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | U2AF2 | Elena Savva Publications for gene: U2AF2 were set to 33057194 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.206 | MCM6 | Zornitza Stark Classified gene: MCM6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.206 | MCM6 | Zornitza Stark Gene: mcm6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | U2AF2 | Elena Savva Classified gene: U2AF2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5235 | U2AF2 | Elena Savva Gene: u2af2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | NPR1 |
Lilian Downie gene: NPR1 was added gene: NPR1 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR1 were set to PMID: 37080586 Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512 Review for gene: NPR1 was set to RED Added comment: single family (4 affected infants) with neonatal hypertension/cardiogenic shock 3/4 sibs had NT >3.5 Sources: Literature |
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| Mendeliome v1.898 | POU3F2 |
Sarah Pantaleo gene: POU3F2 was added gene: POU3F2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POU3F2 were set to PMID: 37207645 Phenotypes for gene: POU3F2 were set to Autism spectrum disorder, NDD, and adolescent-onset obesity Penetrance for gene: POU3F2 were set to unknown Mode of pathogenicity for gene: POU3F2 was set to Other Review for gene: POU3F2 was set to GREEN Added comment: We associate ultra-rare variants in POU3F2, encoding a central nervous system transcription factor, with syndromic obesity and neurodevelopment delay in 12 individuals. Demonstrate variant pathogenicity through in vitro analysis. Used exome sequencing, GeneMatcher and Genomics England 100,000 Genomes Project rare disease database. Both truncating and missense variants in over 10 individuals sharing autism spectrum disorder, NDD, and adolescent-onset obesity (may have had other features eg. CAKUT in 2 individuals, diabetes in two) . Affected individuals presented with low-to-normal birth weight and infantile feeding difficulties but developed insulin resistance and hyperplasia during childhood. With the exception of an early truncating variant, the variants showed adequate nuclear translocation but overall disturbed DNA-binding ability and promoter activation. Variants absent from population and clinical databases. Almost all constituted putatively non-inherited de novo variants (8/10). Functional studies provide evidence for loss of function in eight and gain of function in one obesity-associated POU3F2 variant. One variant did not impact POU3F2-promoter activation, leaving the possibility for further path-mechanisms. Sources: Literature |
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| Hypertension and Aldosterone disorders v1.13 | NPR1 |
Lilian Downie gene: NPR1 was added gene: NPR1 was added to Hypertension and Aldosterone disorders. Sources: Literature Mode of inheritance for gene: NPR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR1 were set to PMID: 37080586 Phenotypes for gene: NPR1 were set to Genetic hypertension MONDO:0015512 Review for gene: NPR1 was set to GREEN Added comment: 4 sibs with systemic hypertension in the neonatal period - presenting with cardiogenic shock, with homozygous variants (consanguineous parents), parents confirmed heterozygotes. 3/4 infants had increased NT (>3.5) in utero RT-PCR shows dramatic reduction of RNA levels 2 sibs in a second family, normal NT and pregnancy, neonatal systematic hypertension presenting with cardiogenic shock, Sources: Literature |
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| Mendeliome v1.898 | MAP4K4 | Zornitza Stark Mode of inheritance for gene: MAP4K4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.897 | ACBD6 |
Lucy Spencer gene: ACBD6 was added gene: ACBD6 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 36457943; 21937992; 35446914 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related Review for gene: ACBD6 was set to GREEN Added comment: PMID: 36457943 2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift. This paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 Sources: Literature |
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| Mendeliome v1.897 | MAP4K4 | Zornitza Stark Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.897 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.896 | U2AF2 | Paul De Fazio reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922, 37092751, 36747105, 37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.896 | MAP4K4 | Zornitza Stark edited their review of gene: MAP4K4: Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies.; Changed rating: GREEN; Changed publications: 37126546; Changed phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5234 | ACBD6 |
Lucy Spencer gene: ACBD6 was added gene: ACBD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACBD6 were set to 36457943; 21937992; 35446914 Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder (MONDO#0700092), ACBD6-related Review for gene: ACBD6 was set to GREEN Added comment: PMID: 36457943 2 siblings with a neurodevelopmental disorder: severely delayed development, obesity, pancytopenia, diabetes, liver cirrhosis, intravertebral disc herniation, mild brain atrophy. Consanguineous family both siblings found to have a homozygous frameshift. This paper also mentioned 3 other reported variants in 6 individuals (only 3 unrelated) all homozygous, 2 frameshift, 1 canonical splice. All reported to have a neurodevelopmental disorder, some with limited information but one family also has obesity, spasticity, and dysmorphism. PMIDs: 21937992, 35446914 Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5234 | POU3F2 | Sarah Pantaleo commented on gene: POU3F2: Both loss of function and gain of function demonstrated | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.111 | MAP4K4 | Zornitza Stark Marked gene: MAP4K4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.111 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5234 | U2AF2 | Paul De Fazio edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5234 | POU3F2 |
Sarah Pantaleo gene: POU3F2 was added gene: POU3F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: POU3F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POU3F2 were set to PMID: 37207645 Phenotypes for gene: POU3F2 were set to Autism spectrum disorder, NDD, and adolescent-onset obesity Penetrance for gene: POU3F2 were set to unknown Mode of pathogenicity for gene: POU3F2 was set to Other Review for gene: POU3F2 was set to GREEN Added comment: We associate ultra-rare variants in POU3F2, encoding a central nervous system transcription factor, with syndromic obesity and neurodevelopment delay in 12 individuals. Demonstrate variant pathogenicity through in vitro analysis. Used exome sequencing, GeneMatcher and Genomics England 100,000 Genomes Project rare disease database. Both truncating and missense variants in over 10 individuals sharing autism spectrum disorder, NDD, and adolescent-onset obesity (may have had other features eg. CAKUT in 2 individuals, diabetes in two) . Affected individuals presented with low-to-normal birth weight and infantile feeding difficulties but developed insulin resistance and hyperplasia during childhood. With the exception of an early truncating variant, the variants showed adequate nuclear translocation but overall disturbed DNA-binding ability and promoter activation. Variants absent from population and clinical databases. Almost all constituted putatively non-inherited de novo variants (8/10). Functional studies provide evidence for loss of function in eight and gain of function in one obesity-associated POU3F2 variant. One variant did not impact POU3F2-promoter activation, leaving the possibility for further path-mechanisms. Sources: Literature |
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| Genetic Epilepsy v0.1851 | U2AF2 | Paul De Fazio edited their review of gene: U2AF2: Changed publications: 34112922, 37092751, 36747105, 37134193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1851 | U2AF2 | Paul De Fazio reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.111 | MAP4K4 | Zornitza Stark Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.111 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5234 | U2AF2 | Paul De Fazio edited their review of gene: U2AF2: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder, U2AF2-related (MONDO:0700092); Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.110 | MAP4K4 |
Zornitza Stark gene: MAP4K4 was added gene: MAP4K4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to 37126546 Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related Review for gene: MAP4K4 was set to GREEN Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5234 | U2AF2 | Paul De Fazio reviewed gene: U2AF2: Rating: ; Mode of pathogenicity: None; Publications: 34112922,37092751,36747105,37134193; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5234 | MAP4K4 | Zornitza Stark Phenotypes for gene: MAP4K4 were changed from to RASopathy, MONDO:0021060, MAP4K4-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.896 | CHRM5 |
Elena Savva gene: CHRM5 was added gene: CHRM5 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM5 were set to 37213061 Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Review for gene: CHRM5 was set to RED Added comment: PMID: 37213061 - homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4). - Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity. - ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. - Transfected CHO line showed no effect on receptor expression - Described a mouse K/O as having a bladder overactivity No hom PTCs in gnomAD Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5233 | MAP4K4 | Zornitza Stark Mode of inheritance for gene: MAP4K4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.130 | CHRM5 |
Elena Savva gene: CHRM5 was added gene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM5 were set to 37213061 Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Review for gene: CHRM5 was set to RED Added comment: PMID: 37213061 - homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4). - Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity. - ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. - Transfected CHO line showed no effect on receptor expression - Described a mouse K/O as having a bladder overactivity No hom PTCs in gnomAD Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5233 | MAP4K4 | Zornitza Stark Mode of inheritance for gene: MAP4K4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital anomalies of the kidney and urinary tract (CAKUT) v0.130 | CHRM5 |
Elena Savva gene: CHRM5 was added gene: CHRM5 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature Mode of inheritance for gene: CHRM5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRM5 were set to 37213061 Phenotypes for gene: CHRM5 were set to Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Review for gene: CHRM5 was set to RED Added comment: PMID: 37213061 - homozygous missense p.(Q184R) in a proband with neurogenic bladder and CAKUT. Additional features were small trabeculated urinary bladder, bilateral severe hydronephrosis, grade V VUR right, chronic kidney disease (stage 4). - Radioligand binding experiments were inconclusive - the missense variant had no effect on receptor expression or binding affinity. - ACh binding assay did show a 2-fold increase (borderline significant), but no effect in secondary messenger accumulation. - Transfected CHO line showed no effect on receptor expression - Described a mouse K/O as having a bladder overactivity No hom PTCs in gnomAD Sources: Literature |
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| Congenital Heart Defect v0.283 | MAP4K4 | Zornitza Stark Marked gene: MAP4K4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.283 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.283 | MAP4K4 | Zornitza Stark Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.283 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Heart Defect v0.282 | MAP4K4 |
Zornitza Stark gene: MAP4K4 was added gene: MAP4K4 was added to Congenital Heart Defect. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to 37126546 Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related Review for gene: MAP4K4 was set to GREEN Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5232 | MAP4K4 | Zornitza Stark Publications for gene: MAP4K4 were set to 37126546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5232 | MAP4K4 | Zornitza Stark Publications for gene: MAP4K4 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5231 | MAP4K4 | Zornitza Stark Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5231 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5230 | MAP4K4 | Zornitza Stark commented on gene: MAP4K4: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.99 | MAP4K4 | Zornitza Stark Marked gene: MAP4K4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.99 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5230 | MAP4K4 | Zornitza Stark edited their review of gene: MAP4K4: Changed rating: GREEN; Changed publications: 37126546; Changed phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.895 | SLC26A1 | Ain Roesley reviewed gene: SLC26A1: Rating: RED; Mode of pathogenicity: None; Publications: 36719378; Phenotypes: perichondritis, hyposulphatemia, renal sulphate wasting; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.99 | MAP4K4 | Zornitza Stark Classified gene: MAP4K4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.99 | MAP4K4 | Zornitza Stark Gene: map4k4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rasopathy v0.98 | MAP4K4 |
Zornitza Stark gene: MAP4K4 was added gene: MAP4K4 was added to Rasopathy. Sources: Literature Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP4K4 were set to 37126546 Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related Review for gene: MAP4K4 was set to GREEN Added comment: 26 individuals from 21 families reported with Rasopathy-like phenotype, comprising ID/DD, dysmorphic features and congenital anomalies. Sources: Literature |
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| Microcephaly v1.205 | MCM6 |
Suliman Khan changed review comment from: Sources: Literature; to: PMID: 37198333 reported 5 unrelated families with de novo variants in MCM6 gene. Two patients with the same missense variant p.(Cys158Tyr) in zinc finger domain presented with intra-uterine growth retardation, short stature, congenital microcephaly, endocrine features, developmental delay and urogenital anomalies. In other three unrelated individuals different de novo missense variants were identified in the oligo nucleotide binding (OB)-fold domain. These patients had variable neurodevelopmental features including autism spectrum disorder, developmental delay, and epilepsy. The clinical features and functional defects related to the zinc binding residue resembled those observed in syndromes related to other MCM components and DNA replication factors (Meier–Gorlin syndrome and Seckel syndrome), while de novo OB-fold domain missense variants were associated with more variable neurodevelopmental phenotypes (PMID: 37198333). Sources: Literature |
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| Microcephaly v1.205 | MCM6 |
Suliman Khan gene: MCM6 was added gene: MCM6 was added to Microcephaly. Sources: Literature Mode of inheritance for gene: MCM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MCM6 were set to PMID: 37198333 Phenotypes for gene: MCM6 were set to Neurodevelopmental disorder, MONDO:0700092, MCM6-related Review for gene: MCM6 was set to AMBER Added comment: Sources: Literature |
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| Intellectual disability syndromic and non-syndromic v0.5230 | MCM6 |
Suliman Khan gene: MCM6 was added gene: MCM6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: MCM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MCM6 were set to PMID: 37198333 Phenotypes for gene: MCM6 were set to Neurodevelopmental disorder, MONDO:0700092, MCM6-related Review for gene: MCM6 was set to GREEN Added comment: PMID: 37198333 reported 5 unrelated families with de novo variants in MCM6 gene. Two patients with the same missense variant p.(Cys158Tyr) in zinc finger domain presented with intra-uterine growth retardation, short stature, congenital microcephaly, endocrine features, developmental delay and urogenital anomalies. In other three unrelated individuals different de novo missense variants were identified in the oligo nucleotide binding (OB)-fold domain. These patients had variable neurodevelopmental features including autism spectrum disorder, developmental delay, and epilepsy. The clinical features and functional defects related to the zinc binding residue resembled those observed in syndromes related to other MCM components and DNA replication factors (Meier–Gorlin syndrome and Seckel syndrome), while de novo OB-fold domain missense variants were associated with more variable neurodevelopmental phenotypes (PMID: 37198333). Sources: Literature |
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| Genomic newborn screening: BabyScreen+ v0.2169 | TUBB4B | Zornitza Stark Marked gene: TUBB4B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2169 | TUBB4B | Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2169 | TUBB4B | Zornitza Stark Classified gene: TUBB4B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2169 | TUBB4B | Zornitza Stark Gene: tubb4b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2168 | SUFU | Zornitza Stark Marked gene: SUFU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2168 | SUFU | Zornitza Stark Gene: sufu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2168 | SUFU | Zornitza Stark Classified gene: SUFU as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2168 | SUFU | Zornitza Stark Gene: sufu has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2167 | SLITRK6 | Zornitza Stark Marked gene: SLITRK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2167 | SLITRK6 | Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2167 | SLITRK6 | Zornitza Stark Tag deafness tag was added to gene: SLITRK6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2167 | SLITRK6 | Zornitza Stark Classified gene: SLITRK6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2167 | SLITRK6 | Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2166 | PAX5 | Zornitza Stark Marked gene: PAX5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2166 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2166 | PAX5 | Zornitza Stark Classified gene: PAX5 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2166 | PAX5 | Zornitza Stark Gene: pax5 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2165 | GREB1L | Zornitza Stark Tag deafness tag was added to gene: GREB1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2165 | MPZL2 | Zornitza Stark Marked gene: MPZL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2165 | MPZL2 | Zornitza Stark Gene: mpzl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2165 | MPZL2 | Zornitza Stark Classified gene: MPZL2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2165 | MPZL2 | Zornitza Stark Gene: mpzl2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2164 | LMX1A | Zornitza Stark Marked gene: LMX1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2164 | LMX1A | Zornitza Stark Gene: lmx1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2164 | LMX1A | Zornitza Stark Classified gene: LMX1A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2164 | LMX1A | Zornitza Stark Gene: lmx1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2163 | GREB1L | Zornitza Stark Marked gene: GREB1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2163 | GREB1L | Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2163 | GREB1L | Zornitza Stark Classified gene: GREB1L as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2163 | GREB1L | Zornitza Stark Gene: greb1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2162 | NLRP3 | Zornitza Stark Marked gene: NLRP3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2162 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2162 | NLRP3 | Zornitza Stark Classified gene: NLRP3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2162 | NLRP3 | Zornitza Stark Gene: nlrp3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2161 | NLRP3 |
Zornitza Stark Tag treatable tag was added to gene: NLRP3. Tag immunological tag was added to gene: NLRP3. |
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| Genomic newborn screening: BabyScreen+ v0.2161 | NLRP3 |
Zornitza Stark gene: NLRP3 was added gene: NLRP3 was added to Baby Screen+ newborn screening. Sources: Expert Review Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NLRP3 were set to 25038238 Phenotypes for gene: NLRP3 were set to Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 Review for gene: NLRP3 was set to AMBER Added comment: Established gene-disease associations. Variants in this gene cause a spectrum of clinical phenotypes, ranging from onset in infancy to adult-onset, with variable severity. Genotype-phenotype correlation is unclear, hence not suitable for inclusion at this time. Treatment: corticosteroids, anakinra, rilonacept and canakinumab. Non-genetic confirmatory testing: no. Sources: Expert Review |
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| Genomic newborn screening: BabyScreen+ v0.2160 | AMT |
Zornitza Stark Tag treatable tag was added to gene: AMT. Tag metabolic tag was added to gene: AMT. |
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| Genomic newborn screening: BabyScreen+ v0.2160 | AMT | Zornitza Stark Publications for gene: AMT were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2159 | AMT | Zornitza Stark Classified gene: AMT as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2159 | AMT | Zornitza Stark Gene: amt has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2158 | AMT |
Zornitza Stark edited their review of gene: AMT: Added comment: Severe infantile forms: treatment does not currently alter outcomes. Attenuated forms can have onset in childhood, therapy with sodium benzoate and NMDA (The N-methyl-D-aspartate receptor) receptor site antagonists (dextromethorphan, ketamine) but uncertainty about effectiveness.; Changed rating: AMBER; Changed publications: 35683414 |
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| Genomic newborn screening: BabyScreen+ v0.2158 | GLDC | Zornitza Stark Publications for gene: GLDC were set to 16404748; 34513771 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2157 | GLDC | Zornitza Stark Classified gene: GLDC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2157 | GLDC | Zornitza Stark Gene: gldc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2156 | GLDC |
Zornitza Stark changed review comment from: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening.; to: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening. However, the effectiveness of treatment is not established, PMID 35683414 for a recent review. |
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| Genomic newborn screening: BabyScreen+ v0.2156 | GLDC | Zornitza Stark edited their review of gene: GLDC: Changed rating: AMBER; Changed publications: 35683414 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2156 | GLDC | Zornitza Stark Classified gene: GLDC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2156 | GLDC | Zornitza Stark Gene: gldc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2155 | GLDC | Zornitza Stark commented on gene: GLDC: Severe form likely to present clinically, so milder forms, which are more amenable to treatment are likely to be identified through screening. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2155 | SAMHD1 | Zornitza Stark Classified gene: SAMHD1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2155 | SAMHD1 | Zornitza Stark Gene: samhd1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2154 | SAMHD1 | Zornitza Stark reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2154 | CYP27A1 |
Zornitza Stark Tag for review was removed from gene: CYP27A1. Tag metabolic tag was added to gene: CYP27A1. |
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| Genomic newborn screening: BabyScreen+ v0.2154 | CYP27A1 | Zornitza Stark Classified gene: CYP27A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2154 | CYP27A1 | Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2153 | CYP27A1 | Zornitza Stark edited their review of gene: CYP27A1: Added comment: Average age of onset is in late childhood, but a proportion would have onset < 5yo and early treatment beneficial.; Changed rating: GREEN; Changed publications: 24442603 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2153 | SGSH | Zornitza Stark Publications for gene: SGSH were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Classified gene: SGSH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2152 | SGSH | Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2151 | SGSH | Zornitza Stark Tag clinical trial tag was added to gene: SGSH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: BabyScreen+ v0.2151 | SGSH | Zornitza Stark reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 31044143; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.895 | MCM6 | Suliman Khan reviewed gene: MCM6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 37198333; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, MCM6-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.165 | ANG | Zornitza Stark Marked gene: ANG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.165 | ANG | Zornitza Stark Gene: ang has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.165 | ANG | Zornitza Stark Phenotypes for gene: ANG were changed from to Amyotrophic Lateral Sclerosis 9 (MONDO: 0012753; MIM#611895) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.164 | ANG | Zornitza Stark Publications for gene: ANG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.163 | ANG | Zornitza Stark Mode of inheritance for gene: ANG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.162 | ALS2 | Zornitza Stark Marked gene: ALS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.162 | ALS2 | Zornitza Stark Gene: als2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.162 | ALS2 | Zornitza Stark Phenotypes for gene: ALS2 were changed from to Amyotrophic lateral sclerosis 2, juvenile (MIM# 205100; MONDO: MONDO:0008780) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.161 | ALS2 | Zornitza Stark Publications for gene: ALS2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.160 | ALS2 | Zornitza Stark Mode of inheritance for gene: ALS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.159 | ASCC1 | Zornitza Stark Marked gene: ASCC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.159 | ASCC1 | Zornitza Stark Gene: ascc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.159 | ASCC1 | Zornitza Stark Phenotypes for gene: ASCC1 were changed from to spinal muscular atrophy with congenital bone fractures 2 (MONDO:0014807; MIM#616867) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.158 | ASCC1 | Zornitza Stark Publications for gene: ASCC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Motor Neurone Disease v0.157 | ASCC1 | Zornitza Stark Mode of inheritance for gene: ASCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | APTX | Zornitza Stark Marked gene: APTX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | APTX | Zornitza Stark Gene: aptx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.166 | APTX | Zornitza Stark Phenotypes for gene: APTX were changed from Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; Hereditary Neuropathies to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (MIM#208920) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.165 | APTX | Zornitza Stark Publications for gene: APTX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.164 | B4GALNT1 | Zornitza Stark Marked gene: B4GALNT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.164 | B4GALNT1 | Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.164 | B4GALNT1 | Zornitza Stark Phenotypes for gene: B4GALNT1 were changed from Spastic paraplegia, intellectual disability, ataxia, dystonia, axonal sensory-motor neuropathy to Spastic paraplegia 26, autosomal recessive (MIM#609195; MONDO:0012213) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.163 | B4GALNT1 | Zornitza Stark Publications for gene: B4GALNT1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.162 | B4GALNT1 | Zornitza Stark Classified gene: B4GALNT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.162 | B4GALNT1 | Zornitza Stark Gene: b4galnt1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.161 | BAG3 | Zornitza Stark Marked gene: BAG3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.161 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.161 | BAG3 | Zornitza Stark Phenotypes for gene: BAG3 were changed from Myopathy, myofibrillar, 6 612954; Cardiomyopathy, dilated, 1HH, 613881; HMSN to Myopathy, myofibrillar, 6 (MIM#612954; MONDO:0013061) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.160 | BAG3 | Zornitza Stark Publications for gene: BAG3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.159 | BAG3 | Zornitza Stark Classified gene: BAG3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.159 | BAG3 | Zornitza Stark Gene: bag3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.158 | CNTNAP1 | Zornitza Stark Marked gene: CNTNAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.158 | CNTNAP1 | Zornitza Stark Gene: cntnap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.158 | CNTNAP1 | Zornitza Stark Phenotypes for gene: CNTNAP1 were changed from Hypomyelinating neuropathy, congenital, 3, 618186 to Hypomyelinating neuropathy, congenital, 3 (MONDO:0017049; MIM#618186) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.157 | CNTNAP1 | Zornitza Stark Publications for gene: CNTNAP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.156 | COX10 | Zornitza Stark Marked gene: COX10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.156 | COX10 | Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.156 | COX10 | Zornitza Stark Phenotypes for gene: COX10 were changed from Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency; HMSN to Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.155 | COX10 | Zornitza Stark Publications for gene: COX10 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.154 | COX10 | Zornitza Stark Classified gene: COX10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.154 | COX10 | Zornitza Stark Gene: cox10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.153 | CTDP1 | Zornitza Stark Marked gene: CTDP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.153 | CTDP1 | Zornitza Stark Gene: ctdp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.153 | CTDP1 | Zornitza Stark Phenotypes for gene: CTDP1 were changed from Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN); HMSN to Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.152 | CTDP1 | Zornitza Stark Publications for gene: CTDP1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.151 | CTDP1 |
Zornitza Stark Tag deep intronic tag was added to gene: CTDP1. Tag founder tag was added to gene: CTDP1. |
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| Hereditary Neuropathy v0.151 | CTDP1 | Zornitza Stark reviewed gene: CTDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.151 | CYP2U1 | Zornitza Stark Marked gene: CYP2U1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.151 | CYP2U1 | Zornitza Stark Gene: cyp2u1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.151 | CYP2U1 | Zornitza Stark Phenotypes for gene: CYP2U1 were changed from Onset first decade, spastic paraplegia, rarely dystonia and cognitive impairment, subclinical sensory-motor axonal neuropathy to Spastic paraplegia 56, autosomal recessive, MIM#615030 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.150 | CYP2U1 | Zornitza Stark Publications for gene: CYP2U1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.109 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to 33461977 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.108 | RASA1 | Zornitza Stark edited their review of gene: RASA1: Added comment: PMID 36980822: 21 cases presenting with hydrops.; Changed publications: 33461977, 36980822 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.300 | RASA1 | Zornitza Stark Publications for gene: RASA1 were set to 26096958 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.299 | RASA1 | Zornitza Stark Classified gene: RASA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.299 | RASA1 | Zornitza Stark Gene: rasa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Marked gene: ADCY5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Classified gene: ADCY5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.86 | ADCY5 | Zornitza Stark Gene: adcy5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.85 | ACTB | Zornitza Stark Marked gene: ACTB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.85 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.85 | ACTB | Zornitza Stark Mode of inheritance for gene: ACTB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.84 | ACTB | Zornitza Stark Classified gene: ACTB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.84 | ACTB | Zornitza Stark Gene: actb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Marked gene: ACADM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Gene: acadm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Classified gene: ACADM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.83 | ACADM | Zornitza Stark Gene: acadm has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Marked gene: ADNP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Gene: adnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Classified gene: ADNP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.82 | ADNP | Zornitza Stark Gene: adnp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Marked gene: AHDC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Classified gene: AHDC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.81 | AHDC1 | Zornitza Stark Gene: ahdc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.80 | AKT3 | Zornitza Stark Marked gene: AKT3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.80 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.80 | AKT3 | Zornitza Stark Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.79 | AKT3 | Zornitza Stark Classified gene: AKT3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.79 | AKT3 | Zornitza Stark Gene: akt3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.78 | AKT3 | Zornitza Stark reviewed gene: AKT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, MIM# 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.78 | ARG1 | Zornitza Stark Marked gene: ARG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.78 | ARG1 | Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.78 | ARG1 | Zornitza Stark Classified gene: ARG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.78 | ARG1 | Zornitza Stark Gene: arg1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.77 | ARID2 | Zornitza Stark Marked gene: ARID2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.77 | ARID2 | Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.77 | ARID2 | Zornitza Stark Classified gene: ARID2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.77 | ARID2 | Zornitza Stark Gene: arid2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.76 | ATP7A | Zornitza Stark Marked gene: ATP7A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.76 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.76 | ATP7A | Zornitza Stark Classified gene: ATP7A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.76 | ATP7A | Zornitza Stark Gene: atp7a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Marked gene: ATP8A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Classified gene: ATP8A2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.75 | ATP8A2 | Zornitza Stark Gene: atp8a2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.74 | BCL11A | Zornitza Stark Publications for gene: BCL11A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.73 | BCL11A | Zornitza Stark Classified gene: BCL11A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.73 | BCL11A | Zornitza Stark Gene: bcl11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.72 | BRAT1 | Zornitza Stark Marked gene: BRAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.72 | BRAT1 | Zornitza Stark Gene: brat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.72 | BRAT1 | Zornitza Stark Classified gene: BRAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.72 | BRAT1 | Zornitza Stark Gene: brat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.71 | CACNA1A | Zornitza Stark Phenotypes for gene: CACNA1A were changed from Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Migraine, familial hemiplegic, 1, MIM# 141500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia 141500; Spinocerebellar ataxia 6, MIM# 183086 to Developemental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2, MIM# 108500; Spinocerebellar ataxia 6, MIM# 183086 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.70 | CACNA1A | Zornitza Stark Publications for gene: CACNA1A were set to 29761117 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.69 | CACNA1A | Zornitza Stark Classified gene: CACNA1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.69 | CACNA1A | Zornitza Stark Gene: cacna1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Marked gene: CASK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Gene: cask has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Classified gene: CASK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.68 | CASK | Zornitza Stark Gene: cask has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.67 | CDKL5 | Zornitza Stark Marked gene: CDKL5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.67 | CDKL5 | Zornitza Stark Gene: cdkl5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.67 | CDKL5 | Zornitza Stark Phenotypes for gene: CDKL5 were changed from to Developmental and epileptic encephalopathy 2, MIM# 300672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.66 | CDKL5 | Zornitza Stark Classified gene: CDKL5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.66 | CDKL5 | Zornitza Stark Gene: cdkl5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.65 | CHD8 | Zornitza Stark Marked gene: CHD8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.65 | CHD8 | Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.65 | CHD8 | Zornitza Stark Classified gene: CHD8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.65 | CHD8 | Zornitza Stark Gene: chd8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.64 | ATP7B | Zornitza Stark Marked gene: ATP7B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.64 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.64 | ATP7B | Zornitza Stark Classified gene: ATP7B as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.64 | ATP7B | Zornitza Stark Gene: atp7b has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Marked gene: CLCN4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Classified gene: CLCN4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.63 | CLCN4 | Zornitza Stark Gene: clcn4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.62 | CLTC | Zornitza Stark Marked gene: CLTC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.62 | CLTC | Zornitza Stark Gene: cltc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.62 | CLTC | Zornitza Stark Classified gene: CLTC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.62 | CLTC | Zornitza Stark Gene: cltc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.61 | COL4A1 | Zornitza Stark Phenotypes for gene: COL4A1 were changed from {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519 to {Hemorrhage, intracerebral, susceptibility to}, MIM# 614519; Brain small vessel disease MIM#614483 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.60 | COL4A1 | Zornitza Stark Publications for gene: COL4A1 were set to 31700678; 17379824 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.59 | COL4A1 | Zornitza Stark Classified gene: COL4A1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.59 | COL4A1 | Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.58 | CREBBP | Zornitza Stark Marked gene: CREBBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.58 | CREBBP | Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.58 | CREBBP | Zornitza Stark Classified gene: CREBBP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.58 | CREBBP | Zornitza Stark Gene: crebbp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Marked gene: CTBP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Gene: ctbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Classified gene: CTBP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.57 | CTBP1 | Zornitza Stark Gene: ctbp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Marked gene: CTNNA2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Classified gene: CTNNA2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.56 | CTNNA2 | Zornitza Stark Gene: ctnna2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.55 | DOCK6 | Zornitza Stark Marked gene: DOCK6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.55 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.55 | DOCK6 | Zornitza Stark Classified gene: DOCK6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.55 | DOCK6 | Zornitza Stark Gene: dock6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.54 | DYNC1H1 | Zornitza Stark Marked gene: DYNC1H1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.54 | DYNC1H1 | Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.54 | DYNC1H1 | Zornitza Stark Phenotypes for gene: DYNC1H1 were changed from Charcot-Marie-Tooth disease MIM#614228; Cortical dysplasia, complex MIM#614563; Spinal muscular atrophy, lower extremity-predominant MIM#158600 to Cortical dysplasia, complex MIM#614563 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.53 | DYNC1H1 | Zornitza Stark Classified gene: DYNC1H1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.53 | DYNC1H1 | Zornitza Stark Gene: dync1h1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.52 | DYRK1A | Zornitza Stark Marked gene: DYRK1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.52 | DYRK1A | Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.52 | DYRK1A | Zornitza Stark Classified gene: DYRK1A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.52 | DYRK1A | Zornitza Stark Gene: dyrk1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.51 | EXOSC3 | Zornitza Stark Marked gene: EXOSC3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.51 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.51 | EXOSC3 | Zornitza Stark Classified gene: EXOSC3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.51 | EXOSC3 | Zornitza Stark Gene: exosc3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.50 | FAM126A | Zornitza Stark Marked gene: FAM126A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.50 | FAM126A | Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.50 | FAM126A | Zornitza Stark Classified gene: FAM126A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.50 | FAM126A | Zornitza Stark Gene: fam126a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.49 | ERCC8 | Zornitza Stark Marked gene: ERCC8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.49 | ERCC8 | Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.49 | ERCC8 | Zornitza Stark Classified gene: ERCC8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.49 | ERCC8 | Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.48 | ELP2 | Zornitza Stark Marked gene: ELP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.48 | ELP2 | Zornitza Stark Gene: elp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.48 | ELP2 | Zornitza Stark Classified gene: ELP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.48 | ELP2 | Zornitza Stark Gene: elp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Marked gene: EEF1A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Classified gene: EEF1A2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.47 | EEF1A2 | Zornitza Stark Gene: eef1a2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.46 | FAR1 | Zornitza Stark Marked gene: FAR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.46 | FAR1 | Zornitza Stark Gene: far1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.46 | FAR1 | Zornitza Stark Classified gene: FAR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.46 | FAR1 | Zornitza Stark Gene: far1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.45 | FARS2 | Zornitza Stark Marked gene: FARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.45 | FARS2 | Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.45 | FARS2 | Zornitza Stark Classified gene: FARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.45 | FARS2 | Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.44 | ATM | Zornitza Stark Marked gene: ATM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.44 | ATM | Zornitza Stark Gene: atm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.44 | ATM | Zornitza Stark Classified gene: ATM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.44 | ATM | Zornitza Stark Gene: atm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.43 | FH | Zornitza Stark Marked gene: FH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.43 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.43 | FH | Zornitza Stark Classified gene: FH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.43 | FH | Zornitza Stark Gene: fh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.42 | FLNA | Zornitza Stark Marked gene: FLNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.42 | FLNA | Zornitza Stark Gene: flna has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.42 | FLNA | Zornitza Stark Phenotypes for gene: FLNA were changed from Cardiac valvular dysplasia MIM#314400; Congenital short bowel syndrome MIM#300048; Frontometaphyseal dysplasia MIM#305620; Heterotopia, periventricular MIM#300049; Intestinal pseudoobstruction MIM#300048; Melnick-Needles syndrome MIM#309350; Otopalatodigital syndrome I MIM#311300; Otopalatodigital syndrome II MIM# 304120; Terminal osseous dysplasia MIM#300244 to Heterotopia, periventricular, 1, MIM#300049 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.41 | FLNA | Zornitza Stark Classified gene: FLNA as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.41 | FLNA | Zornitza Stark Gene: flna has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.40 | FLNA | Zornitza Stark reviewed gene: FLNA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotopia, periventricular, 1, MIM#300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.40 | FRRS1L | Zornitza Stark Marked gene: FRRS1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.40 | FRRS1L | Zornitza Stark Gene: frrs1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.40 | FRRS1L | Zornitza Stark Classified gene: FRRS1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.40 | FRRS1L | Zornitza Stark Gene: frrs1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | FRRS1L | Zornitza Stark reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy MIM#616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Marked gene: GABRB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Classified gene: GABRB1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.39 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.38 | GABRB2 | Zornitza Stark Marked gene: GABRB2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.38 | GABRB2 | Zornitza Stark Gene: gabrb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.38 | GABRB2 | Zornitza Stark Classified gene: GABRB2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.38 | GABRB2 | Zornitza Stark Gene: gabrb2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.37 | GCDH | Zornitza Stark Marked gene: GCDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.37 | GCDH | Zornitza Stark Gene: gcdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.37 | GCDH | Zornitza Stark Classified gene: GCDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.37 | GCDH | Zornitza Stark Gene: gcdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral Palsy v1.36 | GCDH |
Luisa Weiss gene: GCDH was added gene: GCDH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCDH were set to 30542205; 26593172 Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670 Review for gene: GCDH was set to AMBER Added comment: One case in a larger cohort study of patients with atypical CP, no mutation information given. One case report of one boy diagnosed with dystonic CP and homozygous missense mutation in GCDH with biochemically corresponding features. Sources: Literature |
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| Cerebral Palsy v1.36 | GABRB2 |
Luisa Weiss gene: GABRB2 was added gene: GABRB2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB2 were set to 33528536 Phenotypes for gene: GABRB2 were set to Developmental and epileptic encephalopathy MIM#617829 Review for gene: GABRB2 was set to AMBER Added comment: Two cases in a large CP cohort study with heterozygous de novo mutations in GABRB2. Sources: Literature |
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| Cerebral Palsy v1.36 | GABRB1 |
Luisa Weiss gene: GABRB1 was added gene: GABRB1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 34540776 Phenotypes for gene: GABRB1 were set to Developmental and epileptic encephalopathy MIM#617153 Review for gene: GABRB1 was set to RED Added comment: One large cohort study on CP patients from Iran presents one patient with a heterozygous mutation in GABRB1 and atypical CP with developmental delay, ID and microcephaly. The patient's mutation (NM_000812:c.1243G>C,p.G415R) is present in a heterozygous state in the patient and no information about inheritance is given. The authors propose a recessively inherited disease. The variant is classified as a variant of unknown significance in this paper. Sources: Literature |
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| Cerebral Palsy v1.36 | FRRS1L |
Luisa Weiss gene: FRRS1L was added gene: FRRS1L was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRRS1L were set to 33528536; 27236917 Phenotypes for gene: FRRS1L were set to Developmental and epileptic encephalopathy MIM#616981 Review for gene: FRRS1L was set to GREEN Added comment: Three independent patients in a large CP cohort study with the same recurrent homozygous mutation (NM_014334:c.735_737del,p.245_246del). Another cohort study of multiple patients with biallelic FRRS1L mutations and epileptic-dyskinetic encephalopathy described on patient (individual 4_II-1) with non-progressive movement disorder in addition to epilepsy. Sources: Literature |
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| Cerebral Palsy v1.36 | FLNA |
Luisa Weiss gene: FLNA was added gene: FLNA was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: FLNA were set to 29706646; 34077496; 25817843 Phenotypes for gene: FLNA were set to Cardiac valvular dysplasia MIM#314400; Congenital short bowel syndrome MIM#300048; Frontometaphyseal dysplasia MIM#305620; Heterotopia, periventricular MIM#300049; Intestinal pseudoobstruction MIM#300048; Melnick-Needles syndrome MIM#309350; Otopalatodigital syndrome I MIM#311300; Otopalatodigital syndrome II MIM# 304120; Terminal osseous dysplasia MIM#300244 Review for gene: FLNA was set to GREEN Added comment: In a large Chinese cohort study two male patients with hemizygous FLNA missense mutations and spastic hemiplegic CP were identified. One additional patient in a cohort study of 52 patients with CP investigated for causative CNVs. This patient harbored a pathogenic maternally inherited triplication on Xq28 including FLNA. No information about the patient's gender is given. One other cohort study (PMID 29706646) of patients with cortical malformations, which can be associated with CP overlapping features, also revealed one female patient with maternally inherited heterozygous FLNA mutation and ataxia. The mother had the same neuroradiologic features but did not show any symptoms. Sources: Literature |
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| Cerebral Palsy v1.36 | FH |
Luisa Weiss gene: FH was added gene: FH was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FH were set to 33528536; 27541980; 1432428 Phenotypes for gene: FH were set to Fumarase deficiency MIM#606812 Review for gene: FH was set to GREEN Added comment: Two patients from a large CP cohort with biallelic (compound heterozygous) mutations in FH. Note that there is a recurrent mutation (NM_000143:c.1429_1430insAAA,p.K477delinsKK) which was already described in a compound heterozygous state in two sister with an attenuated form of fumarase deficiency and slowly progressive movement disorder (PMID:27541980). One other case report of a girl with a previous diagnosis of cerebral palsy, nonprogressive psychomotor retardation, and hypotonia and reduced fibroblast activity of FH to 10% and parental fibroblast activity of FH in the heterozygote range. No genetic testing had been performed on this patient. Sources: Literature |
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| Cerebral Palsy v1.36 | ATM |
Luisa Weiss changed review comment from: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia Sources: Literature; to: 3 individuals presenting with CP and harboring biallelic compound heterozygous mutations in ATM. At least one of the individual had an overlapping phenotype of CP with Ataxia Teleangiectasia Sources: Literature |
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| Cerebral Palsy v1.36 | FARS2 |
Luisa Weiss gene: FARS2 was added gene: FARS2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FARS2 were set to 33528536; 32989326; 25851414 Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency MIM#614946; 3 Spastic paraplegia MIM#617046 Review for gene: FARS2 was set to GREEN Added comment: Four patients out of three publications (two large CP cohort studies with one patient each, one case report of two sibling with the clinical diagnosis of CP) with biallelic mutations in FARS2. Sources: Literature |
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| Cerebral Palsy v1.36 | FAR1 |
Luisa Weiss gene: FAR1 was added gene: FAR1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FAR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FAR1 were set to 33239752 Phenotypes for gene: FAR1 were set to Cataracts, spastic paraparesis, and speech delay MIM#619338 Mode of pathogenicity for gene: FAR1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: FAR1 was set to GREEN Added comment: One publication with a total of 12 patients with an amino acid change at position 480 (p.Arg480Cys/His/Leu) of FAR1 and movement disorder, epilepsy and cataract. The movement disorder was non-progressive in almost all of the individuals even though the clinical diagnosis of CP was not given. Functional studies in the same publication showed that patients with the heterozygous de novo variants have elevated levels of ether lipids, including plasmalogens, which makes these mutations gain-of-function mutations (in contrast to the peroxisomal fatty acyl-CoA reductase 1 disorder, which is caused by biallelic loss-of-function mutations in the same gene). Sources: Literature |
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| Cerebral Palsy v1.36 | EEF1A2 |
Luisa Weiss gene: EEF1A2 was added gene: EEF1A2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EEF1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EEF1A2 were set to 33528536; 30109124; 32196822 Phenotypes for gene: EEF1A2 were set to Developmental and epileptic encephalopathy MIM#616409 Review for gene: EEF1A2 was set to AMBER Added comment: One patient in a large CP cohort with heterozygous EEF1A2 mutation. In another publication there is one patient from a cohort of patients with EIEE and EEF1A2 mutations that was also reported to have CP. One other paper (PMID:32196822) presents a cohort of patients with epileptic-dyskinetic encephalopathy due to heterozygous de novo EEIF1A2 mutations of which 4 had a non-progressive movement disorder without the clinical diagnosis of CP. Sources: Literature |
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| Cerebral Palsy v1.36 | ELP2 |
Luisa Weiss changed review comment from: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. At least for one patient symptom progression was described. Sources: Literature; to: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. For one patient symptom progression was described. Sources: Literature |
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| Cerebral Palsy v1.36 | ERCC8 |
Luisa Weiss changed review comment from: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations. Sources: Literature; to: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations because of disease progression. Sources: Literature |
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| Cerebral Palsy v1.36 | FAM126A |
Luisa Weiss gene: FAM126A was added gene: FAM126A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAM126A were set to 34788679 Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating MIM#610532 Review for gene: FAM126A was set to AMBER Added comment: One large CP cohort study with one patient with a homozygous HYCC1/FAM126A mutation and CP Sources: Literature |
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| Cerebral Palsy v1.36 | EXOSC3 |
Luisa Weiss gene: EXOSC3 was added gene: EXOSC3 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC3 were set to 33528536 Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia MIM#614678 Review for gene: EXOSC3 was set to GREEN Added comment: One large CP cohort study with 3 unrelated patients harboring the same homozygous missense mutation (p.D132A). The same missense mutation has been described in a homozygous state as well as compound heterozygous with a different pathogenic mutation in the same gene as causing pontocerebellar hypoplasia. Sources: Literature |
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| Cerebral Palsy v1.36 | ERCC8 |
Luisa Weiss gene: ERCC8 was added gene: ERCC8 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC8 were set to 33528536; 30279719 Phenotypes for gene: ERCC8 were set to Cockayne syndrome MIM#216400 Review for gene: ERCC8 was set to GREEN Added comment: One large CP cohort study with 3 unrelated patients with biallelic mutations in ERCC8. Two were point mutations (one missense, one nonsense), the other a large deletion that included ERCC8 and NDUFAF2-gene. Another case report of a boy that was initially diagnosed as having CP but later re-diagnosed as having Cockayne syndrome due to biallelic ERCC8 mutations. Sources: Literature |
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| Cerebral Palsy v1.36 | ELP2 |
Luisa Weiss gene: ELP2 was added gene: ELP2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELP2 were set to 25131622; 33976153 Phenotypes for gene: ELP2 were set to Intellectual developmental disorder MIM#617270 Review for gene: ELP2 was set to GREEN Added comment: Nine patients in two different publications described as having biallelic ELP2 mutations and a form of ID syndrome with cerebral palsy as one neurological feature. At least for one patient symptom progression was described. Sources: Literature |
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| Cerebral Palsy v1.36 | DYRK1A |
Luisa Weiss gene: DYRK1A was added gene: DYRK1A was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYRK1A were set to 33528536 Phenotypes for gene: DYRK1A were set to Intellectual developmental disorder MIM#614104 Review for gene: DYRK1A was set to GREEN Added comment: 6 patients in one large CP cohort study described with mutations in DYRK1A. Sources: Literature |
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| Cerebral Palsy v1.36 | DYNC1H1 |
Luisa Weiss gene: DYNC1H1 was added gene: DYNC1H1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to 33528536; 25817843 Phenotypes for gene: DYNC1H1 were set to Charcot-Marie-Tooth disease MIM#614228; Cortical dysplasia, complex MIM#614563; Spinal muscular atrophy, lower extremity-predominant MIM#158600 Review for gene: DYNC1H1 was set to GREEN Added comment: Four patients with de novo heterozygous missense mutations and one patient with a de novo gene deletion in DYNC1H1 in two independent CP cohort studies described. Sources: Literature |
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| Cerebral Palsy v1.36 | DOCK6 |
Luisa Weiss gene: DOCK6 was added gene: DOCK6 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK6 were set to 25824905; 34114234 Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2 MIM#614219 Review for gene: DOCK6 was set to GREEN Added comment: In one study (PMID:25824905) ten patients with Adams-Oliver syndrome type 2 were described, 4 of which had CP. All of them had ocular anomalies and scalp defects, indicating that there is a high phenotypic overlap with the autosomal recessive form of Adams-Oliver-syndrome that is associated with eye anomalies. In another CP cohort study (PMID: 34114234) one patient with biallelic variants of unknown clinical significance in DOCK6 was described, but there was no indication of eye or skin anomalies. Sources: Literature |
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| Cerebral Palsy v1.36 | CTNNA2 |
Luisa Weiss gene: CTNNA2 was added gene: CTNNA2 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTNNA2 were set to 30013181 Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations MIM#618174 Review for gene: CTNNA2 was set to GREEN Added comment: In 7 affected individuals of three consanguineous families a complex brain malformation syndrome with pachygyria, cortical gray matter thickening, hypogenesis of the corpus callosum, and cerebellar hypoplasia, neurodevelopmental delay, acquired microcephaly and seizures is described. All of the individuals are described as having hypotonic cerebral palsy and biallelic mutations in CTNNA2. Sources: Literature |
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| Cerebral Palsy v1.36 | CTBP1 |
Luisa Weiss gene: CTBP1 was added gene: CTBP1 was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTBP1 were set to 33528536 Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome MIM#617915 Review for gene: CTBP1 was set to AMBER Added comment: Two independent patients in one large CP cohort studies with the same mutations in this gene (p.R342W), both heterozygous, one of them confirmed de novo. Another recurrent, possibly dominant negative functioning mutation described as causing an ID syndrome with ataxia, hypotonia and tooth enamel defects. Since there is no phenotype given in the CP cohort study, a possible phenotypic overlap cannot be ruled out. Sources: Literature |
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| Cerebral Palsy v1.36 | CREBBP |
Luisa Weiss gene: CREBBP was added gene: CREBBP was added to Cerebral Palsy. Sources: Literature Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CREBBP were set to 33528536; 34788679 Phenotypes for gene: CREBBP were set to Menke-Hennekam syndrome MIM#618332, Rubinstein-Taybi syndrome MIM#180849 Review for gene: CREBBP was set to GREEN Added comment: 3 independent patients in 2 large CP cohort studies describes as having heterozygous de novo mutations in this gene. One mutation (PMID: 34788679) is a frameshift mutation, the two other mutations (PMID: 33528536) are missense mutations, one of which (p.M1872V) was already described twice in patients with Menke-Hennekam syndrome. Possible phenotypic overlap with ID syndrome. Sources: Literature |
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| Ataxia v1.7 | TPR | Zornitza Stark Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v1.6 | TPR | Zornitza Stark edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5230 | TPR | Zornitza Stark Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v0.5229 | TPR | Zornitza Stark edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.205 | TPR | Zornitza Stark Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.204 | TPR | Zornitza Stark edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.895 | TPR | Zornitza Stark Phenotypes for gene: TPR were changed from Multiple congenital anomalies/dysmorphic syndrome, MONDO:0019042, TPR-related to Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.894 | TPR | Zornitza Stark edited their review of gene: TPR: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.894 | AMFR | Zornitza Stark Marked gene: AMFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.894 | AMFR | Zornitza Stark Gene: amfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.894 | AMFR | Zornitza Stark Phenotypes for gene: AMFR were changed from Hereditary spastic paraplegia, MONDO:0019064 to Spastic paraplegia 89, autosomal recessive, MIM# 620379 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.893 | AMFR | Zornitza Stark Classified gene: AMFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.893 | AMFR | Zornitza Stark Gene: amfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.892 | AMFR | Zornitza Stark reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 89, autosomal recessive, MIM# 620379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.63 | AMFR | Zornitza Stark Marked gene: AMFR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.63 | AMFR | Zornitza Stark Gene: amfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.63 | AMFR | Zornitza Stark Phenotypes for gene: AMFR were changed from Hereditary spastic paraplegia, MONDO:0019064 to Spastic paraplegia 89, autosomal recessive, MIM# 620379 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.62 | AMFR | Zornitza Stark Classified gene: AMFR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.62 | AMFR | Zornitza Stark Gene: amfr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v1.61 | AMFR | Zornitza Stark reviewed gene: AMFR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 89, autosomal recessive, MIM# 620379; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.892 | ATP11A | Zornitza Stark Classified gene: ATP11A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.892 | ATP11A | Zornitza Stark Gene: atp11a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.891 | ATP11A | Zornitza Stark edited their review of gene: ATP11A: Added comment: PMID 35278131 reports three additional families with deafness, including segregation in a large pedigree.; Changed rating: GREEN; Changed publications: 35278131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.298 | RASA1 | Lilian Downie reviewed gene: RASA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:36980822; Phenotypes: ?; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.149 | CYP2U1 | Sangavi Sivagnanasundram reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23176821; Phenotypes: Spastic paraplegia 56, autosomal recessive, MIM#615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.149 | CTDP1 | Sangavi Sivagnanasundram reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301787; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy (MIM#604168); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.149 | COX10 | Sangavi Sivagnanasundram reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: None; Publications: 10767350; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3 (MIM#619046); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||