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Fetal anomalies v1.16 MDFIC Zornitza Stark Marked gene: MDFIC as ready
Fetal anomalies v1.16 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Fetal anomalies v1.16 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Fetal anomalies v1.16 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1542 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Genetic Epilepsy v0.1542 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from Developmental and pileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related to Developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Genetic Epilepsy v0.1541 CACNA2D1 Alison Yeung Phenotypes for gene: CACNA2D1 were changed from to Developmental and pileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Mendeliome v0.12729 TTC21B Zornitza Stark Phenotypes for gene: TTC21B were changed from Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Joubert syndrome; Glomerular disorder MONDO:0019722, TTC21B-related
Intellectual disability syndromic and non-syndromic v0.4658 ATP2B1 Daniel Flanagan changed review comment from: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense.
Sources: Expert list; to: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense.
Sources: Expert list
Genetic Epilepsy v0.1540 CACNA2D1 Alison Yeung Classified gene: CACNA2D1 as Green List (high evidence)
Genetic Epilepsy v0.1540 CACNA2D1 Alison Yeung Added comment: Comment on list classification: Two affected individuals with very similar and specific phenotypes. Functional studies in patient cells showed reduced protein expression. Two variants are frameshift, one missense variant shown to affect channel function.
Genetic Epilepsy v0.1540 CACNA2D1 Alison Yeung Gene: cacna2d1 has been classified as Green List (High Evidence).
Mendeliome v0.12728 RSPO2 Belinda Chong reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29769720, 32457899; Phenotypes: Tetraamelia syndrome 2, MIM# 618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1539 ATP2B1 Daniel Flanagan gene: ATP2B1 was added
gene: ATP2B1 was added to Genetic Epilepsy. Sources: Expert list
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B1 were set to PMID: 35358416
Phenotypes for gene: ATP2B1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related
Review for gene: ATP2B1 was set to GREEN
Added comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4658 TRAPPC10 Naomi Baker gene: TRAPPC10 was added
gene: TRAPPC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849
Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related
Review for gene: TRAPPC10 was set to GREEN
Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.

PMID: 30167849 – initial report of family 2 above.
Sources: Literature
Mendeliome v0.12728 TRAPPC10 Naomi Baker gene: TRAPPC10 was added
gene: TRAPPC10 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849
Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related
Review for gene: TRAPPC10 was set to GREEN
Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.

PMID: 30167849 – initial report of family 2 above.
Sources: Literature
Mendeliome v0.12728 FUZ Zornitza Stark Phenotypes for gene: FUZ were changed from {Neural tube defects, susceptibility to} MIM#182940 to {Neural tube defects, susceptibility to} MIM#182940; craniosynostosis, FUZ-related MONDO#0015469
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Marked gene: ADAM22 as ready
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Mendeliome v0.12727 FUZ Zornitza Stark Mode of inheritance for gene: FUZ was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Cerebellar and Pontocerebellar Hypoplasia v1.47 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Mendeliome v0.12726 ATP11A Paul De Fazio reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: 35278131; Phenotypes: Deafness, autosomal dominant 84 MIM#619810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Genetic Epilepsy v0.1539 CACNA2D1 Michelle Torres changed review comment from: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts.

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed it affects channel function due to impaired localisation.
Sources: Literature; to: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts.

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Mutagenesis of the p.(Gly209Asp) showed it affects channel function due to impaired localisation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4658 ATP2B1 Daniel Flanagan gene: ATP2B1 was added
gene: ATP2B1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B1 were set to PMID: 35358416
Phenotypes for gene: ATP2B1 were set to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related
Review for gene: ATP2B1 was set to GREEN
Added comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense. Supporting functional analysis for missense.
Sources: Expert list
Intellectual disability syndromic and non-syndromic v0.4658 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)
Microcephaly v1.117 TRAPPC10 Naomi Baker gene: TRAPPC10 was added
gene: TRAPPC10 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: TRAPPC10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAPPC10 were set to PMID: 35298461; 30167849
Phenotypes for gene: TRAPPC10 were set to neurodevelopmental disorder (MONDO:0700092), TRAPPC10-related
Review for gene: TRAPPC10 was set to GREEN
Added comment: PMID: 35298461 – two Pakistani families reported with homozygous variants. Family 1 has frameshift variant in 8 affected individual and family 2 has missense variant in 2 affected individuals. Patients present with microcephaly, short stature, hypotonia, severe ID and behavioural abnormalities. Seizures also reported in 4/10 individuals. Paper also reported brain abnormalities in null mouse model and other functional in transfected cell lines.
PMID: 30167849 – initial report of family 2 above.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4657 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4657 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1539 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)
Fetal anomalies v1.15 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193
Review for gene: MDFIC was set to GREEN
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Genetic Epilepsy v0.1538 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)
Mendeliome v0.12726 FUZ Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: craniosynostosis, FUZ-related MONDO#0015469; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12726 MDFIC Belinda Chong edited their review of gene: MDFIC: Changed phenotypes: Hydrops fetalis MONDO:0015193
Mendeliome v0.12726 TNNI1 Zornitza Stark Marked gene: TNNI1 as ready
Mendeliome v0.12726 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1537 ADAM22 Alison Yeung Publications for gene: ADAM22 were set to 27066583; 30237576
Mendeliome v0.12726 TNNI1 Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
Mendeliome v0.12726 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.244 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Hydrops fetalis MONDO:0015193
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Mendeliome v0.12725 TNNI1 Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
Genetic Epilepsy v0.1536 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Genetic Epilepsy v0.1536 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Arthrogryposis v0.334 TNNI1 Zornitza Stark Marked gene: TNNI1 as ready
Arthrogryposis v0.334 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.334 TNNI1 Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
Arthrogryposis v0.334 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.333 TNNI1 Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
Mendeliome v0.12724 SLC35B2 Alison Yeung Marked gene: SLC35B2 as ready
Mendeliome v0.12724 SLC35B2 Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12724 SLC35B2 Alison Yeung Classified gene: SLC35B2 as Amber List (moderate evidence)
Mendeliome v0.12724 SLC35B2 Alison Yeung Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.15 TNNI1 Zornitza Stark Marked gene: TNNI1 as ready
Fetal anomalies v1.15 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.15 TNNI1 Zornitza Stark Classified gene: TNNI1 as Amber List (moderate evidence)
Fetal anomalies v1.15 TNNI1 Zornitza Stark Gene: tnni1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12723 FUZ Anna Ritchie Deleted their review
Fetal anomalies v1.14 TNNI1 Zornitza Stark Phenotypes for gene: TNNI1 were changed from arthrogryposis; joint contractures to Arthrogryposis MONDO:0008779, TNNI1-related
Mendeliome v0.12723 FUZ Anna Ritchie commented on gene: FUZ
Cerebellar and Pontocerebellar Hypoplasia v1.46 ADAM22 Lucy Spencer gene: ADAM22 was added
gene: ADAM22 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature
Mode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAM22 were set to 35373813
Phenotypes for gene: ADAM22 were set to Developmental and epileptic encephalopathy 61 (MIM#617933)
Review for gene: ADAM22 was set to GREEN
Added comment: 19 additional patients (some related) all with compound het or homozygous ADAM22 variants. Including the previously described cases there are now 16 families with biallelic ADAM22 variants causing developmental epileptic encephalopathy. All had infantile onset epilepsy and moderate to profound global dev delay and ID. Cerebellar atrophy on MRI and hypotonia were seen in over half of the individuals.

Functional studies suggest LOF- reduced protein expression/protein retained in ER and reduced cell surface expression. Variants described are a mix of missense and PTC.
Sources: Literature
Mendeliome v0.12723 ATP2B1 Zornitza Stark Marked gene: ATP2B1 as ready
Mendeliome v0.12723 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12723 ATP2B1 Zornitza Stark Classified gene: ATP2B1 as Green List (high evidence)
Mendeliome v0.12723 ATP2B1 Zornitza Stark Gene: atp2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12722 FUZ Anna Ritchie Deleted their review
Mendeliome v0.12722 SLC35B2 Melanie Marty changed review comment from: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature; to: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Mendeliome v0.12722 ATP2B1 Zornitza Stark Phenotypes for gene: ATP2B1 were changed from Neurodevelopmental delay; autism; seizures; distal limb abnormalities to Neurodevelopmental disorder, MONDO:0700092, ATP2B1-related
Intellectual disability syndromic and non-syndromic v0.4656 ADAM22 Lucy Spencer reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1535 ADAM22 Lucy Spencer reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12721 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Developmental and epileptic encephalopathy 61 (MIM#617933) to Developmental and epileptic encephalopathy 61 (MIM#617933)
Mendeliome v0.12721 ADAM22 Alison Yeung Phenotypes for gene: ADAM22 were changed from Epileptic encephalopathy, early infantile, 61, MIM# 617933 to Developmental and epileptic encephalopathy 61 (MIM#617933)
Mendeliome v0.12720 MDFIC Zornitza Stark Marked gene: MDFIC as ready
Mendeliome v0.12720 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Mendeliome v0.12720 TTC21B Dean Phelan reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 35289079; Phenotypes: early onset hypertension, proteinuria, progressive kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12720 FUZ Anna Ritchie changed review comment from: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.; to: Novel missense p.(Arg284Pro) mutation in FUZ identified in twins presenting with craniosynostosis. Loss of Fuz resulted in increased mineralisation in both in vitro embryonic primary osteoblast cultures and in fibroblasts undergoing an osteogenic challenge. No previous reports have implicated changes in human FUZ in craniosynostosis. However, variations in FUZ have been found in patients with neural tube defects.
Mendeliome v0.12720 ADAM22 Alison Yeung Publications for gene: ADAM22 were set to 27066583; 30237576
Mendeliome v0.12719 ADAM22 Alison Yeung Classified gene: ADAM22 as Green List (high evidence)
Mendeliome v0.12719 ADAM22 Alison Yeung Gene: adam22 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1535 CACNA2D1 Michelle Torres edited their review of gene: CACNA2D1: Changed phenotypes: developmental and epileptic encephalopathy disorder MONDO:0100062 CACNA2D1-related
Intellectual disability syndromic and non-syndromic v0.4656 AHSG Elena Savva gene: AHSG was added
gene: AHSG was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: AHSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHSG were set to PMID: 28054173; 9395485; 31288248; 17389622
Phenotypes for gene: AHSG were set to ?Alopecia-intellectual disability syndrome 1 MIM#203650; infantile cortical hyperostosis
Review for gene: AHSG was set to RED
Added comment: PMID: 28054173 - 7 relatives within a large consanguinous fam w/ alopecia and ID, and a hom missense (p.Arg317His). Modelling predicts this variant to be a phosphorylation site, functional studies show a difference in protein size. Unclear biological significance.
Alt change with stronger GS (p.(Arg317Cys)) is a common poly with 19 homozygotes in gnomAD.

No hom PTCs in gnomAD

PMID: 9395485 - K/O mouse model shows no gross anatomical abnormalities, were fertile and "healthy". No mentioned of ID, alopecia
PMID: 17389622 - K/O mouse model on the calcification resistant genetic background C57BL/6, shows uraemia and phosphate challenge. No mentioned of ID, alopecia

PMID: 31288248 - 1 hom infant (p.K2*, within 5' NMD escape region) with infantile cortical hyperostosis, loss of enzyme in patient serum shown by ELISA. No mentioned of ID, alopecia
Sources: Literature
Mendeliome v0.12718 MDFIC Zornitza Stark Phenotypes for gene: MDFIC were changed from Central conducting lymphatic anomaly with lymphedema to Hydrops fetalis MONDO:0015193
Intellectual disability syndromic and non-syndromic v0.4655 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4655 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Mendeliome v0.12717 MDFIC Zornitza Stark Classified gene: MDFIC as Green List (high evidence)
Mendeliome v0.12717 MDFIC Zornitza Stark Gene: mdfic has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4655 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4655 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1535 CACNA2D1 Michelle Torres gene: CACNA2D1 was added
gene: CACNA2D1 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: CACNA2D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D1 were set to 35293990
Review for gene: CACNA2D1 was set to GREEN
Added comment: PMID 35293990: WES of 2x unrelated individuals with early-onset developmental epileptic encephalopathy, microcephaly, severe hypotonia, absent speech, spasticity, choreiform movements, orofacial dyskinesia, and 2 cortical visual impairment, corpus callosum hypoplasia and progressive volume loss. Patient 2 also had a tiny patent foramen ovale.

Patient 1 is homozygous for p.(Ser275Asnfs*13). mRNA and protein expression were reduced to ~10% of WT in fibroblasts.

Patient 2 is cHet for p.(Leu9Alafs*5) and p.(Gly209Asp). mRNA expression in patients fibroblasts was similar to controls, and protein expression reduced to 31-38%. Functional of the p.(Gly209Asp) showed it affects channel function due to impaired localisation.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4654 VPS16 Ain Roesley Marked gene: VPS16 as ready
Intellectual disability syndromic and non-syndromic v0.4654 VPS16 Ain Roesley Gene: vps16 has been classified as Red List (Low Evidence).
Mendeliome v0.12716 FUZ Anna Ritchie reviewed gene: FUZ: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 34719684; Phenotypes: Craniosynostosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Marked gene: PIGA as ready
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Gene: piga has been classified as Green List (High Evidence).
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Classified gene: PIGA as Green List (high evidence)
Metal Metabolism Disorders v0.29 PIGA Alison Yeung Gene: piga has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4654 VPS16 Ain Roesley gene: VPS16 was added
gene: VPS16 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS16 were set to 33938619; 34013567; 34901436
Phenotypes for gene: VPS16 were set to mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Review for gene: VPS16 was set to GREEN
gene: VPS16 was marked as current diagnostic
Added comment: for AR MPS - developmental delay reported
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

also associated with AD dystonia
PMID:34901436 suggests dystonia is transcript specific
Sources: Literature
Mendeliome v0.12716 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Mendeliome v0.12715 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12714 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Mendeliome v0.12714 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376, 11385718, 8572189, 21262074, 22815480, 26779504; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879, Cardiomyopathy, hypertrophic, 13 (MIM# 613243); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.332 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Fetal anomalies v1.13 TNNI1 Krithika Murali gene: TNNI1 was added
gene: TNNI1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TNNI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI1 were set to 34934811
Phenotypes for gene: TNNI1 were set to arthrogryposis; joint contractures
Review for gene: TNNI1 was set to AMBER
Added comment: No OMIM gene disease association reported

PMID 34934811 Nishimori et al report 2 individuals from a Japanese family with joint contractures, elevated CK and a novel heterozygous TNNI1 variant.

The proband was born with clasped thumbs (gestational age not stated) requiring surgical correction at 5 months of age. At age 14 was diagnosed with contractures of the neck, trunk, hip and knee with elevated serum CK (1689 IU/L). No muscle weakness noted. Muscle biopsy showed moth-eaten appearance of type I fibres and electron microscopy showed type 1 fibre Z disk streaming.

Trio exome sequencing identified a paternally heterozygous nonsense TNNI1 variant (c.523A>T p.K175*). The proband's father and paternal grandfather (not genotyped) also have a history of joint contractures with elevated CK.

The affected amino acid residue is in the tropomyosin binding site near the C-terminus and is highly conserved. The variant is absent from gnomAD. rt-PCR products of mRNA from the patient's muscle biopsy showed presence of both mutated and normal transcripts.
Sources: Literature
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Classified gene: VPS16 as Green List (high evidence)
Lysosomal Storage Disorder v1.6 VPS16 Ain Roesley Gene: vps16 has been classified as Green List (High Evidence).
Mendeliome v0.12714 SLC35B2 Melanie Marty gene: SLC35B2 was added
gene: SLC35B2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SLC35B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35B2 were set to PMID: 35325049
Phenotypes for gene: SLC35B2 were set to chondrodysplasia with hypomyelinating leukodystrophy, intellectual disability
Review for gene: SLC35B2 was set to AMBER
Added comment: 2 x individuals with homozygous variants (c.1218_1220del and c.1224_1225del) in SLC35B2. Phenotypes included pre- and postnatal growth retardation, scoliosis, severe motor and intellectual disabilities and hypomyelinating leukodystrophy.

Functional analysis on patient cells showed that the variants result in a decreased expression of mRNA and affect protein subcellular localization leading to functional impairment of the protein.
Sources: Literature
Metal Metabolism Disorders v0.28 PIGA Alison Yeung gene: PIGA was added
gene: PIGA was added to Iron metabolism disorders. Sources: Literature
Mode of inheritance for gene: PIGA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIGA were set to 34875027
Phenotypes for gene: PIGA were set to Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072
Review for gene: PIGA was set to GREEN
Added comment: Heterozygous variants in PIGA causing a neurodevelopment disorder and a juvenile form of hereditary hemochromatosis reported in > three unrelated patients. All patients had increased serum iron, ferritin and transferrin saturation levels, high ALP and low hepcidin. All patients had generalised seizures and intellectual disability. A subpopulation of patient blood cells showed a slight reduction of GPI-anchored proteins, suggesting that the mutations were hypomorphic and retained some residual activity. CRISPR/Cas12a-mediated knockdown of PIGA in Hep3B liver cells eliminated the cell surface expression of GPI-anchored proteins CD59 and hemojuvelin (HJV; 608374), as well as caused decreased expression of hepcidin (606464) compared to controls. These hypomorphic alleles could explain the milder neurologic phenotype, which allowed for sufficiently long survival for the iron overload phenotype to manifest.
Sources: Literature
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley Marked gene: VPS16 as ready
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley Gene: vps16 has been classified as Red List (Low Evidence).
Mendeliome v0.12714 AHSG Elena Savva gene: AHSG was added
gene: AHSG was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: AHSG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHSG were set to PMID: 28054173; 9395485; 31288248; 17389622
Phenotypes for gene: AHSG were set to ?Alopecia-intellectual disability syndrome 1 MIM#203650; infantile cortical hyperostosis
Review for gene: AHSG was set to RED
Added comment: PMID: 28054173 - 7 relatives within a large consanguinous fam w/ alopecia and ID, and a hom missense (p.Arg317His). Modelling predicts this variant to be a phosphorylation site, functional studies show a difference in protein size. Unclear biological significance.
Alt change with stronger GS (p.(Arg317Cys)) is a common poly with 19 homozygotes in gnomAD.

No hom PTCs in gnomAD

PMID: 9395485 - K/O mouse model shows no gross anatomical abnormalities, were fertile and "healthy". No mentioned of ID, alopecia
PMID: 17389622 - K/O mouse model on the calcification resistant genetic background C57BL/6, shows uraemia and phosphate challenge. No mentioned of ID, alopecia

PMID: 31288248 - 1 hom infant (p.K2*, within 5' NMD escape region) with infantile cortical hyperostosis, loss of enzyme in patient serum shown by ELISA. No mentioned of ID, alopecia
Sources: Literature
Lysosomal Storage Disorder v1.5 VPS16 Ain Roesley gene: VPS16 was added
gene: VPS16 was added to Lysosomal Storage Disorder. Sources: Literature
Mode of inheritance for gene: VPS16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS16 were set to 33938619; 34013567; 34901436
Phenotypes for gene: VPS16 were set to mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Penetrance for gene: VPS16 were set to unknown
Review for gene: VPS16 was set to GREEN
gene: VPS16 was marked as current diagnostic
Added comment: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

also associated with AD dystonia
PMID:34901436 suggests dystonia is transcript specific
Sources: Literature
Mendeliome v0.12713 ADAM22 Lucy Spencer reviewed gene: ADAM22: Rating: GREEN; Mode of pathogenicity: None; Publications: 35373813; Phenotypes: Developmental and epileptic encephalopathy 61 (MIM#617933); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12713 VPS16 Ain Roesley Phenotypes for gene: VPS16 were changed from Dystonia 30, MIM#619291 to Dystonia 30, MIM#619291; mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365
Mendeliome v0.12712 VPS16 Ain Roesley Publications for gene: VPS16 were set to 32808683
Mendeliome v0.12712 VPS16 Ain Roesley Mode of inheritance for gene: VPS16 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12711 MDFIC Belinda Chong gene: MDFIC was added
gene: MDFIC was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to 35235341
Phenotypes for gene: MDFIC were set to Central conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a severe disorder often resulting in fetal or perinatal demise.

Seven individuals with CCLA from six independent families. Clinical manifestations of affected fetuses and children included nonimmune hydrops fetalis (NIHF), pleural and pericardial effusions, and lymphedema. Generation of a mouse model of human MDFIC truncation variants revealed that homozygous mutant mice died perinatally exhibiting chylothorax.
Sources: Literature
Mendeliome v0.12711 ATP2B1 Daniel Flanagan gene: ATP2B1 was added
gene: ATP2B1 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: ATP2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP2B1 were set to PMID: 35358416
Phenotypes for gene: ATP2B1 were set to Neurodevelopmental delay; autism; seizures; distal limb abnormalities
Review for gene: ATP2B1 was set to GREEN
Added comment: 12 unrelated individuals with variants in ATP2B1 and an overlapping phenotype of mild to moderate global development delay. Additional common symptoms include autism (5), dissimilar forms of seizures (6), and distal limb abnormalities (4). 9 variants proven to be de novo, other 3 variants had unknown inheritance. 9 missense and 3 nonsense reported. Supporting functional analysis for missense.
Sources: Expert list
Mendeliome v0.12711 VPS16 Ain Roesley changed review comment from: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below; to: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below

PMID:34901436 suggests dystonia is transcript specific
Mendeliome v0.12711 VPS16 Ain Roesley edited their review of gene: VPS16: Changed publications: 33938619, 34013567, 34901436
Mendeliome v0.12711 VPS16 Ain Roesley changed review comment from: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x het p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below; to: for AR MPS:
3 unrelated families - 2x hom c.2272‐18C>A and 1x hom p.Trp180Cys

RNA and functional studies done on the splice variant

for AD
see review below
Mendeliome v0.12711 TNFSF4 Zornitza Stark Marked gene: TNFSF4 as ready
Mendeliome v0.12711 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12711 TNFSF4 Zornitza Stark Phenotypes for gene: TNFSF4 were changed from to {Myocardial infarction, susceptibility to} 608446
Mendeliome v0.12710 TNFSF4 Zornitza Stark Mode of inheritance for gene: TNFSF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12709 VPS16 Ain Roesley reviewed gene: VPS16: Rating: GREEN; Mode of pathogenicity: None; Publications: 33938619, 34013567; Phenotypes: mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12709 TNFSF4 Zornitza Stark Classified gene: TNFSF4 as Red List (low evidence)
Mendeliome v0.12709 TNFSF4 Zornitza Stark Gene: tnfsf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12708 TNFSF4 Zornitza Stark reviewed gene: TNFSF4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Myocardial infarction, susceptibility to} 608446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12708 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Mendeliome v0.12708 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Mendeliome v0.12708 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2, MIM# 259710
Mendeliome v0.12707 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Marked gene: TNFSF11 as ready
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Gene: tnfsf11 has been classified as Green List (High Evidence).
Osteopetrosis v0.21 TNFSF11 Zornitza Stark Phenotypes for gene: TNFSF11 were changed from to Osteopetrosis, autosomal recessive 2 MIM#259710
Osteopetrosis v0.20 TNFSF11 Zornitza Stark Publications for gene: TNFSF11 were set to
Osteopetrosis v0.19 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12706 TNFSF11 Zornitza Stark Mode of inheritance for gene: TNFSF11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFSF11 Zornitza Stark edited their review of gene: TNFSF11: Changed publications: 17632511, 32048120, 10984520
Mendeliome v0.12705 TNFSF11 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, multiple families and mouse model.
Mendeliome v0.12705 TNFSF11 Zornitza Stark reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM# 259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Marked gene: TNFRSF11B as ready
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Gene: tnfrsf11b has been classified as Green List (High Evidence).
Mendeliome v0.12705 TNFRSF11B Zornitza Stark Phenotypes for gene: TNFRSF11B were changed from to Paget disease of bone 5, juvenile-onset, MIM# 239000
Mendeliome v0.12704 TNFRSF11B Zornitza Stark Publications for gene: TNFRSF11B were set to
Mendeliome v0.12703 TNFRSF11B Zornitza Stark Mode of inheritance for gene: TNFRSF11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TNFRSF11B Zornitza Stark reviewed gene: TNFRSF11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 14672344; Phenotypes: Paget disease of bone 5, juvenile-onset, MIM# 239000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12702 TMEM240 Zornitza Stark Marked gene: TMEM240 as ready
Mendeliome v0.12702 TMEM240 Zornitza Stark Gene: tmem240 has been classified as Green List (High Evidence).
Mendeliome v0.12702 TMEM240 Zornitza Stark Phenotypes for gene: TMEM240 were changed from to Spinocerebellar ataxia 21, MIM# 607454
Mendeliome v0.12701 TMEM240 Zornitza Stark Publications for gene: TMEM240 were set to
Mendeliome v0.12700 TMEM240 Zornitza Stark Mode of inheritance for gene: TMEM240 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12699 TMEM127 Zornitza Stark Marked gene: TMEM127 as ready
Mendeliome v0.12699 TMEM127 Zornitza Stark Gene: tmem127 has been classified as Green List (High Evidence).
Mendeliome v0.12699 TMEM127 Zornitza Stark Phenotypes for gene: TMEM127 were changed from to {Pheochromocytoma, susceptibility to} 171300
Mendeliome v0.12698 TMEM127 Zornitza Stark Mode of inheritance for gene: TMEM127 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12697 TMEM127 Zornitza Stark reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Pheochromocytoma, susceptibility to} 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Mitochondrial disease v0.781 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Mitochondrial disease v0.780 TMEM126B Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.779 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12697 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Mendeliome v0.12697 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Gastrointestinal neuromuscular disease v1.18 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12697 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Mendeliome v0.12696 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Mendeliome v0.12695 TMEM126B Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12694 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12694 TMEM106B Zornitza Stark Marked gene: TMEM106B as ready
Mendeliome v0.12694 TMEM106B Zornitza Stark Gene: tmem106b has been classified as Green List (High Evidence).
Mendeliome v0.12694 TMEM106B Zornitza Stark Phenotypes for gene: TMEM106B were changed from to Leukodystrophy, hypomyelinating, 16, MIM# 617964
Mendeliome v0.12693 TMEM106B Zornitza Stark Publications for gene: TMEM106B were set to
Mendeliome v0.12692 TMEM106B Zornitza Stark Mode of inheritance for gene: TMEM106B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12691 TMEM106B Zornitza Stark changed review comment from: Cerebellar signs including ataxia prominent.; to: Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum.

At least 5 unrelated individuals reported.
Mendeliome v0.12691 RAPSN Zornitza Stark Marked gene: RAPSN as ready
Mendeliome v0.12691 RAPSN Zornitza Stark Gene: rapsn has been classified as Green List (High Evidence).
Mendeliome v0.12691 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from to Fetal akinesia deformation sequence 2 (MIM#618388); Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326)
Mendeliome v0.12690 RAPSN Zornitza Stark Publications for gene: RAPSN were set to
Mendeliome v0.12689 RAPSN Zornitza Stark Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.252 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12688 RAD51C Zornitza Stark Marked gene: RAD51C as ready
Mendeliome v0.12688 RAD51C Zornitza Stark Gene: rad51c has been classified as Green List (High Evidence).
Leukodystrophy v0.251 LIG3 Zornitza Stark edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mitochondrial disease v0.779 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mitochondrial disease v0.778 LIG3 Zornitza Stark reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1535 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from mitochondrial neurogastrointestinal encephalomyopathy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12688 RAD51C Zornitza Stark Phenotypes for gene: RAD51C were changed from to Fanconi anaemia, complementation group O (MIM#613390)
Mendeliome v0.12687 RAD51C Zornitza Stark Publications for gene: RAD51C were set to
Genetic Epilepsy v0.1534 LIG3 Zornitza Stark reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12686 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mendeliome v0.12685 RAD51C Zornitza Stark Mode of inheritance for gene: RAD51C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12684 SLC25A26 Zornitza Stark Marked gene: SLC25A26 as ready
Mendeliome v0.12684 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
Mendeliome v0.12684 LIG3 Zornitza Stark edited their review of gene: LIG3: Changed phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Marked gene: SLC25A26 as ready
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from Combined oxidative phosphorylation deficiency 28, MIM# 616794 to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mendeliome v0.12684 GGN Zornitza Stark Marked gene: GGN as ready
Mendeliome v0.12684 GGN Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12684 GGN Zornitza Stark Classified gene: GGN as Amber List (moderate evidence)
Mendeliome v0.12684 GGN Zornitza Stark Gene: ggn has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12683 GGN Zornitza Stark gene: GGN was added
gene: GGN was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GGN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GGN were set to 31985809; 33108537
Phenotypes for gene: GGN were set to Spermatogenic failure 69, MIM# 619826
Review for gene: GGN was set to AMBER
Added comment: Three individuals from two unrelated families reported.
Sources: Literature
Mitochondrial disease v0.777 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mitochondrial disease v0.776 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Mitochondrial disease v0.775 SLC25A26 Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.774 SLC25A26 Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12682 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mendeliome v0.12681 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Mendeliome v0.12680 SLC25A26 Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12679 SLC25A26 Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12679 SLC25A3 Zornitza Stark Marked gene: SLC25A3 as ready
Mendeliome v0.12679 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Marked gene: SLC25A3 as ready
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mitochondrial disease v0.773 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12679 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mitochondrial disease v0.771 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12678 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mendeliome v0.12677 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Mitochondrial disease v0.770 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Mendeliome v0.12676 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 RAPSN Crystle Lee reviewed gene: RAPSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 18252226, 19620612, 22482962, 28495245, 18179903, 28495245; Phenotypes: Fetal akinesia deformation sequence 2 (MIM#618388), Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12676 RAD51C Crystle Lee reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: None; Publications: 29278735, 20400963, 22167183; Phenotypes: Fanconi anemia, complementation group O (MIM#613390); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.769 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Mendeliome v0.12676 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Mendeliome v0.12676 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.768 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.767 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12676 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Mendeliome v0.12675 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Mendeliome v0.12674 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12673 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12673 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Mendeliome v0.12673 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Regression v0.465 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Regression v0.465 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Regression v0.465 SLC25A42 Zornitza Stark Classified gene: SLC25A42 as Green List (high evidence)
Regression v0.465 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Regression v0.464 SLC25A42 Zornitza Stark gene: SLC25A42 was added
gene: SLC25A42 was added to Regression. Sources: Expert Review
founder tags were added to gene: SLC25A42.
Mode of inheritance for gene: SLC25A42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A42 were set to 26541337; 29327420; 29923093; 34258143
Phenotypes for gene: SLC25A42 were set to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Review for gene: SLC25A42 was set to GREEN
Added comment: Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia.

Sixteen individuals reported, 14 with the same founder variant, c.871A > G:p.Asn291Asp. Two additional variants reported in another two individuals.
Sources: Expert Review
Mitochondrial disease v0.766 SLC25A42 Zornitza Stark Publications for gene: SLC25A42 were set to
Mitochondrial disease v0.765 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.764 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark Tag founder tag was added to gene: SLC25A42.
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12673 SLC25A42 Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Mendeliome v0.12672 SLC25A42 Zornitza Stark Publications for gene: SLC25A42 were set to
Mendeliome v0.12671 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12670 SLC25A42 Zornitza Stark Tag founder tag was added to gene: SLC25A42.
Mendeliome v0.12670 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12670 SLC2A10 Zornitza Stark Marked gene: SLC2A10 as ready
Mendeliome v0.12670 SLC2A10 Zornitza Stark Gene: slc2a10 has been classified as Green List (High Evidence).
Mendeliome v0.12670 SLC2A10 Zornitza Stark Phenotypes for gene: SLC2A10 were changed from to Arterial tortuosity syndrome, MIM# 208050
Mendeliome v0.12669 SLC2A10 Zornitza Stark Publications for gene: SLC2A10 were set to
Mendeliome v0.12668 SLC2A10 Zornitza Stark Mode of inheritance for gene: SLC2A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12667 SLC2A10 Zornitza Stark reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 16550171, 17935213; Phenotypes: Arterial tortuosity syndrome, MIM# 208050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12667 SLC2A2 Zornitza Stark changed review comment from: Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.; to: Fanconi-Bickel syndrome is characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose.

> 5 patients previously reported with the associated condition, which is a glycogen storage disease. SLC2A2 encodes for the glucose transporter, GLUT2.
Mendeliome v0.12667 SLC2A2 Zornitza Stark Marked gene: SLC2A2 as ready
Mendeliome v0.12667 SLC2A2 Zornitza Stark Gene: slc2a2 has been classified as Green List (High Evidence).
Mendeliome v0.12667 SLC2A2 Zornitza Stark Phenotypes for gene: SLC2A2 were changed from to Fanconi-Bickel syndrome, MIM# 227810
Mendeliome v0.12666 SLC2A2 Zornitza Stark Publications for gene: SLC2A2 were set to
Mendeliome v0.12665 SLC2A2 Zornitza Stark Mode of inheritance for gene: SLC2A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12664 SLC2A2 Zornitza Stark reviewed gene: SLC2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30950137, 22145468; Phenotypes: Fanconi-Bickel syndrome, MIM# 227810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12664 SLC2A3 Zornitza Stark Marked gene: SLC2A3 as ready
Mendeliome v0.12664 SLC2A3 Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12664 SLC2A3 Zornitza Stark Classified gene: SLC2A3 as Red List (low evidence)
Mendeliome v0.12664 SLC2A3 Zornitza Stark Gene: slc2a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12663 SLC2A3 Zornitza Stark reviewed gene: SLC2A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12663 SLC2A4 Zornitza Stark Marked gene: SLC2A4 as ready
Mendeliome v0.12663 SLC2A4 Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
Mendeliome v0.12663 SLC2A4 Zornitza Stark Classified gene: SLC2A4 as Red List (low evidence)
Mendeliome v0.12663 SLC2A4 Zornitza Stark Gene: slc2a4 has been classified as Red List (Low Evidence).
Mendeliome v0.12662 SLC2A4 Zornitza Stark reviewed gene: SLC2A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12662 SORT1 Zornitza Stark Marked gene: SORT1 as ready
Mendeliome v0.12662 SORT1 Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
Mendeliome v0.12662 SORT1 Zornitza Stark Phenotypes for gene: SORT1 were changed from to Low density lipoprotein cholesterol level QTL6] 613589
Mendeliome v0.12661 SORT1 Zornitza Stark Mode of inheritance for gene: SORT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12660 SORT1 Zornitza Stark Classified gene: SORT1 as Red List (low evidence)
Mendeliome v0.12660 SORT1 Zornitza Stark Gene: sort1 has been classified as Red List (Low Evidence).
Mendeliome v0.12659 SORT1 Zornitza Stark reviewed gene: SORT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Low density lipoprotein cholesterol level QTL6] 613589; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12659 SOX10 Zornitza Stark Marked gene: SOX10 as ready
Mendeliome v0.12659 SOX10 Zornitza Stark Gene: sox10 has been classified as Green List (High Evidence).
Mendeliome v0.12659 SOX10 Zornitza Stark Phenotypes for gene: SOX10 were changed from to Kallman syndrome; PCWH syndrome (MIM#609136); Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584); Waardenburg syndrome, type 4C (MIM#613266)
Mendeliome v0.12658 SOX10 Zornitza Stark Publications for gene: SOX10 were set to
Mendeliome v0.12657 SOX10 Zornitza Stark Mode of inheritance for gene: SOX10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX10 Zornitza Stark reviewed gene: SOX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23643381, 24845202; Phenotypes: Kallman syndrome, PCWH syndrome (MIM#609136), Waardenburg syndrome, type 2E, with or without neurologic involvement (MIM#611584), Waardenburg syndrome, type 4C (MIM#613266); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX17 Zornitza Stark edited their review of gene: SOX17: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12656 SOX17 Zornitza Stark Marked gene: SOX17 as ready
Mendeliome v0.12656 SOX17 Zornitza Stark Gene: sox17 has been classified as Green List (High Evidence).
Mendeliome v0.12656 SOX17 Zornitza Stark Phenotypes for gene: SOX17 were changed from to Vesicoureteral reflux 3 MIM#613674; Pulmonary arterial hypertension, MONDO:0015924
Mendeliome v0.12655 SOX17 Zornitza Stark Publications for gene: SOX17 were set to
Mendeliome v0.12654 SOX17 Zornitza Stark Mode of inheritance for gene: SOX17 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12653 SOX17 Zornitza Stark reviewed gene: SOX17: Rating: GREEN; Mode of pathogenicity: None; Publications: 29650961, 31406341, 20960469; Phenotypes: Vesicoureteral reflux 3 MIM#613674, Pulmonary arterial hypertension, MONDO:0015924; Mode of inheritance: None
Mendeliome v0.12653 SOX18 Zornitza Stark Marked gene: SOX18 as ready
Mendeliome v0.12653 SOX18 Zornitza Stark Gene: sox18 has been classified as Green List (High Evidence).
Mendeliome v0.12653 SOX18 Zornitza Stark Phenotypes for gene: SOX18 were changed from to Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Mendeliome v0.12652 SOX18 Zornitza Stark Publications for gene: SOX18 were set to
Mendeliome v0.12651 SOX18 Zornitza Stark Mode of inheritance for gene: SOX18 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12650 SOX18 Zornitza Stark reviewed gene: SOX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 12740761, 24697860, 2484451, 26148450, 33851505; Phenotypes: Hypotrichosis-lymphedema-telangiectasia syndrome, MIM# 607823, Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12650 SOX5 Zornitza Stark Marked gene: SOX5 as ready
Mendeliome v0.12650 SOX5 Zornitza Stark Gene: sox5 has been classified as Green List (High Evidence).
Mendeliome v0.12650 SOX5 Zornitza Stark Phenotypes for gene: SOX5 were changed from to Lamb-Shaffer syndrome, MIM# 616803
Mendeliome v0.12649 SOX5 Zornitza Stark Publications for gene: SOX5 were set to
Mendeliome v0.12648 SOX5 Zornitza Stark Mode of inheritance for gene: SOX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4653 SOX5 Zornitza Stark Tag SV/CNV tag was added to gene: SOX5.
Mendeliome v0.12647 SOX5 Zornitza Stark Tag SV/CNV tag was added to gene: SOX5.
Mendeliome v0.12647 SOX5 Zornitza Stark reviewed gene: SOX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22290657, 23220431; Phenotypes: Lamb-Shaffer syndrome, MIM# 616803; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12647 SOX9 Zornitza Stark Marked gene: SOX9 as ready
Mendeliome v0.12647 SOX9 Zornitza Stark Gene: sox9 has been classified as Green List (High Evidence).
Mendeliome v0.12647 SOX9 Zornitza Stark Phenotypes for gene: SOX9 were changed from to Campomelic dysplasia, MIM# 114290; Campomelic dysplasia, MONDO:0007251
Mendeliome v0.12646 SOX9 Zornitza Stark Publications for gene: SOX9 were set to
Mendeliome v0.12645 SOX9 Zornitza Stark edited their review of gene: SOX9: Changed publications: 20301724
Mendeliome v0.12645 SOX9 Zornitza Stark Mode of inheritance for gene: SOX9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12644 SOX9 Zornitza Stark reviewed gene: SOX9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Campomelic dysplasia, MIM# 114290, Campomelic dysplasia, MONDO:0007251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Marked gene: SP7 as ready
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Gene: sp7 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.81 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Osteogenesis Imperfecta and Osteoporosis v0.80 SP7 Zornitza Stark Publications for gene: SP7 were set to
Osteogenesis Imperfecta and Osteoporosis v0.79 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.78 SP7 Zornitza Stark reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12644 NKX2-1 Zornitza Stark reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978, Chorea, hereditary benign MIM#118700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12644 SP7 Zornitza Stark Marked gene: SP7 as ready
Mendeliome v0.12644 SP7 Zornitza Stark Gene: sp7 has been classified as Green List (High Evidence).
Mendeliome v0.12644 SP7 Zornitza Stark Phenotypes for gene: SP7 were changed from to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849
Mendeliome v0.12643 SP7 Zornitza Stark Publications for gene: SP7 were set to
Mendeliome v0.12642 SP7 Zornitza Stark Mode of inheritance for gene: SP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12641 SP7 Zornitza Stark reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 20579626, 29382611, 35367406, 34091789, 32413570; Phenotypes: Osteogenesis imperfecta type 12, MONDO:0013460, Osteogenesis imperfecta, type XII, OMIM:613849; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12641 SPAG7 Zornitza Stark Marked gene: SPAG7 as ready
Mendeliome v0.12641 SPAG7 Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
Mendeliome v0.12641 SPAG7 Zornitza Stark Phenotypes for gene: SPAG7 were changed from to Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome, MONDO:0018540
Mendeliome v0.12640 SPAG7 Zornitza Stark Publications for gene: SPAG7 were set to
Mendeliome v0.12639 SPAG7 Zornitza Stark Mode of inheritance for gene: SPAG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12638 SPAG7 Zornitza Stark Classified gene: SPAG7 as Red List (low evidence)
Mendeliome v0.12638 SPAG7 Zornitza Stark Gene: spag7 has been classified as Red List (Low Evidence).
Mendeliome v0.12637 SPAG7 Zornitza Stark reviewed gene: SPAG7: Rating: RED; Mode of pathogenicity: None; Publications: 24452265; Phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenopathy (PFAPA) syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12637 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Mendeliome v0.12637 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mendeliome v0.12637 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Mendeliome v0.12636 SPATA5 Zornitza Stark Publications for gene: SPATA5 were set to
Mendeliome v0.12635 SPATA5 Zornitza Stark Mode of inheritance for gene: SPATA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4653 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities MIM#616577
Mendeliome v0.12634 SPATA5 Zornitza Stark reviewed gene: SPATA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 30009132, 29343804; Phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4652 SPATA5 Zornitza Stark edited their review of gene: SPATA5: Changed phenotypes: Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities 616577
Mendeliome v0.12634 SPECC1L Zornitza Stark Marked gene: SPECC1L as ready
Mendeliome v0.12634 SPECC1L Zornitza Stark Gene: specc1l has been classified as Green List (High Evidence).
Mendeliome v0.12634 SPECC1L Zornitza Stark Phenotypes for gene: SPECC1L were changed from to Hypertelorism, Teebi type, MIM# 145420; Opitz GBBB syndrome, type II, MIM#145410
Mendeliome v0.12633 SPECC1L Zornitza Stark Publications for gene: SPECC1L were set to
Mendeliome v0.12632 SPECC1L Zornitza Stark Mode of inheritance for gene: SPECC1L was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12631 SPECC1L Zornitza Stark Deleted their comment
Mendeliome v0.12631 SPECC1L Zornitza Stark edited their review of gene: SPECC1L: Added comment: Well established gene-disease associations with Teebi and Opitz GBBB.

Single individual reported with oblique facial cleft, some supportive functional data.; Changed publications: 25412741, 26111080, 21703590; Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410
Mendeliome v0.12631 SPECC1L Zornitza Stark edited their review of gene: SPECC1L: Changed phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410, Craniosynostosis
Mendeliome v0.12631 SPECC1L Zornitza Stark reviewed gene: SPECC1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25412741; Phenotypes: Hypertelorism, Teebi type, MIM# 145420, Opitz GBBB syndrome, type II, MIM#145410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12631 SSR4 Zornitza Stark Marked gene: SSR4 as ready
Mendeliome v0.12631 SSR4 Zornitza Stark Gene: ssr4 has been classified as Green List (High Evidence).
Mendeliome v0.12631 SSR4 Zornitza Stark Phenotypes for gene: SSR4 were changed from to Congenital disorder of glycosylation, type Iy, MIM# 300934
Mendeliome v0.12630 SSR4 Zornitza Stark Publications for gene: SSR4 were set to
Mendeliome v0.12629 SSR4 Zornitza Stark Mode of inheritance for gene: SSR4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12628 SSR4 Zornitza Stark reviewed gene: SSR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24218363, 26264460, 33300232; Phenotypes: Congenital disorder of glycosylation, type Iy, MIM# 300934; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12628 SRY Zornitza Stark Marked gene: SRY as ready
Mendeliome v0.12628 SRY Zornitza Stark Gene: sry has been classified as Green List (High Evidence).
Mendeliome v0.12628 SRY Zornitza Stark Phenotypes for gene: SRY were changed from to 46XX sex reversal 1, MIM# 400045; 46XY sex reversal 1 , MIM#400044
Mendeliome v0.12627 SRY Zornitza Stark Publications for gene: SRY were set to
Mendeliome v0.12626 SRY Zornitza Stark Mode of inheritance for gene: SRY was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12625 SRY Zornitza Stark reviewed gene: SRY: Rating: GREEN; Mode of pathogenicity: None; Publications: 9143916, 15863672; Phenotypes: 46XX sex reversal 1, MIM# 400045, 46XY sex reversal 1 , MIM#400044; 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 v0.12625 SRP54 Zornitza Stark Marked gene: SRP54 as ready
Mendeliome v0.12625 SRP54 Zornitza Stark Gene: srp54 has been classified as Green List (High Evidence).
Mendeliome v0.12625 SRP54 Zornitza Stark Phenotypes for gene: SRP54 were changed from to Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752
Mendeliome v0.12624 SRP54 Zornitza Stark Publications for gene: SRP54 were set to
Mendeliome v0.12623 SRP54 Zornitza Stark Mode of inheritance for gene: SRP54 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12622 SRP54 Zornitza Stark reviewed gene: SRP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 29914977, 28972538; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.248 SRD5A2 Zornitza Stark Marked gene: SRD5A2 as ready
Differences of Sex Development v0.248 SRD5A2 Zornitza Stark Gene: srd5a2 has been classified as Green List (High Evidence).
Differences of Sex Development v0.248 SRD5A2 Zornitza Stark Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600
Differences of Sex Development v0.247 SRD5A2 Zornitza Stark Publications for gene: SRD5A2 were set to
Differences of Sex Development v0.246 SRD5A2 Zornitza Stark Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.245 SRD5A2 Zornitza Stark reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12622 SRD5A2 Zornitza Stark Marked gene: SRD5A2 as ready
Mendeliome v0.12622 SRD5A2 Zornitza Stark Gene: srd5a2 has been classified as Green List (High Evidence).
Mendeliome v0.12622 SRD5A2 Zornitza Stark Phenotypes for gene: SRD5A2 were changed from to Pseudovaginal perineoscrotal hypospadias, MIM# 264600
Mendeliome v0.12621 SRD5A2 Zornitza Stark Publications for gene: SRD5A2 were set to
Mendeliome v0.12620 SRD5A2 Zornitza Stark Mode of inheritance for gene: SRD5A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12619 SRD5A2 Zornitza Stark reviewed gene: SRD5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 1944596, 12843198, 35331321, 35154247, 35135181; Phenotypes: Pseudovaginal perineoscrotal hypospadias, MIM# 264600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12619 SPRY1 Zornitza Stark Marked gene: SPRY1 as ready
Mendeliome v0.12619 SPRY1 Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
Mendeliome v0.12619 SPRY1 Zornitza Stark Classified gene: SPRY1 as Red List (low evidence)
Mendeliome v0.12619 SPRY1 Zornitza Stark Gene: spry1 has been classified as Red List (Low Evidence).
Mendeliome v0.12618 SPRY1 Zornitza Stark reviewed gene: SPRY1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12618 SPINK5 Zornitza Stark Marked gene: SPINK5 as ready
Mendeliome v0.12618 SPINK5 Zornitza Stark Gene: spink5 has been classified as Green List (High Evidence).
Mendeliome v0.12618 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from to Netherton syndrome MIM# 256500
Mendeliome v0.12617 SPINK5 Zornitza Stark Publications for gene: SPINK5 were set to
Mendeliome v0.12616 SPINK5 Zornitza Stark Mode of inheritance for gene: SPINK5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12615 SPINK5 Zornitza Stark reviewed gene: SPINK5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Netherton syndrome MIM# 256500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12615 SPINK1 Zornitza Stark Marked gene: SPINK1 as ready
Mendeliome v0.12615 SPINK1 Zornitza Stark Gene: spink1 has been classified as Green List (High Evidence).
Mendeliome v0.12615 SPINK1 Zornitza Stark Phenotypes for gene: SPINK1 were changed from to Tropical calcific pancreatitis, MIM# 608189; Pancreatitis, hereditary, MIM# 167800
Mendeliome v0.12614 SPINK1 Zornitza Stark Publications for gene: SPINK1 were set to
Mendeliome v0.12613 SPINK1 Zornitza Stark Mode of inheritance for gene: SPINK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12612 SPINK1 Zornitza Stark reviewed gene: SPINK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10835640, 11355022, 11938439, 16823394, 17274009, 27535533; Phenotypes: Tropical calcific pancreatitis, MIM# 608189, Pancreatitis, hereditary, MIM# 167800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12612 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM# 607259 to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250
Mendeliome v0.12611 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12610 SPG7 Zornitza Stark changed review comment from: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.

Well established for bi-allelic variants.

Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.; to: SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes.

Well established for bi-allelic variants.

Enrichment of mono-allelic variants reported in a couple of cohorts, although a recent one suggests digenic inheritance.

Association with OA: 7 families reported for AD OA, including 5 missense and 2 frameshift variants, PMID 32548275
Mendeliome v0.12610 SPG7 Zornitza Stark edited their review of gene: SPG7: Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275; Changed phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259, Autosomal dominant optic atrophy, MONDO:0020250; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12610 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Mendeliome v0.12610 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Mendeliome v0.12610 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259
Mendeliome v0.12609 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Mendeliome v0.12608 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12607 SPG7 Zornitza Stark reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12607 RSPO4 Zornitza Stark Marked gene: RSPO4 as ready
Mendeliome v0.12607 RSPO4 Zornitza Stark Gene: rspo4 has been classified as Green List (High Evidence).
Mendeliome v0.12607 RSPO4 Zornitza Stark Phenotypes for gene: RSPO4 were changed from to Anonychia congenita MIM# 206800
Mendeliome v0.12606 RSPO4 Zornitza Stark Publications for gene: RSPO4 were set to
Mendeliome v0.12605 RSPO4 Zornitza Stark Mode of inheritance for gene: RSPO4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12604 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Mendeliome v0.12604 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Mendeliome v0.12604 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Mendeliome v0.12603 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Mendeliome v0.12602 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12601 RUNX1 Zornitza Stark Marked gene: RUNX1 as ready
Mendeliome v0.12601 RUNX1 Zornitza Stark Gene: runx1 has been classified as Green List (High Evidence).
Mendeliome v0.12601 RUNX1 Zornitza Stark Phenotypes for gene: RUNX1 were changed from to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399; Leukemia, acute myeloid, MIM# 601626
Mendeliome v0.12600 RUNX1 Zornitza Stark Publications for gene: RUNX1 were set to
Mendeliome v0.12599 RUNX1 Zornitza Stark Mode of inheritance for gene: RUNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12598 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Mendeliome v0.12598 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Mendeliome v0.12598 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to Coloboma of optic nerve - MIM# 120430; Coloboma, ocular - MIM#120200; Morning glory disc anomaly - MIM#120430; Aniridia - MIM#106210; Anterior segment dysgenesis 5, multiple subtypes - MIM#604229; Cataract with late-onset corneal dystrophy - MIM#106210; Foveal hypoplasia 1- MIM#136520; Keratitis - MIM#148190; Optic nerve hypoplasia - MIM#165550
Mendeliome v0.12597 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Mendeliome v0.12596 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12595 PAX2 Zornitza Stark Marked gene: PAX2 as ready
Mendeliome v0.12595 PAX2 Zornitza Stark Gene: pax2 has been classified as Green List (High Evidence).
Mendeliome v0.12595 PAX2 Zornitza Stark Phenotypes for gene: PAX2 were changed from to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352; Glomerulosclerosis, focal segmental, 7 - MIM#616002
Mendeliome v0.12594 PAX2 Zornitza Stark Publications for gene: PAX2 were set to
Mendeliome v0.12593 PAX2 Zornitza Stark Mode of inheritance for gene: PAX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12592 TSEN15 Zornitza Stark Marked gene: TSEN15 as ready
Mendeliome v0.12592 TSEN15 Zornitza Stark Gene: tsen15 has been classified as Green List (High Evidence).
Mendeliome v0.12592 TSEN15 Zornitza Stark Phenotypes for gene: TSEN15 were changed from to Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874
Mendeliome v0.12591 TSEN15 Zornitza Stark Publications for gene: TSEN15 were set to
Mendeliome v0.12590 TSEN15 Zornitza Stark Mode of inheritance for gene: TSEN15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12589 TSEN15 Zornitza Stark reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12589 RAB33B Zornitza Stark Marked gene: RAB33B as ready
Mendeliome v0.12589 RAB33B Zornitza Stark Gene: rab33b has been classified as Green List (High Evidence).
Mendeliome v0.12589 RAB33B Zornitza Stark Phenotypes for gene: RAB33B were changed from to Smith-McCort dysplasia 2 (MIM#615222)
Mendeliome v0.12588 RAB33B Zornitza Stark Publications for gene: RAB33B were set to
Mendeliome v0.12587 RAB33B Zornitza Stark Mode of inheritance for gene: RAB33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Marked gene: RAB28 as ready
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Gene: rab28 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.41 RAB28 Zornitza Stark Publications for gene: RAB28 were set to 30679166
Mendeliome v0.12586 RAB28 Zornitza Stark Marked gene: RAB28 as ready
Mendeliome v0.12586 RAB28 Zornitza Stark Gene: rab28 has been classified as Green List (High Evidence).
Mendeliome v0.12586 RAB28 Zornitza Stark Phenotypes for gene: RAB28 were changed from to Cone-rod dystrophy 18 (MIM#615374)
Mendeliome v0.12585 RAB28 Zornitza Stark Publications for gene: RAB28 were set to
Mendeliome v0.12584 RAB28 Zornitza Stark Mode of inheritance for gene: RAB28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12583 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Mendeliome v0.12583 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Mendeliome v0.12583 PAM16 Zornitza Stark Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320
Mendeliome v0.12582 PAM16 Zornitza Stark Publications for gene: PAM16 were set to
Mendeliome v0.12581 PAM16 Zornitza Stark Mode of inheritance for gene: PAM16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12580 PALLD Zornitza Stark Marked gene: PALLD as ready
Mendeliome v0.12580 PALLD Zornitza Stark Gene: palld has been classified as Red List (Low Evidence).
Mendeliome v0.12580 PALLD Zornitza Stark Classified gene: PALLD as Red List (low evidence)
Mendeliome v0.12580 PALLD Zornitza Stark Gene: palld has been classified as Red List (Low Evidence).
Mendeliome v0.12579 ANKH Zornitza Stark Mode of inheritance for gene: ANKH was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12578 AMPD3 Zornitza Stark Marked gene: AMPD3 as ready
Mendeliome v0.12578 AMPD3 Zornitza Stark Gene: ampd3 has been classified as Red List (Low Evidence).
Mendeliome v0.12578 AMPD3 Zornitza Stark Phenotypes for gene: AMPD3 were changed from to [AMP deaminase deficiency, erythrocytic] MIM#612874
Mendeliome v0.12577 AMPD3 Zornitza Stark Publications for gene: AMPD3 were set to
Mendeliome v0.12576 AMPD3 Zornitza Stark Mode of inheritance for gene: AMPD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12575 AMPD3 Zornitza Stark Classified gene: AMPD3 as Red List (low evidence)
Mendeliome v0.12575 AMPD3 Zornitza Stark Gene: ampd3 has been classified as Red List (Low Evidence).
Mendeliome v0.12574 AMPD3 Zornitza Stark reviewed gene: AMPD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: None
Autoinflammatory Disorders v0.141 PIK3CG Zornitza Stark Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Autoinflammatory Disorders v0.140 PIK3CG Zornitza Stark edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis
Mendeliome v0.12574 PIK3CG Zornitza Stark Phenotypes for gene: PIK3CG were changed from Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis to Immunodeficiency 97 with autoinflammation, MIM# 619802; Immune dysregulation; HLH-like; childhood-onset antibody defects; cytopenias; T lymphocytic pneumonitis and colitis
Mendeliome v0.12573 PIK3CG Zornitza Stark edited their review of gene: PIK3CG: Changed phenotypes: Immunodeficiency 97 with autoinflammation, MIM# 619802, Immune dysregulation, HLH-like, childhood-onset antibody defects, cytopenias, T lymphocytic pneumonitis and colitis
Incidentalome v0.88 THSD4 Zornitza Stark Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825
Incidentalome v0.87 THSD4 Zornitza Stark edited their review of gene: THSD4: Changed phenotypes: Aortic aneurysm, familial thoracic 12, MIM# 619825
Aortopathy_Connective Tissue Disorders v1.67 THSD4 Zornitza Stark Marked gene: THSD4 as ready
Aortopathy_Connective Tissue Disorders v1.67 THSD4 Zornitza Stark Gene: thsd4 has been classified as Green List (High Evidence).
Aortopathy_Connective Tissue Disorders v1.67 THSD4 Zornitza Stark Phenotypes for gene: THSD4 were changed from Thoracic aortic aneurysm and dissection (TAAD) to Aortic aneurysm, familial thoracic 12, MIM# 619825
Aortopathy_Connective Tissue Disorders v1.66 THSD4 Zornitza Stark reviewed gene: THSD4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 12, MIM# 619825; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12573 RSPO4 Belinda Chong reviewed gene: RSPO4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17041604, 17914448, 18070203; Phenotypes: Anonychia congenita MIM# 206800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12573 RTN4IP1 Belinda Chong reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26593267, 31077085; Phenotypes: Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12573 RUNX1 Belinda Chong reviewed gene: RUNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10508512, 11830488; Phenotypes: Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399, Leukemia, acute myeloid, MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12573 PAX6 Krithika Murali reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31700164, 30986449, 29930474, 22171686; Phenotypes: ?Coloboma of optic nerve - MIM# 120430, ?Coloboma, ocular - MIM#120200, ?Morning glory disc anomaly - MIM#120430, Aniridia - MIM#106210, Anterior segment dysgenesis 5, multiple subtypes - MIM#604229, Cataract with late-onset corneal dystrophy - MIM#106210, Foveal hypoplasia 1- MIM#136520, Keratitis - MIM#148190, Optic nerve hypoplasia - MIM#165550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12573 PAX2 Krithika Murali reviewed gene: PAX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654726, 24676634, 31060108, 32203253; Phenotypes: Papillorenal syndrome, MIM# 120330, Renal coloboma syndrome, MONDO:0007352, Glomerulosclerosis, focal segmental, 7 - MIM#616002; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12573 TSEN15 Manny Jacobs reviewed gene: TSEN15: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, MIM # 617026, MONDO:0014874; Mode of inheritance: None
Mendeliome v0.12573 RAB33B Crystle Lee reviewed gene: RAB33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 22652534, 28127940, 23042644, 34284742; Phenotypes: Smith-McCort dysplasia 2 (MIM#615222); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12573 ALMS1 Zornitza Stark Phenotypes for gene: ALMS1 were changed from to Alstrom syndrome MIM#203800
Mendeliome v0.12572 ALMS1 Zornitza Stark Mode of inheritance for gene: ALMS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12571 SERPINC1 Zornitza Stark Marked gene: SERPINC1 as ready
Mendeliome v0.12571 SERPINC1 Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence).
Mendeliome v0.12571 SERPINC1 Zornitza Stark Phenotypes for gene: SERPINC1 were changed from to hereditary antithrombin deficiency MONDO:0013144; Thrombophilia 7 due to antithrombin III deficiency, MIM#613118
Mendeliome v0.12570 SERPINC1 Zornitza Stark Publications for gene: SERPINC1 were set to
Mendeliome v0.12569 SERPINC1 Zornitza Stark Mode of inheritance for gene: SERPINC1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cone-rod Dystrophy v0.40 RAB28 Crystle Lee reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12568 RAB28 Crystle Lee reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: None; Publications: 25356532, 33396523, 32084271, 23746546; Phenotypes: Cone-rod dystrophy 18 (MIM#615374); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12568 SERPINB8 Zornitza Stark Marked gene: SERPINB8 as ready
Mendeliome v0.12568 SERPINB8 Zornitza Stark Gene: serpinb8 has been classified as Green List (High Evidence).
Mendeliome v0.12568 SERPINB8 Zornitza Stark Phenotypes for gene: SERPINB8 were changed from to Peeling skin syndrome 5, MIM#617115
Mendeliome v0.12567 SERPINB8 Zornitza Stark Publications for gene: SERPINB8 were set to
Mendeliome v0.12566 SERPINB8 Zornitza Stark Mode of inheritance for gene: SERPINB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12565 SERPINB6 Zornitza Stark Marked gene: SERPINB6 as ready
Mendeliome v0.12565 SERPINB6 Zornitza Stark Gene: serpinb6 has been classified as Green List (High Evidence).
Mendeliome v0.12565 SERPINB6 Zornitza Stark Phenotypes for gene: SERPINB6 were changed from to Deafness, autosomal recessive 91, MIM# 613453
Mendeliome v0.12564 SERPINB6 Zornitza Stark Publications for gene: SERPINB6 were set to
Mendeliome v0.12563 SERPINB6 Zornitza Stark Mode of inheritance for gene: SERPINB6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12562 PNPT1 Zornitza Stark Publications for gene: PNPT1 were set to 31752325; 30244537; 28594066; 28645153
Mendeliome v0.12561 PAM16 Krithika Murali reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 24786642, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM # 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12561 PALLD Krithika Murali reviewed gene: PALLD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12561 CCM2 Ain Roesley Marked gene: CCM2 as ready
Mendeliome v0.12561 CCM2 Ain Roesley Gene: ccm2 has been classified as Green List (High Evidence).
Mendeliome v0.12561 CCM2 Ain Roesley Phenotypes for gene: CCM2 were changed from to Cerebral cavernous malformations-2 MIM#603284
Mendeliome v0.12560 CCM2 Ain Roesley Publications for gene: CCM2 were set to
Mendeliome v0.12560 CCM2 Ain Roesley Mode of inheritance for gene: CCM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12559 CCM2 Ain Roesley reviewed gene: CCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14624391, 18779516, 30356112, 21543988; Phenotypes: Cerebral cavernous malformations-2 MIM#603284; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12559 CCL2 Ain Roesley Marked gene: CCL2 as ready
Mendeliome v0.12559 CCL2 Ain Roesley Gene: ccl2 has been classified as Red List (Low Evidence).
Mendeliome v0.12559 CCL2 Ain Roesley Phenotypes for gene: CCL2 were changed from to {HIV-1, resistance to} MIM#609423; {Mycobacterium tuberculosis, susceptibility to} MIM#607948; {Spina bifida, susceptibility to} MIM#182940
Mendeliome v0.12559 CCL2 Ain Roesley Classified gene: CCL2 as Red List (low evidence)
Mendeliome v0.12559 CCL2 Ain Roesley Gene: ccl2 has been classified as Red List (Low Evidence).
Mendeliome v0.12558 CCL2 Ain Roesley reviewed gene: CCL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {HIV-1, resistance to} MIM#609423, {Mycobacterium tuberculosis, susceptibility to} MIM#607948, {Spina bifida, susceptibility to} MIM#182940; Mode of inheritance: None; Current diagnostic: yes
Mendeliome v0.12558 ANK1 Elena Savva Phenotypes for gene: ANK1 were changed from Spherocytosis, type 1 MIM#182900 to Spherocytosis, type 1 MIM#182900
Mendeliome v0.12557 CCDC88A Ain Roesley Marked gene: CCDC88A as ready
Mendeliome v0.12557 CCDC88A Ain Roesley Gene: ccdc88a has been classified as Green List (High Evidence).
Mendeliome v0.12557 CCDC88A Ain Roesley Publications for gene: CCDC88A were set to
Mendeliome v0.12557 CCDC88A Ain Roesley Phenotypes for gene: CCDC88A were changed from to PEHO syndrome-like, MIM# 617507
Mendeliome v0.12557 CCDC88A Ain Roesley Mode of inheritance for gene: CCDC88A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12556 ANK1 Elena Savva Phenotypes for gene: ANK1 were changed from to Spherocytosis, type 1 MIM#182900
Mendeliome v0.12555 CCDC88A Ain Roesley reviewed gene: CCDC88A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26917597, 30392057; Phenotypes: PEHO syndrome-like, MIM# 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12555 ANK1 Elena Savva Marked gene: ANK1 as ready
Mendeliome v0.12555 ANK1 Elena Savva Gene: ank1 has been classified as Green List (High Evidence).
Mendeliome v0.12555 ANK1 Elena Savva Publications for gene: ANK1 were set to
Mendeliome v0.12555 ANK1 Elena Savva Mode of inheritance for gene: ANK1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12554 ANK1 Elena Savva reviewed gene: ANK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640229; Phenotypes: Spherocytosis, type 1 MIM#182900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12554 ANKH Elena Savva Marked gene: ANKH as ready
Mendeliome v0.12554 ANKH Elena Savva Gene: ankh has been classified as Green List (High Evidence).
Mendeliome v0.12554 CCDC50 Ain Roesley Marked gene: CCDC50 as ready
Mendeliome v0.12554 CCDC50 Ain Roesley Gene: ccdc50 has been classified as Green List (High Evidence).
Mendeliome v0.12554 CCDC50 Ain Roesley Phenotypes for gene: CCDC50 were changed from to Deafness, autosomal dominant 44 MIM#607453
Mendeliome v0.12554 CCDC50 Ain Roesley Publications for gene: CCDC50 were set to
Mendeliome v0.12554 CCDC50 Ain Roesley Mode of inheritance for gene: CCDC50 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12553 ANKLE2 Elena Savva Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681
Mendeliome v0.12552 CCDC50 Ain Roesley reviewed gene: CCDC50: Rating: GREEN; Mode of pathogenicity: None; Publications: 17503326, 27911912; Phenotypes: Deafness, autosomal dominant 44 MIM#607453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12552 ANKLE2 Elena Savva Phenotypes for gene: ANKLE2 were changed from Microcephaly 16, primary, autosomal recessive, MIM# 616681 to Microcephaly 16, primary, autosomal recessive, MIM# 616681
Mendeliome v0.12551 ANKLE2 Elena Savva Mode of inheritance for gene: ANKLE2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12550 ANKH Elena Savva Phenotypes for gene: ANKH were changed from to Chondrocalcinosis 2 MIM#118600; Craniometaphyseal dysplasia MIM#123000
Mendeliome v0.12550 ANKH Elena Savva Publications for gene: ANKH were set to
Mendeliome v0.12549 ANKH Elena Savva Mode of inheritance for gene: ANKH was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12548 ANKLE2 Elena Savva Phenotypes for gene: ANKLE2 were changed from to Microcephaly 16, primary, autosomal recessive, MIM# 616681
Mendeliome v0.12547 ANKLE2 Elena Savva Marked gene: ANKLE2 as ready
Mendeliome v0.12547 ANKLE2 Elena Savva Gene: ankle2 has been classified as Green List (High Evidence).
Mendeliome v0.12547 ANKLE2 Elena Savva Publications for gene: ANKLE2 were set to
Mendeliome v0.12546 ANKH Elena Savva reviewed gene: ANKH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32366894; Phenotypes: Chondrocalcinosis 2 MIM#118600, Craniometaphyseal dysplasia MIM#123000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12546 CAV3 Ain Roesley Marked gene: CAV3 as ready
Mendeliome v0.12546 CAV3 Ain Roesley Gene: cav3 has been classified as Green List (High Evidence).
Mendeliome v0.12546 CAV3 Ain Roesley Phenotypes for gene: CAV3 were changed from to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320
Mendeliome v0.12545 CAV3 Ain Roesley Publications for gene: CAV3 were set to
Mendeliome v0.12545 CAV3 Ain Roesley Mode of inheritance for gene: CAV3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12544 CAV3 Ain Roesley reviewed gene: CAV3: Rating: GREEN; Mode of pathogenicity: None; Publications: 32004987, 28807458, 27312022, 10746614; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12544 ETFDH Bryony Thompson Mode of inheritance for gene: ETFDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12543 ETFB Bryony Thompson Publications for gene: ETFB were set to
Mendeliome v0.12542 ETFDH Bryony Thompson reviewed gene: ETFDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17412732, 27038534, 19249206, 15710863, 32804429; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12542 CATSPER2 Ain Roesley Marked gene: CATSPER2 as ready
Mendeliome v0.12542 CATSPER2 Ain Roesley Gene: catsper2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12542 CATSPER2 Ain Roesley Classified gene: CATSPER2 as Amber List (moderate evidence)
Mendeliome v0.12542 CATSPER2 Ain Roesley Gene: catsper2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12541 CATSPER2 Ain Roesley Phenotypes for gene: CATSPER2 were changed from to spermatogenic failure; non-syndromic hearing loss
Mendeliome v0.12540 CATSPER2 Ain Roesley Publications for gene: CATSPER2 were set to
Mendeliome v0.12540 CATSPER2 Ain Roesley Mode of inheritance for gene: CATSPER2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12539 CATSPER2 Ain Roesley Tag SV/CNV tag was added to gene: CATSPER2.
Mendeliome v0.12539 CATSPER2 Ain Roesley reviewed gene: CATSPER2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17098888, 30629171, 12825070; Phenotypes: spermatogenic failure, non-syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12539 ANGPTL3 Elena Savva Marked gene: ANGPTL3 as ready
Mendeliome v0.12539 ANGPTL3 Elena Savva Gene: angptl3 has been classified as Green List (High Evidence).
Mendeliome v0.12539 ETFB Bryony Thompson Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12538 ANGPTL3 Elena Savva Phenotypes for gene: ANGPTL3 were changed from to Hypobetalipoproteinemia, familial, 2 MIM#605019
Mendeliome v0.12537 ANGPTL3 Elena Savva Publications for gene: ANGPTL3 were set to
Mendeliome v0.12537 ANGPTL3 Elena Savva Mode of inheritance for gene: ANGPTL3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12536 ANGPTL3 Elena Savva reviewed gene: ANGPTL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23150577, 20942659, 22155345, 22062970; Phenotypes: Hypobetalipoproteinemia, familial, 2 MIM#605019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12536 ETFB Bryony Thompson reviewed gene: ETFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 7912128, 12815589, 27081516, 12706375, 30626930; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12536 CATSPER1 Ain Roesley Marked gene: CATSPER1 as ready
Mendeliome v0.12536 CATSPER1 Ain Roesley Gene: catsper1 has been classified as Green List (High Evidence).
Mendeliome v0.12536 CATSPER1 Ain Roesley Phenotypes for gene: CATSPER1 were changed from to Spermatogenic failure 7 MIM#612997
Mendeliome v0.12535 CATSPER1 Ain Roesley Publications for gene: CATSPER1 were set to
Mendeliome v0.12535 CATSPER1 Ain Roesley Mode of inheritance for gene: CATSPER1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12534 CATSPER1 Ain Roesley changed review comment from: 2 consanguineous families; to: 2 consanguineous families

KO mice models had reduced sperm motility and fertilisation rates
Mendeliome v0.12534 ETFA Bryony Thompson Marked gene: ETFA as ready
Mendeliome v0.12534 ETFA Bryony Thompson Gene: etfa has been classified as Green List (High Evidence).
Mendeliome v0.12534 CATSPER1 Ain Roesley edited their review of gene: CATSPER1: Changed rating: GREEN; Set current diagnostic: yes
Mendeliome v0.12534 ETFA Bryony Thompson Phenotypes for gene: ETFA were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Mendeliome v0.12533 AMPD3 Elena Savva reviewed gene: AMPD3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 8004104, 11139257, 24940686; Phenotypes: [AMP deaminase deficiency, erythrocytic] MIM#612874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12533 ERLIN2 Bryony Thompson Marked gene: ERLIN2 as ready
Mendeliome v0.12533 ERLIN2 Bryony Thompson Gene: erlin2 has been classified as Green List (High Evidence).
Mendeliome v0.12533 ETFA Bryony Thompson Publications for gene: ETFA were set to
Mendeliome v0.12532 CATSPER1 Ain Roesley reviewed gene: CATSPER1: Rating: ; Mode of pathogenicity: None; Publications: 19344877, 25457194, 19210926; Phenotypes: Spermatogenic failure 7 MIM#612997; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12532 TSHB Zornitza Stark Marked gene: TSHB as ready
Mendeliome v0.12532 TSHB Zornitza Stark Gene: tshb has been classified as Green List (High Evidence).
Mendeliome v0.12532 ETFA Bryony Thompson Mode of inheritance for gene: ETFA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12532 TSHB Zornitza Stark Phenotypes for gene: TSHB were changed from to Hypothyroidism, congenital, nongoitrous 4, MIM# 275100
Mendeliome v0.12531 ERLIN2 Bryony Thompson Phenotypes for gene: ERLIN2 were changed from to hereditary spastic paraplegia 18 MONDO:0012639
Mendeliome v0.12530 TSHB Zornitza Stark Publications for gene: TSHB were set to
Mendeliome v0.12529 TSHB Zornitza Stark Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12528 TSHB Zornitza Stark reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12528 TSHR Zornitza Stark Marked gene: TSHR as ready
Mendeliome v0.12528 TSHR Zornitza Stark Gene: tshr has been classified as Green List (High Evidence).
Mendeliome v0.12528 TSHR Zornitza Stark Phenotypes for gene: TSHR were changed from to Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309; Hyperthyroidism, nonautoimmune, MIM# 609152; Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045
Mendeliome v0.12527 TSHR Zornitza Stark Publications for gene: TSHR were set to
Mendeliome v0.12526 TSHR Zornitza Stark Mode of inheritance for gene: TSHR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 TSPAN7 Zornitza Stark Tag for review tag was added to gene: TSPAN7.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: RED; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12525 ETFA Bryony Thompson reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 1430199, 1882842, 21347544; Phenotypes: multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4652 TSPAN7 Zornitza Stark Marked gene: TSPAN7 as ready
Intellectual disability syndromic and non-syndromic v0.4652 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4652 TSPAN7 Zornitza Stark Phenotypes for gene: TSPAN7 were changed from to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
Intellectual disability syndromic and non-syndromic v0.4651 TSPAN7 Zornitza Stark Publications for gene: TSPAN7 were set to
Intellectual disability syndromic and non-syndromic v0.4650 TSPAN7 Zornitza Stark Mode of inheritance for gene: TSPAN7 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12525 CAT Ain Roesley Marked gene: CAT as ready
Mendeliome v0.12525 CAT Ain Roesley Gene: cat has been classified as Green List (High Evidence).
Mendeliome v0.12525 CAT Ain Roesley Phenotypes for gene: CAT were changed from to Acatalasemia MIM#614097; hypocatalasemia
Mendeliome v0.12525 CAT Ain Roesley Publications for gene: CAT were set to
Mendeliome v0.12525 CAT Ain Roesley Mode of inheritance for gene: CAT was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4649 TSPAN7 Zornitza Stark Mode of inheritance for gene: TSPAN7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12524 CAT Ain Roesley reviewed gene: CAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 24025477; Phenotypes: Acatalasemia MIM#614097, hypocatalasemia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4648 TSPAN7 Zornitza Stark Classified gene: TSPAN7 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4648 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4647 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12524 ERLIN2 Bryony Thompson Publications for gene: ERLIN2 were set to
Mendeliome v0.12523 TSPAN7 Zornitza Stark Marked gene: TSPAN7 as ready
Mendeliome v0.12523 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12523 TSPAN7 Zornitza Stark Phenotypes for gene: TSPAN7 were changed from to Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266
Mendeliome v0.12522 TSPAN7 Zornitza Stark Publications for gene: TSPAN7 were set to
Mendeliome v0.12521 TSPAN7 Zornitza Stark Mode of inheritance for gene: TSPAN7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12520 TSPAN7 Zornitza Stark Classified gene: TSPAN7 as Amber List (moderate evidence)
Mendeliome v0.12520 TSPAN7 Zornitza Stark Gene: tspan7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12519 TSPAN7 Zornitza Stark changed review comment from: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes.; to: The P172H missense, which is reported in two families, is present at a high frequency in gnomad, including 66 hemizygotes.

Most variants in ClinVar are either VOUS or LB.
Mendeliome v0.12519 TSPAN7 Zornitza Stark reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12519 ERLIN2 Bryony Thompson Mode of inheritance for gene: ERLIN2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12518 ERLIN2 Bryony Thompson reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23109145, 21330303, 21796390, 29528531, 32094424, 34734492; Phenotypes: hereditary spastic paraplegia 18 MONDO:0012639; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12518 AMT Elena Savva Marked gene: AMT as ready
Mendeliome v0.12518 AMT Elena Savva Gene: amt has been classified as Green List (High Evidence).
Mendeliome v0.12518 EPX Bryony Thompson Marked gene: EPX as ready
Mendeliome v0.12518 EPX Bryony Thompson Gene: epx has been classified as Red List (Low Evidence).
Mendeliome v0.12518 EPX Bryony Thompson Phenotypes for gene: EPX were changed from to [Eosinophil peroxidase deficiency] MIM#261500
Mendeliome v0.12517 AMT Elena Savva Mode of inheritance for gene: AMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12517 AMT Elena Savva Phenotypes for gene: AMT were changed from to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Mendeliome v0.12517 AMT Elena Savva Publications for gene: AMT were set to
Mendeliome v0.12516 AMHR2 Elena Savva Marked gene: AMHR2 as ready
Mendeliome v0.12516 AMHR2 Elena Savva Gene: amhr2 has been classified as Green List (High Evidence).
Mendeliome v0.12516 AMHR2 Elena Savva Phenotypes for gene: AMHR2 were changed from to Persistent Mullerian duct syndrome, type II MIM#261550
Mendeliome v0.12515 AMHR2 Elena Savva Publications for gene: AMHR2 were set to
Mendeliome v0.12515 AMHR2 Elena Savva Mode of inheritance for gene: AMHR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12514 ALX4 Elena Savva Marked gene: ALX4 as ready
Mendeliome v0.12514 ALX4 Elena Savva Gene: alx4 has been classified as Green List (High Evidence).
Mendeliome v0.12514 AMHR2 Elena Savva reviewed gene: AMHR2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34810374; Phenotypes: Persistent Mullerian duct syndrome, type II MIM#261550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12514 EPX Bryony Thompson Publications for gene: EPX were set to
Mendeliome v0.12513 EPX Bryony Thompson Mode of inheritance for gene: EPX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12512 ALX4 Elena Savva Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2 MIM# 613451; Parietal foramina 2 MIM# 609597; {Craniosynostosis 5, susceptibility to} MIM#615529
Mendeliome v0.12512 ALX4 Elena Savva Publications for gene: ALX4 were set to
Mendeliome v0.12512 ALX4 Elena Savva Mode of inheritance for gene: ALX4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12511 EPX Bryony Thompson Classified gene: EPX as Red List (low evidence)
Mendeliome v0.12511 EPX Bryony Thompson Gene: epx has been classified as Red List (Low Evidence).
Mendeliome v0.12510 EPX Bryony Thompson reviewed gene: EPX: Rating: RED; Mode of pathogenicity: None; Publications: 7809065, 11241847; Phenotypes: [Eosinophil peroxidase deficiency] MIM#261500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12510 ALX4 Elena Savva reviewed gene: ALX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22829454, 34586326; Phenotypes: Frontonasal dysplasia 2 MIM# 613451, Parietal foramina 2 MIM# 609597, {Craniosynostosis 5, susceptibility to} MIM#615529; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12510 ALMS1 Elena Savva Publications for gene: ALMS1 were set to PMID: 17594715
Mendeliome v0.12509 ALMS1 Elena Savva Publications for gene: ALMS1 were set to
Mendeliome v0.12508 ALMS1 Elena Savva Marked gene: ALMS1 as ready
Mendeliome v0.12508 ALMS1 Elena Savva Gene: alms1 has been classified as Green List (High Evidence).
Mendeliome v0.12508 ALDH6A1 Elena Savva Marked gene: ALDH6A1 as ready
Mendeliome v0.12508 ALDH6A1 Elena Savva Gene: aldh6a1 has been classified as Green List (High Evidence).
Mendeliome v0.12508 ALDH18A1 Elena Savva Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
Mendeliome v0.12507 ALDH6A1 Elena Savva Phenotypes for gene: ALDH6A1 were changed from to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism
Mendeliome v0.12506 ALDH6A1 Elena Savva Publications for gene: ALDH6A1 were set to
Mendeliome v0.12506 ALDH6A1 Elena Savva Mode of inheritance for gene: ALDH6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12505 ALDH18A1 Elena Savva Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal recessive, type IIIA MIM#219150; Spastic paraplegia 9A, autosomal dominant MIM#601162; Spastic paraplegia 9B, autosomal recessive MIM#616586; Cutis laxa, autosomal dominant 3 MIM#616603; disorders of ornithine or proline metabolism
Mendeliome v0.12504 ALDH18A1 Elena Savva Marked gene: ALDH18A1 as ready
Mendeliome v0.12504 ALDH18A1 Elena Savva Gene: aldh18a1 has been classified as Green List (High Evidence).
Mendeliome v0.12504 ALDH18A1 Elena Savva Publications for gene: ALDH18A1 were set to
Mendeliome v0.12504 ALDH18A1 Elena Savva Mode of inheritance for gene: ALDH18A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12503 SERPINC1 Samantha Ayres reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31359133, 30356112, 23910795, 28317092, 29747524, 11018075, 14590998; Phenotypes: hereditary antithrombin deficiency MONDO:0013144, Thrombophilia 7 due to antithrombin III deficiency, MIM#613118; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12503 CASR Ain Roesley Marked gene: CASR as ready
Mendeliome v0.12503 CASR Ain Roesley Gene: casr has been classified as Green List (High Evidence).
Mendeliome v0.12503 CASR Ain Roesley Phenotypes for gene: CASR were changed from to Hyperparathyroidism, neonatal MIM#239200; Hypocalcemia, autosomal dominant MIM#601198; Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198; hypercalcemia, type I MIM#145980
Mendeliome v0.12502 CASR Ain Roesley Publications for gene: CASR were set to
Mendeliome v0.12502 CASR Ain Roesley Mode of inheritance for gene: CASR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12501 CASR Ain Roesley reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7916660, 7726161, 8675635, 17698911, 22620673, 26646938, 22422767; Phenotypes: Hyperparathyroidism, neonatal MIM#239200, Hypocalcemia, autosomal dominant MIM#601198, Hypocalcemia autosomal dominant, with Bartter syndrome MIM#601198, hypercalcemia, type I MIM#145980; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12501 CASQ1 Ain Roesley Publications for gene: CASQ1 were set to
Mendeliome v0.12500 CASQ1 Ain Roesley Marked gene: CASQ1 as ready
Mendeliome v0.12500 CASQ1 Ain Roesley Gene: casq1 has been classified as Green List (High Evidence).
Mendeliome v0.12500 CASQ1 Ain Roesley Phenotypes for gene: CASQ1 were changed from to Myopathy, vacuolar, with CASQ1 aggregates MIM#616231
Mendeliome v0.12499 CASQ1 Ain Roesley Mode of inheritance for gene: CASQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12498 CASQ1 Ain Roesley Tag founder tag was added to gene: CASQ1.
Mendeliome v0.12498 CASQ1 Ain Roesley reviewed gene: CASQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26136523, 30258016; Phenotypes: Myopathy, vacuolar, with CASQ1 aggregates MIM#616231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12498 SERPINB8 Samantha Ayres reviewed gene: SERPINB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476651; Phenotypes: Peeling skin syndrome 5 MIM#617115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12498 SERPINB6 Samantha Ayres changed review comment from: Multiple affected families and animal model.; to: Multiple affected families and animal model.
Note: listed as a red gene on paed additional findings gene list. No review provided however.
Mendeliome v0.12498 SERPINB6 Samantha Ayres reviewed gene: SERPINB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20451170, 25719458, 23669344; Phenotypes: Deafness, autosomal recessive 91, MIM# 613453; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12498 TMEM98 Zornitza Stark Marked gene: TMEM98 as ready
Mendeliome v0.12498 TMEM98 Zornitza Stark Gene: tmem98 has been classified as Green List (High Evidence).
Mendeliome v0.12498 TMEM98 Zornitza Stark Phenotypes for gene: TMEM98 were changed from to Nanophthalmos 4 MIM#615972
Mendeliome v0.12497 TMEM98 Zornitza Stark Publications for gene: TMEM98 were set to
Mendeliome v0.12496 TMEM98 Zornitza Stark Mode of inheritance for gene: TMEM98 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12495 TMEM98 Zornitza Stark reviewed gene: TMEM98: Rating: GREEN; Mode of pathogenicity: None; Publications: 24852644, 26392740; Phenotypes: Nanophthalmos 4 MIM#615972; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12495 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Mendeliome v0.12495 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Mendeliome v0.12495 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Mendeliome v0.12494 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Mendeliome v0.12493 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12492 TMEM70 Zornitza Stark reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12492 TMEM38B Zornitza Stark Marked gene: TMEM38B as ready
Mendeliome v0.12492 TMEM38B Zornitza Stark Gene: tmem38b has been classified as Green List (High Evidence).
Mendeliome v0.12492 TMEM38B Zornitza Stark Phenotypes for gene: TMEM38B were changed from to Osteogenesis imperfecta, type XIV, MIM# 615066
Mendeliome v0.12491 TMEM38B Zornitza Stark Publications for gene: TMEM38B were set to
Mendeliome v0.12490 TMEM38B Zornitza Stark Mode of inheritance for gene: TMEM38B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12489 TMEM38B Zornitza Stark reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: None; Publications: 23054245; Phenotypes: Osteogenesis imperfecta, type XIV, MIM# 615066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12489 TMEM199 Zornitza Stark Marked gene: TMEM199 as ready
Mendeliome v0.12489 TMEM199 Zornitza Stark Gene: tmem199 has been classified as Green List (High Evidence).
Mendeliome v0.12489 TMEM199 Zornitza Stark Phenotypes for gene: TMEM199 were changed from to Congenital disorder of glycosylation, type IIp MIM# 616829
Mendeliome v0.12488 TMEM199 Zornitza Stark Publications for gene: TMEM199 were set to
Mendeliome v0.12487 TMEM199 Zornitza Stark Mode of inheritance for gene: TMEM199 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12486 TMEM199 Zornitza Stark reviewed gene: TMEM199: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833330, 29321044; Phenotypes: Congenital disorder of glycosylation, type IIp MIM# 616829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12486 TMEM173 Zornitza Stark Marked gene: TMEM173 as ready
Mendeliome v0.12486 TMEM173 Zornitza Stark Gene: tmem173 has been classified as Green List (High Evidence).
Mendeliome v0.12486 TMEM173 Zornitza Stark Phenotypes for gene: TMEM173 were changed from to STING-associated vasculopathy, infantile-onset, MIM# 615934
Mendeliome v0.12485 TMEM173 Zornitza Stark Publications for gene: TMEM173 were set to
Mendeliome v0.12484 TMEM173 Zornitza Stark Mode of inheritance for gene: TMEM173 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12483 TMEM173 Zornitza Stark reviewed gene: TMEM173: Rating: GREEN; Mode of pathogenicity: None; Publications: 25401470, 25029335; Phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12483 TMC6 Zornitza Stark Marked gene: TMC6 as ready
Mendeliome v0.12483 TMC6 Zornitza Stark Gene: tmc6 has been classified as Green List (High Evidence).
Mendeliome v0.12483 TMC6 Zornitza Stark Phenotypes for gene: TMC6 were changed from to Epidermodysplasia verruciformis, MIM# 226400
Mendeliome v0.12482 TMC6 Zornitza Stark Publications for gene: TMC6 were set to
Mendeliome v0.12481 TMC6 Zornitza Stark Mode of inheritance for gene: TMC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12480 TMC6 Zornitza Stark reviewed gene: TMC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 15042430]; Phenotypes: Epidermodysplasia verruciformis, MIM# 226400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12480 TLR5 Zornitza Stark Marked gene: TLR5 as ready
Mendeliome v0.12480 TLR5 Zornitza Stark Gene: tlr5 has been classified as Red List (Low Evidence).
Mendeliome v0.12480 TLR5 Zornitza Stark Classified gene: TLR5 as Red List (low evidence)
Mendeliome v0.12480 TLR5 Zornitza Stark Gene: tlr5 has been classified as Red List (Low Evidence).
Mendeliome v0.12479 TLR5 Zornitza Stark reviewed gene: TLR5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12479 TLR3 Zornitza Stark Marked gene: TLR3 as ready
Mendeliome v0.12479 TLR3 Zornitza Stark Gene: tlr3 has been classified as Green List (High Evidence).
Mendeliome v0.12479 TLR3 Zornitza Stark Phenotypes for gene: TLR3 were changed from to Immunodeficiency 83, susceptibility to viral infections, MIM# 613002
Mendeliome v0.12478 TLR3 Zornitza Stark Publications for gene: TLR3 were set to
Mendeliome v0.12477 TLR3 Zornitza Stark Mode of inheritance for gene: TLR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12476 TLR3 Zornitza Stark reviewed gene: TLR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17872438, 21911422, 25339207, 26513235, 28368532, 31217193, 32936395; Phenotypes: Immunodeficiency 83, susceptibility to viral infections, MIM# 613002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12476 TLR2 Zornitza Stark Marked gene: TLR2 as ready
Mendeliome v0.12476 TLR2 Zornitza Stark Gene: tlr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12476 TLR2 Zornitza Stark Classified gene: TLR2 as Red List (low evidence)
Mendeliome v0.12476 TLR2 Zornitza Stark Gene: tlr2 has been classified as Red List (Low Evidence).
Mendeliome v0.12475 TLR2 Zornitza Stark reviewed gene: TLR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12475 FTCD Zornitza Stark Marked gene: FTCD as ready
Mendeliome v0.12475 FTCD Zornitza Stark Gene: ftcd has been classified as Green List (High Evidence).
Mendeliome v0.12475 FTCD Zornitza Stark Phenotypes for gene: FTCD were changed from Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
Mendeliome v0.12474 FTCD Zornitza Stark Publications for gene: FTCD were set to 27604308; 12815595
Mendeliome v0.12473 FTCD Zornitza Stark Mode of inheritance for gene: FTCD was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12472 FTCD Zornitza Stark Marked gene: FTCD as ready
Mendeliome v0.12472 FTCD Zornitza Stark Gene: ftcd has been classified as Green List (High Evidence).
Mendeliome v0.12472 FTCD Zornitza Stark Phenotypes for gene: FTCD were changed from to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
Mendeliome v0.12471 FTCD Zornitza Stark Publications for gene: FTCD were set to
Mendeliome v0.12470 FTCD Zornitza Stark Mode of inheritance for gene: FTCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12469 FGF14 Zornitza Stark Marked gene: FGF14 as ready
Mendeliome v0.12469 FGF14 Zornitza Stark Gene: fgf14 has been classified as Green List (High Evidence).
Mendeliome v0.12469 FGF14 Zornitza Stark Phenotypes for gene: FGF14 were changed from to Spinocerebellar ataxia 27 MIM#609307
Mendeliome v0.12468 FGF14 Zornitza Stark Mode of inheritance for gene: FGF14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12467 FAT4 Zornitza Stark Marked gene: FAT4 as ready
Mendeliome v0.12467 FAT4 Zornitza Stark Gene: fat4 has been classified as Green List (High Evidence).
Mendeliome v0.12467 FAT4 Zornitza Stark Phenotypes for gene: FAT4 were changed from to Hennekam lymphangiectasia-lymphedema syndrome 2 MIM#616006; Van Maldergem syndrome 2 MIM#615546
Mendeliome v0.12466 FAT4 Zornitza Stark Publications for gene: FAT4 were set to
Mendeliome v0.12465 FAT4 Zornitza Stark Mode of inheritance for gene: FAT4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12464 ERLIN1 Zornitza Stark Marked gene: ERLIN1 as ready
Mendeliome v0.12464 ERLIN1 Zornitza Stark Gene: erlin1 has been classified as Green List (High Evidence).
Mendeliome v0.12464 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Mendeliome v0.12464 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Mendeliome v0.12464 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150; De Sanctis-Cacchione syndrome, MIM#278800
Mendeliome v0.12463 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to 20301516 20456449 9443879 8566949
Mendeliome v0.12462 ERCC6 Zornitza Stark Publications for gene: ERCC6 were set to
Mendeliome v0.12461 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12460 SLC30A2 Zornitza Stark Marked gene: SLC30A2 as ready
Mendeliome v0.12460 SLC30A2 Zornitza Stark Gene: slc30a2 has been classified as Green List (High Evidence).
Mendeliome v0.12460 SLC30A2 Zornitza Stark Phenotypes for gene: SLC30A2 were changed from to Zinc deficiency, transient neonatal , MIM#608118
Mendeliome v0.12459 SLC30A2 Zornitza Stark Publications for gene: SLC30A2 were set to
Mendeliome v0.12458 SLC30A2 Zornitza Stark Mode of inheritance for gene: SLC30A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12457 SLC30A2 Zornitza Stark reviewed gene: SLC30A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17065149, 22733820, 32278324, 30450693, 28665435; Phenotypes: Zinc deficiency, transient neonatal , MIM#608118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12457 SLC2A9 Zornitza Stark Marked gene: SLC2A9 as ready
Mendeliome v0.12457 SLC2A9 Zornitza Stark Gene: slc2a9 has been classified as Green List (High Evidence).
Mendeliome v0.12457 SLC2A9 Zornitza Stark Phenotypes for gene: SLC2A9 were changed from to Hypouricaemia, renal, 2, MIM# 612076
Mendeliome v0.12456 SLC2A9 Zornitza Stark Publications for gene: SLC2A9 were set to
Mendeliome v0.12455 SLC2A9 Zornitza Stark Mode of inheritance for gene: SLC2A9 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12454 SLC2A9 Zornitza Stark reviewed gene: SLC2A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19026395, 19926891, 21810765, 25966807, 21256783; Phenotypes: Hypouricaemia, renal, 2, MIM# 612076; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.124 RIPOR2 Zornitza Stark Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
Deafness_IsolatedAndComplex v1.123 RIPOR2 Zornitza Stark edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017
Mendeliome v0.12454 RIPOR2 Zornitza Stark Phenotypes for gene: RIPOR2 were changed from Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant to Deafness, autosomal recessive 104, MIM# 616515; Deafness, autosomal dominant 21, MIM# 607017
Mendeliome v0.12453 RIPOR2 Zornitza Stark edited their review of gene: RIPOR2: Changed phenotypes: Deafness, autosomal recessive 104, MIM# 616515, Deafness, autosomal dominant 21, MIM# 607017
Mendeliome v0.12453 PNPT1 Arina Puzriakova reviewed gene: PNPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33199448; Phenotypes: Combined oxidative phosphorylation deficiency 13, OMIM:614932; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12453 EPOR Bryony Thompson Phenotypes for gene: EPOR were changed from to primary familial polycythemia due to EPO receptor mutation MONDO:0007572
Mendeliome v0.12452 EPOR Bryony Thompson Publications for gene: EPOR were set to
Mendeliome v0.12451 EPS8 Bryony Thompson reviewed gene: EPS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24741995, 27344577, 30303587, 34637946, 21526224; Phenotypes: Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12451 EPOR Bryony Thompson Mode of pathogenicity for gene: EPOR was changed from to Other
Mendeliome v0.12450 EPOR Bryony Thompson Mode of inheritance for gene: EPOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12449 EPOR Bryony Thompson reviewed gene: EPOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8506290, 11559951, 17488692, 18492694, 30507031; Phenotypes: primary familial polycythemia due to EPO receptor mutation MONDO:0007572; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12449 SLC30A8 Zornitza Stark Marked gene: SLC30A8 as ready
Mendeliome v0.12449 SLC30A8 Zornitza Stark Gene: slc30a8 has been classified as Red List (Low Evidence).
Mendeliome v0.12449 SLC30A8 Zornitza Stark Phenotypes for gene: SLC30A8 were changed from to {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853
Mendeliome v0.12448 SLC30A8 Zornitza Stark Publications for gene: SLC30A8 were set to
Mendeliome v0.12447 SLC30A8 Zornitza Stark Mode of inheritance for gene: SLC30A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12446 SLC30A8 Zornitza Stark Classified gene: SLC30A8 as Red List (low evidence)
Mendeliome v0.12446 SLC30A8 Zornitza Stark Gene: slc30a8 has been classified as Red List (Low Evidence).
Mendeliome v0.12445 SLC30A8 Zornitza Stark reviewed gene: SLC30A8: Rating: RED; Mode of pathogenicity: None; Publications: 17293876; Phenotypes: {Diabetes mellitus, noninsulin-dependent, susceptibility to}, MIM# 125853; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12445 SLC34A1 Zornitza Stark changed review comment from: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported.

Nephrolithiasis and mono-allelic variants: multiple families reported.; to: Infantile hypercalcaemia and bi-allelic variants: More than 5 unrelated families reported.

Nephrolithiasis and mono-allelic variants: multiple families reported.

Single family reported with renal Fanconi and homozygous variant.
Mendeliome v0.12445 SLC34A1 Zornitza Stark Marked gene: SLC34A1 as ready
Mendeliome v0.12445 SLC34A1 Zornitza Stark Gene: slc34a1 has been classified as Green List (High Evidence).
Mendeliome v0.12445 SLC34A1 Zornitza Stark Phenotypes for gene: SLC34A1 were changed from to Hypercalcaemia, infantile, 2 MIM#616963; Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286
Mendeliome v0.12444 SLC34A1 Zornitza Stark Publications for gene: SLC34A1 were set to
Mendeliome v0.12443 SLC34A1 Zornitza Stark Mode of inheritance for gene: SLC34A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12442 SLC34A1 Zornitza Stark reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26047794, 33516786, 33099630, 32866123, 31188746, 30943683, 12324554, 32216560, 30778725; Phenotypes: Hypercalcaemia, infantile, 2 MIM#616963, Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12442 SLC34A2 Zornitza Stark Marked gene: SLC34A2 as ready
Mendeliome v0.12442 SLC34A2 Zornitza Stark Gene: slc34a2 has been classified as Green List (High Evidence).
Mendeliome v0.12442 SLC34A2 Zornitza Stark Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100
Mendeliome v0.12441 SLC34A2 Zornitza Stark Publications for gene: SLC34A2 were set to
Mendeliome v0.12440 SLC34A2 Zornitza Stark Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12439 SLC34A2 Zornitza Stark reviewed gene: SLC34A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960801, 34581165, 33884208, 32328294, 31941744; Phenotypes: Pulmonary alveolar microlithiasis, MIM# 265100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12439 SLC35A1 Zornitza Stark Marked gene: SLC35A1 as ready
Mendeliome v0.12439 SLC35A1 Zornitza Stark Gene: slc35a1 has been classified as Green List (High Evidence).
Mendeliome v0.12439 EPO Bryony Thompson Marked gene: EPO as ready
Mendeliome v0.12439 EPO Bryony Thompson Gene: epo has been classified as Green List (High Evidence).
Mendeliome v0.12439 SLC35A1 Zornitza Stark Phenotypes for gene: SLC35A1 were changed from to Congenital disorder of glycosylation, type IIf, MIM# 603585
Mendeliome v0.12438 SLC35A1 Zornitza Stark Publications for gene: SLC35A1 were set to
Mendeliome v0.12437 SLC35A1 Zornitza Stark Mode of inheritance for gene: SLC35A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12436 SLC35A1 Zornitza Stark reviewed gene: SLC35A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28856833, 23873973, 11157507; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM# 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12436 EPO Bryony Thompson Phenotypes for gene: EPO were changed from to erythrocytosis, familial, 5 MONDO:0033483
Mendeliome v0.12435 SLC39A13 Zornitza Stark Marked gene: SLC39A13 as ready
Mendeliome v0.12435 SLC39A13 Zornitza Stark Gene: slc39a13 has been classified as Green List (High Evidence).
Mendeliome v0.12435 SLC39A13 Zornitza Stark Phenotypes for gene: SLC39A13 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350
Mendeliome v0.12434 SLC39A13 Zornitza Stark Publications for gene: SLC39A13 were set to
Mendeliome v0.12433 SLC39A13 Zornitza Stark Mode of inheritance for gene: SLC39A13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12432 SLC39A13 Zornitza Stark reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3, MIM# 612350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12432 SLC39A5 Zornitza Stark Marked gene: SLC39A5 as ready
Mendeliome v0.12432 SLC39A5 Zornitza Stark Gene: slc39a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12432 SLC39A5 Zornitza Stark Phenotypes for gene: SLC39A5 were changed from to Myopia 24, autosomal dominant, MIM# 615946
Mendeliome v0.12431 SLC39A5 Zornitza Stark Publications for gene: SLC39A5 were set to
Mendeliome v0.12430 EPO Bryony Thompson changed review comment from: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) and expected to have a similar mechanism.

PMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor; to: PMID: 27651169, 29514032, 25985138 - At least 4 families reported with heterozygous variants segregating with erythrocytosis. Mechanism of disease is gain-of-function. Frameshift variants identified (c.32delG, c.19delC) use of an alternative promoter (P2) in intron 1 causing the production of functional transcripts and increased amounts of biologically active EPO compared to controls, and 5’UTR conserved variant (c.‐136G>A) expected to have a similar mechanism.

PMID: 28283061 - single proband from a consanguineous family with severe anaemia (Diamond-Blackfan anaemia phenotype) reported with a homozygous missense (R150Q) showing a mild reduction in its affinity for the EPO receptor
Mendeliome v0.12430 SLC39A5 Zornitza Stark Mode of inheritance for gene: SLC39A5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12429 SLC39A5 Zornitza Stark Classified gene: SLC39A5 as Amber List (moderate evidence)
Mendeliome v0.12429 SLC39A5 Zornitza Stark Gene: slc39a5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12428 SLC39A5 Zornitza Stark reviewed gene: SLC39A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 35002215, 34302427, 31560770, 24891338; Phenotypes: Myopia 24, autosomal dominant, MIM# 615946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12428 EPO Bryony Thompson Publications for gene: EPO were set to
Mendeliome v0.12427 EPO Bryony Thompson Mode of pathogenicity for gene: EPO was changed from to Other
Mendeliome v0.12426 EPM2A Bryony Thompson Marked gene: EPM2A as ready
Mendeliome v0.12426 EPM2A Bryony Thompson Gene: epm2a has been classified as Green List (High Evidence).
Mendeliome v0.12426 EPO Bryony Thompson Mode of inheritance for gene: EPO was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12425 EPO Bryony Thompson reviewed gene: EPO: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27651169, 29514032, 25985138, 28283061; Phenotypes: erythrocytosis, familial, 5 MONDO:0033483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12425 EPM2A Bryony Thompson Phenotypes for gene: EPM2A were changed from to Lafora disease MONDO:0009697
Mendeliome v0.12424 EPM2A Bryony Thompson Publications for gene: EPM2A were set to
Mendeliome v0.12423 EPM2A Bryony Thompson Mode of inheritance for gene: EPM2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12422 EPM2A Bryony Thompson reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 9771710, 9931343, 11175283, 12019207, 12560877, 14722920; Phenotypes: Lafora disease MONDO:0009697; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12422 TSHB Manny Jacobs reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 1971148, 12364478, 2792087, 34780050, 31166470, 35102753, 29546359; Phenotypes: Hypothyroidism, congenital, nongoitrous 4, MIM# 275100; Mode of inheritance: None
Mendeliome v0.12422 EPHA3 Bryony Thompson Marked gene: EPHA3 as ready
Mendeliome v0.12422 EPHA3 Bryony Thompson Gene: epha3 has been classified as Red List (Low Evidence).
Mendeliome v0.12422 EPHA3 Bryony Thompson Classified gene: EPHA3 as Red List (low evidence)
Mendeliome v0.12422 EPHA3 Bryony Thompson Gene: epha3 has been classified as Red List (Low Evidence).
Mendeliome v0.12421 EPHA2 Bryony Thompson Marked gene: EPHA2 as ready
Mendeliome v0.12421 EPHA2 Bryony Thompson Gene: epha2 has been classified as Green List (High Evidence).
Mendeliome v0.12421 EPHA3 Bryony Thompson reviewed gene: EPHA3: Rating: RED; Mode of pathogenicity: None; Publications: 29932736, 21996756; Phenotypes: ; Mode of inheritance: Unknown
Mendeliome v0.12421 EPHA2 Bryony Thompson Phenotypes for gene: EPHA2 were changed from to cataract 6 multiple types MONDO:0007288
Mendeliome v0.12420 SLC39A8 Zornitza Stark reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 26637978, 26637979; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12420 SLC40A1 Zornitza Stark Marked gene: SLC40A1 as ready
Mendeliome v0.12420 SLC40A1 Zornitza Stark Gene: slc40a1 has been classified as Green List (High Evidence).
Mendeliome v0.12420 SLC40A1 Zornitza Stark Phenotypes for gene: SLC40A1 were changed from to Haemochromatosis, type 4, MIM# 606069
Mendeliome v0.12419 SLC40A1 Zornitza Stark Publications for gene: SLC40A1 were set to
Mendeliome v0.12418 SLC40A1 Zornitza Stark Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12417 SLC40A1 Zornitza Stark reviewed gene: SLC40A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431687, 11518736, 15956209, 16351644; Phenotypes: Haemochromatosis, type 4 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12417 EPHA2 Bryony Thompson Publications for gene: EPHA2 were set to
Mendeliome v0.12416 EPHA2 Bryony Thompson Mode of inheritance for gene: EPHA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12415 EPHA2 Bryony Thompson reviewed gene: EPHA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19005574, 19649315, 19306328, 33671840; Phenotypes: cataract 6 multiple types MONDO:0007288; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12415 SLC4A11 Zornitza Stark Marked gene: SLC4A11 as ready
Mendeliome v0.12415 SLC4A11 Zornitza Stark Gene: slc4a11 has been classified as Green List (High Evidence).
Mendeliome v0.12415 SLC4A11 Zornitza Stark Phenotypes for gene: SLC4A11 were changed from to Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268; Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Corneal endothelial dystrophy, autosomal recessive, MIM# 217700
Mendeliome v0.12414 SLC4A11 Zornitza Stark Mode of inheritance for gene: SLC4A11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12413 SLC4A11 Zornitza Stark reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal dystrophy, Fuchs endothelial, 4, MIM# 613268, Corneal endothelial dystrophy and perceptive deafness, MIM# 217400, Corneal endothelial dystrophy, autosomal recessive, MIM# 217700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12413 SLC4A4 Zornitza Stark Marked gene: SLC4A4 as ready
Mendeliome v0.12413 SLC4A4 Zornitza Stark Gene: slc4a4 has been classified as Green List (High Evidence).
Mendeliome v0.12413 SLC4A4 Zornitza Stark Phenotypes for gene: SLC4A4 were changed from to Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278; Hemiplegic migraine
Mendeliome v0.12412 SLC4A4 Zornitza Stark Publications for gene: SLC4A4 were set to
Mendeliome v0.12411 SLC4A4 Zornitza Stark Mode of inheritance for gene: SLC4A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12410 SLC4A4 Zornitza Stark reviewed gene: SLC4A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545938, 11274232, 35260236, 33439394, 29914390; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278, Hemiplegic migraine; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12410 ENO3 Bryony Thompson Marked gene: ENO3 as ready
Mendeliome v0.12410 ENO3 Bryony Thompson Gene: eno3 has been classified as Green List (High Evidence).
Mendeliome v0.12410 ENO3 Bryony Thompson Phenotypes for gene: ENO3 were changed from to glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046
Mendeliome v0.12409 ENO3 Bryony Thompson Publications for gene: ENO3 were set to
Mendeliome v0.12408 TSHR Manny Jacobs reviewed gene: TSHR: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7920658, 7800007, 8964822, 9329388, 9185526, 9100579; Phenotypes: Hyperthyroidism, familial gestational, MIM # 603373, MONDO:0011309, Hyperthyroidism, nonautoimmune, MIM# 609152, Hypothyroidism, congenital, nongoitrous, 1, MIM# 275200, MONDO:0000045; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12408 ENO3 Bryony Thompson Mode of inheritance for gene: ENO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12407 ENG Bryony Thompson Marked gene: ENG as ready
Mendeliome v0.12407 ENG Bryony Thompson Gene: eng has been classified as Green List (High Evidence).
Mendeliome v0.12407 ENO3 Bryony Thompson reviewed gene: ENO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11506403, 31741825, 25267339, 18070103; Phenotypes: glycogen storage disease due to muscle beta-enolase deficiency MONDO:0013046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12407 ENG Bryony Thompson Phenotypes for gene: ENG were changed from to hereditary hemorrhagic telangiectasia MONDO:0019180
Mendeliome v0.12406 ENG Bryony Thompson Publications for gene: ENG were set to
Mendeliome v0.12405 ENG Bryony Thompson Mode of inheritance for gene: ENG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.181 EMP2 Bryony Thompson Marked gene: EMP2 as ready
Proteinuria v0.181 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.181 EMP2 Bryony Thompson Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373
Mendeliome v0.12404 ENG Bryony Thompson reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: None; Publications: 34012068, 30336550, 7894484, 10751092, 20414677, 30763665, 17384219, 20364125; Phenotypes: hereditary hemorrhagic telangiectasia MONDO:0019180; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Proteinuria v0.180 EMP2 Bryony Thompson Publications for gene: EMP2 were set to
Proteinuria v0.179 EMP2 Bryony Thompson Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.178 EMP2 Bryony Thompson Classified gene: EMP2 as Amber List (moderate evidence)
Proteinuria v0.178 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Proteinuria v0.177 EMP2 Bryony Thompson reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12404 EMP2 Bryony Thompson Marked gene: EMP2 as ready
Mendeliome v0.12404 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12404 EMP2 Bryony Thompson Phenotypes for gene: EMP2 were changed from to nephrotic syndrome, type 10 MONDO:0014373
Mendeliome v0.12403 EMP2 Bryony Thompson Publications for gene: EMP2 were set to
Mendeliome v0.12402 TSPAN7 Manny Jacobs reviewed gene: TSPAN7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 10449641, 12070254, 10655063, 25081361; Phenotypes: Intellectual developmental disorder, X-linked 58, MIM #300210, MONDO:0010266; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12402 EMP2 Bryony Thompson Mode of inheritance for gene: EMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12401 EMP2 Bryony Thompson Classified gene: EMP2 as Amber List (moderate evidence)
Mendeliome v0.12401 EMP2 Bryony Thompson Gene: emp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12400 EMP2 Bryony Thompson reviewed gene: EMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24814193, 31508419; Phenotypes: nephrotic syndrome, type 10 MONDO:0014373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12400 ELP2 Bryony Thompson Marked gene: ELP2 as ready
Mendeliome v0.12400 ELP2 Bryony Thompson Gene: elp2 has been classified as Green List (High Evidence).
Mendeliome v0.12400 ELP2 Bryony Thompson Phenotypes for gene: ELP2 were changed from to intellectual disability, autosomal recessive 58 MONDO:0014996
Mendeliome v0.12399 ELP2 Bryony Thompson Publications for gene: ELP2 were set to
Mendeliome v0.12398 ELP2 Bryony Thompson Mode of inheritance for gene: ELP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12397 ELP2 Bryony Thompson reviewed gene: ELP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21937992, 25847581, 32573669, 34653680; Phenotypes: intellectual disability, autosomal recessive 58 MONDO:0014996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12397 ELOVL4 Bryony Thompson Marked gene: ELOVL4 as ready
Mendeliome v0.12397 ELOVL4 Bryony Thompson Gene: elovl4 has been classified as Green List (High Evidence).
Mendeliome v0.12397 ELOVL5 Bryony Thompson Marked gene: ELOVL5 as ready
Mendeliome v0.12397 ELOVL5 Bryony Thompson Gene: elovl5 has been classified as Green List (High Evidence).
Mendeliome v0.12397 ELOVL5 Bryony Thompson Phenotypes for gene: ELOVL5 were changed from to spinocerebellar ataxia type 38 MONDO:0014417
Mendeliome v0.12396 ELOVL4 Bryony Thompson Phenotypes for gene: ELOVL4 were changed from to congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760; spinocerebellar ataxia type 34 MONDO:0007574; Stargardt disease MONDO:0019353
Mendeliome v0.12395 ELOVL5 Bryony Thompson Publications for gene: ELOVL5 were set to
Mendeliome v0.12394 ELOVL4 Bryony Thompson Publications for gene: ELOVL4 were set to 11138005; 15028284; 11726641; 17208947; 22100072; 24566826; 34227061; 24571530; 26010696
Mendeliome v0.12393 ELOVL4 Bryony Thompson Publications for gene: ELOVL4 were set to
Mendeliome v0.12392 ELOVL5 Bryony Thompson Mode of inheritance for gene: ELOVL5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12391 ELOVL4 Bryony Thompson Mode of inheritance for gene: ELOVL4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12390 ELOVL4 Bryony Thompson reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11138005, 15028284, 11726641, 17208947, 22100072, 24566826, 34227061, 24571530, 26010696; Phenotypes: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760, spinocerebellar ataxia type 34 MONDO:0007574, Stargardt disease MONDO:0019353; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12390 ELN Bryony Thompson Marked gene: ELN as ready
Mendeliome v0.12390 ELN Bryony Thompson Gene: eln has been classified as Green List (High Evidence).
Mendeliome v0.12390 ELN Bryony Thompson Phenotypes for gene: ELN were changed from to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504
Mendeliome v0.12389 ELN Bryony Thompson Publications for gene: ELN were set to
Mendeliome v0.12388 ELN Bryony Thompson Mode of inheritance for gene: ELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12387 ELN Bryony Thompson reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 8132745, 9580666, 9873040, 10190324, 10190538, 22573328, 28383366; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.12387 ARPC4 Bryony Thompson Publications for gene: ARPC4 were set to DOI:https://doi.org/10.1016/j.xhgg.2021.100072
Mendeliome v0.12386 ARPC4 Bryony Thompson edited their review of gene: ARPC4: Changed publications: 35047857; Set current diagnostic: yes
Mendeliome v0.12386 SLC52A2 Zornitza Stark Marked gene: SLC52A2 as ready
Mendeliome v0.12386 SLC52A2 Zornitza Stark Gene: slc52a2 has been classified as Green List (High Evidence).
Mendeliome v0.12386 SLC52A2 Zornitza Stark Phenotypes for gene: SLC52A2 were changed from to Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Mendeliome v0.12385 SLC52A2 Zornitza Stark Mode of inheritance for gene: SLC52A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12384 SLC52A2 Zornitza Stark changed review comment from: Generally presents with a range of neuropathies but ataxia described.; to: Well established gene-disease association.
Mendeliome v0.12384 SLC52A3 Zornitza Stark Marked gene: SLC52A3 as ready
Mendeliome v0.12384 SLC52A3 Zornitza Stark Gene: slc52a3 has been classified as Green List (High Evidence).
Mendeliome v0.12384 SLC52A3 Zornitza Stark Phenotypes for gene: SLC52A3 were changed from to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530
Mendeliome v0.12383 SLC52A3 Zornitza Stark Mode of inheritance for gene: SLC52A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12382 SLC52A3 Zornitza Stark reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12382 DVL2 Bryony Thompson Marked gene: DVL2 as ready
Mendeliome v0.12382 DVL2 Bryony Thompson Gene: dvl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12382 DVL2 Bryony Thompson Classified gene: DVL2 as Amber List (moderate evidence)
Mendeliome v0.12382 DVL2 Bryony Thompson Gene: dvl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12381 SLC5A2 Zornitza Stark Marked gene: SLC5A2 as ready
Mendeliome v0.12381 SLC5A2 Zornitza Stark Gene: slc5a2 has been classified as Green List (High Evidence).
Mendeliome v0.12381 SLC5A2 Zornitza Stark Phenotypes for gene: SLC5A2 were changed from to Renal glucosuria, MIM# 233100
Mendeliome v0.12381 DVL2 Bryony Thompson gene: DVL2 was added
gene: DVL2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL2 were set to 35047859; 33599851; 30521570
Phenotypes for gene: DVL2 were set to Robinow syndrome MONDO:0019978
Review for gene: DVL2 was set to AMBER
Added comment: A single case with Robinow syndrome identified with a de novo frameshift variant in the last exon of the gene (c.2105dupC, p.Pro703Serfs*103). Also, a canine DVL2 frameshift variant has been associated with a Robinow-like syndrome in dogs, contributing to the brachycephalic phenotype and caudal vertebral anomalies.
Sources: Literature
Mendeliome v0.12380 SLC5A2 Zornitza Stark Mode of inheritance for gene: SLC5A2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12379 SLC5A2 Zornitza Stark reviewed gene: SLC5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal glucosuria, MIM# 233100; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12379 SLC6A17 Zornitza Stark Marked gene: SLC6A17 as ready
Mendeliome v0.12379 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4647 SLC6A17 Zornitza Stark Marked gene: SLC6A17 as ready
Intellectual disability syndromic and non-syndromic v0.4647 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4647 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from to Mental retardation, autosomal recessive 48, MIM# 616269
Intellectual disability syndromic and non-syndromic v0.4646 SLC6A17 Zornitza Stark Publications for gene: SLC6A17 were set to
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Marked gene: TAMM41 as ready
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.762 TAMM41 Bryony Thompson gene: TAMM41 was added
gene: TAMM41 was added to Mitochondrial disease. Sources: Literature
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 inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis
Review for gene: TAMM41 was set to GREEN
Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption.
Sources: Literature
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Marked gene: BNIP1 as ready
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12379 TAMM41 Bryony Thompson Marked gene: TAMM41 as ready
Mendeliome v0.12379 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mendeliome v0.12379 TAMM41 Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
Mendeliome v0.12379 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mendeliome v0.12378 TAMM41 Bryony Thompson gene: TAMM41 was added
gene: TAMM41 was added to Mendeliome. Sources: Literature
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 inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis
Review for gene: TAMM41 was set to GREEN
Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4645 SLC6A17 Zornitza Stark Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4644 SLC6A17 Zornitza Stark Classified gene: SLC6A17 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4644 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4643 SLC6A17 Zornitza Stark reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12377 SLC6A17 Zornitza Stark Phenotypes for gene: SLC6A17 were changed from to Mental retardation, autosomal recessive 48, MIM# 616269
Mendeliome v0.12376 SLC6A17 Zornitza Stark Publications for gene: SLC6A17 were set to
Mendeliome v0.12375 SLC6A17 Zornitza Stark Mode of inheritance for gene: SLC6A17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12374 SLC6A17 Zornitza Stark Classified gene: SLC6A17 as Amber List (moderate evidence)
Mendeliome v0.12374 SLC6A17 Zornitza Stark Gene: slc6a17 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12373 SLC6A17 Zornitza Stark reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: None; Publications: 25704603, 23672601; Phenotypes: Mental retardation, autosomal recessive 48, MIM# 616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Dementia v0.154 APOE Elena Savva reviewed gene: APOE: Rating: AMBER; Mode of pathogenicity: Other; Publications: PMID: 33679311; Phenotypes: Alzheimer disease 2 MIM#104310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12373 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Mendeliome v0.12373 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Mendeliome v0.12373 SLC6A19 Zornitza Stark Phenotypes for gene: SLC6A19 were changed from to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Mendeliome v0.12372 SLC6A19 Zornitza Stark Mode of inheritance for gene: SLC6A19 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence)
Skeletal dysplasia v0.159 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.158 BNIP1 Bryony Thompson gene: BNIP1 was added
gene: BNIP1 was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BNIP1 were set to 35266227; 31344970
Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761
Review for gene: BNIP1 was set to AMBER
Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation.
Sources: Literature
Mendeliome v0.12371 BNIP1 Bryony Thompson Marked gene: BNIP1 as ready
Mendeliome v0.12371 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12371 BNIP1 Bryony Thompson Classified gene: BNIP1 as Amber List (moderate evidence)
Mendeliome v0.12371 BNIP1 Bryony Thompson Gene: bnip1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12370 BNIP1 Bryony Thompson gene: BNIP1 was added
gene: BNIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: BNIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BNIP1 were set to 35266227; 31344970
Phenotypes for gene: BNIP1 were set to spondyloepiphyseal dysplasia MONDO:0016761
Review for gene: BNIP1 was set to AMBER
Added comment: Two apparently unrelated cases with spondyloepiphyseal dysplasia from India were identified with the same variant (c.84+3A>T). The kindred coefficient comparison of the 2 cases exome data suggested they were unrelated, however there was a stretch of shared homozygosity suggesting remote consanguinity. ~80% aberrantly spliced BNIP1 pre-mRNAs, reduced BNIP1 mRNA level to ~80%, and BNIP1 protein level reduction by ~50% were detected in one of the cases fibroblasts. A block at the terminal stage of autolysosome formation and/or clearance in patient fibroblasts was suggested based on the data. A drosophila model of the BNIP1 orthologue Sec20 also demonstrated defective autolysosome formation.
Sources: Literature
Mendeliome v0.12369 EIF4E Bryony Thompson Marked gene: EIF4E as ready
Mendeliome v0.12369 EIF4E Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
Mendeliome v0.12369 EIF4E Bryony Thompson Phenotypes for gene: EIF4E were changed from to {Autism, susceptibility to, 19} MIM#615091
Mendeliome v0.12368 EIF4E Bryony Thompson Publications for gene: EIF4E were set to
Mendeliome v0.12367 EIF4E Bryony Thompson Classified gene: EIF4E as Red List (low evidence)
Mendeliome v0.12367 EIF4E Bryony Thompson Gene: eif4e has been classified as Red List (Low Evidence).
Mendeliome v0.12366 EIF4E Bryony Thompson reviewed gene: EIF4E: Rating: RED; Mode of pathogenicity: None; Publications: 19556253, 23263185, 23172145; Phenotypes: {Autism, susceptibility to, 19} MIM#615091; Mode of inheritance: Unknown
Mendeliome v0.12366 TLL1 Zornitza Stark Marked gene: TLL1 as ready
Mendeliome v0.12366 TLL1 Zornitza Stark Gene: tll1 has been classified as Green List (High Evidence).
Mendeliome v0.12366 TLL1 Zornitza Stark Phenotypes for gene: TLL1 were changed from Atrial septal defect to Atrial septal defect 6, MIM# 613087
Mendeliome v0.12365 TLL1 Zornitza Stark reviewed gene: TLL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial septal defect 6, MIM# 613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.761 TK2 Zornitza Stark Marked gene: TK2 as ready
Mitochondrial disease v0.761 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.761 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069
Mitochondrial disease v0.760 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mitochondrial disease v0.759 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.758 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12365 TK2 Zornitza Stark Marked gene: TK2 as ready
Mendeliome v0.12365 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Mendeliome v0.12365 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; MIM# 617069
Mendeliome v0.12364 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mendeliome v0.12363 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Marked gene: TK2 as ready
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Publications for gene: TK2 were set to
Rhabdomyolysis and Metabolic Myopathy v0.87 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33457207; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Mendeliome v0.12362 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Mendeliome v0.12362 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748
Mendeliome v0.12361 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Mendeliome v0.12360 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12359 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.230 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Cholestasis v0.230 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Cholestasis v0.230 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Cholestasis v0.229 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from Sorsby fundus dystrophy to Sorsby fundus dystrophy, MIM# 136900
Macular Dystrophy/Stargardt Disease v0.33 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.31 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12359 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Mendeliome v0.12359 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Mendeliome v0.12359 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from to Sorsby fundus dystrophy, MIM# 136900
Mendeliome v0.12358 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Mendeliome v0.12357 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12356 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mitochondrial disease v0.757 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mitochondrial disease v0.756 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12356 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mendeliome v0.12356 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mendeliome v0.12356 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mendeliome v0.12355 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mendeliome v0.12354 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.27 ZNF423 Arina Puzriakova reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM44 Zornitza Stark Marked gene: TIMM44 as ready
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12353 TIMM44 Zornitza Stark Classified gene: TIMM44 as Red List (low evidence)
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12352 TIMM44 Zornitza Stark reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12352 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Mendeliome v0.12352 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Mendeliome v0.12352 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Mendeliome v0.12351 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Mendeliome v0.12350 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22105173, 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TTBK2 Zornitza Stark Marked gene: TTBK2 as ready
Mendeliome v0.12349 TTBK2 Zornitza Stark Gene: ttbk2 has been classified as Green List (High Evidence).
Mendeliome v0.12349 TTBK2 Zornitza Stark Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464
Mendeliome v0.12348 TTBK2 Zornitza Stark Publications for gene: TTBK2 were set to
Mendeliome v0.12347 TTBK2 Zornitza Stark Mode of inheritance for gene: TTBK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTBK2 Zornitza Stark reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301723; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTLL5 Zornitza Stark Marked gene: TTLL5 as ready
Mendeliome v0.12346 TTLL5 Zornitza Stark Gene: ttll5 has been classified as Green List (High Evidence).
Mendeliome v0.12346 TTLL5 Zornitza Stark Phenotypes for gene: TTLL5 were changed from to Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372
Mendeliome v0.12345 TTLL5 Zornitza Stark Publications for gene: TTLL5 were set to
Mendeliome v0.12344 TTLL5 Zornitza Stark Mode of inheritance for gene: TTLL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12343 TTR Zornitza Stark Marked gene: TTR as ready
Mendeliome v0.12343 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Mendeliome v0.12343 TTR Zornitza Stark Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430
Mendeliome v0.12342 TTR Zornitza Stark Publications for gene: TTR were set to
Mendeliome v0.12341 TTR Zornitza Stark Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Marked gene: APOE as ready
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Phenotypes for gene: APOE were changed from to Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600)
Familial hypercholesterolaemia v0.24 APOE Zornitza Stark Publications for gene: APOE were set to
Familial hypercholesterolaemia v0.23 APOE Zornitza Stark Mode of inheritance for gene: APOE was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12340 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12339 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure to Leukoencephalopathy with vanishing white matter, MIM# 603896; leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12338 PADI6 Zornitza Stark Marked gene: PADI6 as ready
Mendeliome v0.12338 PADI6 Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence).
Mendeliome v0.12338 PADI6 Zornitza Stark Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole
Mendeliome v0.12337 PADI6 Zornitza Stark Publications for gene: PADI6 were set to
Mendeliome v0.12336 PADI6 Zornitza Stark Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12335 PADI3 Zornitza Stark Marked gene: PADI3 as ready
Mendeliome v0.12335 PADI3 Zornitza Stark Gene: padi3 has been classified as Green List (High Evidence).
Mendeliome v0.12335 PADI3 Zornitza Stark Phenotypes for gene: PADI3 were changed from to Uncombable hair syndrome - MIM#191480
Mendeliome v0.12334 PADI3 Zornitza Stark Publications for gene: PADI3 were set to
Mendeliome v0.12333 PADI3 Zornitza Stark Mode of inheritance for gene: PADI3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
Genetic Epilepsy v0.1533 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Genetic Epilepsy v0.1532 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1531 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12332 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Mendeliome v0.12332 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Mendeliome v0.12332 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
Mendeliome v0.12331 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Mendeliome v0.12330 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12329 PABPN1 Zornitza Stark Marked gene: PABPN1 as ready
Mendeliome v0.12329 PABPN1 Zornitza Stark Gene: pabpn1 has been classified as Green List (High Evidence).
Mendeliome v0.12329 PABPN1 Zornitza Stark Phenotypes for gene: PABPN1 were changed from to Oculopharyngeal muscular dystrophy - MIM#164300
Mendeliome v0.12328 PABPN1 Zornitza Stark Publications for gene: PABPN1 were set to
Mendeliome v0.12327 PABPN1 Zornitza Stark Tag STR tag was added to gene: PABPN1.
Mendeliome v0.12327 PABPN1 Zornitza Stark Mode of inheritance for gene: PABPN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12326 AGK Zornitza Stark Marked gene: AGK as ready
Mendeliome v0.12326 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Mendeliome v0.12326 AGK Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Mendeliome v0.12325 AGK Zornitza Stark Publications for gene: AGK were set to
Mendeliome v0.12324 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTBK2 Manny Jacobs reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18037885, 31485862, 20667868, 27165044; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12323 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Mendeliome v0.12323 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.40 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTR Manny Jacobs reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:1570831, 1626570, 16115295, 16194874, 26537620; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM #105210, Carpal tunnel syndrome, familial, MIM# 115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.22 APOE Lucy Spencer changed review comment from: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with ADH

PMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia.

There is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311).
The E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s.
E4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468).
However it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs.

Therefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias.; to: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with autosomal dominant hypercholesterolemia.

PMID: 34058468 also lists many more variants have been previously reported and associated with a range of dyslipoproteinemias in table 1. Arg163Cys was seen to segregate in a het mother with raised LDL cholesterol and in her homozygote son who had even higher LDL cholesterol. Leu167del and 2 other missense variant have also been seen to segregate in families with familial combined hyperlipidemia.

There is also a lot of talk in the literature about the 3 main alleles of APOE- E3 is wild type with Cys130 (previously 112) and Arg176 (previously 158) (PMID: 33679311).
The E2 allele (with the Arg176Cys variant) has been associated with hyperlipoproteinemia, type III when homozygous, but it seems to be essentially only a risk factor and only causes disease in the presence of other environmental/genetic risk factors (PMID: 34058468). E2 is also a protective factor against Alzheimer’s.
E4 is a risk factor for alzhiemers disease and has the Cys130Arg variant, it is also associated with increased LDL cholesterol levels and thus associated with cardiovascular disease risk (PMID: 34058468).
However it is worth noting that the Arg176Cys variant has 10,066 hets and 465 homs in gnomad v2, and Cys130Arg has 24,455 hets and 2091 homs.

Therefore it seems like there are some risk factor variant in APOE that are very high in the population, but also some genuine variants with reasonable population counts that are associated with a range of hypercholesterolaemias/dyslipoproteinemias.
Familial hypercholesterolaemia v0.22 APOE Lucy Spencer reviewed gene: APOE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27014949, 34058468, 33679311; Phenotypes: Hyperlipoproteinemia, type III (MIM#617347), Sea-blue histiocyte disease (MIM#269600); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12323 EIF2B5 Bryony Thompson Phenotypes for gene: EIF2B5 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12322 EIF2B5 Bryony Thompson Publications for gene: EIF2B5 were set to
Craniosynostosis v1.38 EFNA4 Zornitza Stark Phenotypes for gene: EFNA4 were changed from to Coronal and metopic craniosynostosis
Craniosynostosis v1.37 EFNA4 Zornitza Stark Publications for gene: EFNA4 were set to
Craniosynostosis v1.36 EFNA4 Zornitza Stark Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.324 P3H2 Zornitza Stark Marked gene: P3H2 as ready
Cataract v0.324 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Cataract v0.324 P3H2 Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Cataract v0.323 P3H2 Zornitza Stark Publications for gene: P3H2 were set to 21885030; 24172257; 25469533
Cataract v0.323 P3H2 Zornitza Stark Publications for gene: P3H2 were set to
Cataract v0.322 P3H2 Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12321 P3H2 Zornitza Stark Marked gene: P3H2 as ready
Mendeliome v0.12321 P3H2 Zornitza Stark Gene: p3h2 has been classified as Green List (High Evidence).
Mendeliome v0.12321 P3H2 Zornitza Stark Phenotypes for gene: P3H2 were changed from to Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292
Mendeliome v0.12320 P3H2 Zornitza Stark Publications for gene: P3H2 were set to
Mendeliome v0.12319 P3H2 Zornitza Stark Mode of inheritance for gene: P3H2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12318 ADRB2 Zornitza Stark Mode of inheritance for gene: ADRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12317 EIF2B5 Bryony Thompson Mode of inheritance for gene: EIF2B5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12316 AKT3 Elena Savva Marked gene: AKT3 as ready
Mendeliome v0.12316 AKT3 Elena Savva Gene: akt3 has been classified as Green List (High Evidence).
Mendeliome v0.12316 EIF2B5 Bryony Thompson reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: None; Publications: 11704758, 12325082, 12707859, 14694060, 15136689, 18263758, 25843247, 25761052; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12316 EIF2B4 Bryony Thompson Marked gene: EIF2B4 as ready
Mendeliome v0.12316 EIF2B4 Bryony Thompson Gene: eif2b4 has been classified as Green List (High Evidence).
Mendeliome v0.12316 EIF2B5 Bryony Thompson Deleted their review
Mendeliome v0.12316 AKT3 Elena Savva Phenotypes for gene: AKT3 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937
Mendeliome v0.12316 AKT3 Elena Savva Publications for gene: AKT3 were set to
Mendeliome v0.12315 AKT3 Elena Savva Mode of pathogenicity for gene: AKT3 was changed from to Other
Mendeliome v0.12315 AKT3 Elena Savva Mode of inheritance for gene: AKT3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12314 AKT3 Elena Savva reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 22729224; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 MIM#615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12314 EIF2B4 Bryony Thompson Phenotypes for gene: EIF2B4 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12313 EIF2B4 Bryony Thompson Publications for gene: EIF2B4 were set to
Mendeliome v0.12312 EIF2B4 Bryony Thompson Mode of inheritance for gene: EIF2B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12311 EIF2B4 Bryony Thompson reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 12707859, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12311 EIF2B4 Bryony Thompson Deleted their review
Mendeliome v0.12311 EIF2B3 Bryony Thompson Marked gene: EIF2B3 as ready
Mendeliome v0.12311 EIF2B3 Bryony Thompson Gene: eif2b3 has been classified as Green List (High Evidence).
Mendeliome v0.12311 AFP Zornitza Stark Marked gene: AFP as ready
Mendeliome v0.12311 AFP Zornitza Stark Added comment: Comment when marking as ready: Raised or low levels of AFP are observed in some medical conditions, kept Amber due to possible phenotypic overlap.
Mendeliome v0.12311 AFP Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12311 AFP Zornitza Stark Phenotypes for gene: AFP were changed from to Alpha-fetoprotein deficiency MIM#615969; [Hereditary persistence of alpha-fetoprotein] MIM#615970
Mendeliome v0.12310 AFP Zornitza Stark Publications for gene: AFP were set to
Mendeliome v0.12309 AFP Zornitza Stark Mode of inheritance for gene: AFP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12308 AFP Zornitza Stark Classified gene: AFP as Amber List (moderate evidence)
Mendeliome v0.12308 AFP Zornitza Stark Gene: afp has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12307 EIF2B3 Bryony Thompson Phenotypes for gene: EIF2B3 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
Mendeliome v0.12306 EIF2B3 Bryony Thompson Publications for gene: EIF2B3 were set to
Mendeliome v0.12305 EIF2B3 Bryony Thompson Mode of inheritance for gene: EIF2B3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12304 EIF2B3 Bryony Thompson reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 19158808, 21484434, 18263758, 25843247, 25761052, 28904586, 28597716; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12304 CA12 Ain Roesley changed review comment from: Glu143Lys found in 4 Israeli Bedouin families

2 other unrelated families reported with 1 missense (LoF demosntrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD); to: Glu143Lys found in 4 Israeli Bedouin families

2 other unrelated families reported with 1 missense (LoF demonstrated), 1 splice (aberrant splicing proven) and 1 fs (protein truncating, not NMD)
Mendeliome v0.12304 EIF2B3 Bryony Thompson Deleted their review
Mendeliome v0.12304 AHCY Elena Savva Marked gene: AHCY as ready
Mendeliome v0.12304 AHCY Elena Savva Gene: ahcy has been classified as Green List (High Evidence).
Mendeliome v0.12304 AHCY Elena Savva Phenotypes for gene: AHCY were changed from to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752
Mendeliome v0.12304 AHCY Elena Savva Publications for gene: AHCY were set to
Mendeliome v0.12303 AHCY Elena Savva Mode of inheritance for gene: AHCY was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12302 EIF2B1 Bryony Thompson Marked gene: EIF2B1 as ready
Mendeliome v0.12302 EIF2B1 Bryony Thompson Gene: eif2b1 has been classified as Green List (High Evidence).
Mendeliome v0.12302 AGL Elena Savva Phenotypes for gene: AGL were changed from to Glycogen storage disease IIIa and IIIb, MIM#232400
Mendeliome v0.12302 AGL Elena Savva Marked gene: AGL as ready
Mendeliome v0.12302 AGL Elena Savva Gene: agl has been classified as Green List (High Evidence).
Mendeliome v0.12302 AGL Elena Savva Mode of inheritance for gene: AGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12301 EIF2B1 Bryony Thompson Phenotypes for gene: EIF2B1 were changed from to leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy
Mendeliome v0.12300 EIF2B1 Bryony Thompson Publications for gene: EIF2B1 were set to
Mendeliome v0.12299 EIF2B1 Bryony Thompson Mode of inheritance for gene: EIF2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12298 EIF2B1 Bryony Thompson reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11835386, 26285592, 15776425, 18263758, 25843247, 25761052, 30014503; Phenotypes: leukoencephalopathy with vanishing white matter MONDO:0011380, ataxia, spasticity, optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12298 EIF2B1 Bryony Thompson Deleted their review
Mendeliome v0.12298 EIF2AK3 Bryony Thompson Marked gene: EIF2AK3 as ready
Mendeliome v0.12298 EIF2AK3 Bryony Thompson Gene: eif2ak3 has been classified as Green List (High Evidence).
Mendeliome v0.12298 TIA1 Zornitza Stark Mode of inheritance for gene: TIA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12297 TIA1 Zornitza Stark Classified gene: TIA1 as Amber List (moderate evidence)
Mendeliome v0.12297 TIA1 Zornitza Stark Gene: tia1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12296 AGL Elena Savva reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM#232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12296 EIF2AK3 Bryony Thompson Phenotypes for gene: EIF2AK3 were changed from to Wolcott-Rallison syndrome MONDO:0009192; neonatal diabetes mellitus; epiphyseal dysplasia/osteopenia; hepatic/renal dysfunction; intellectual disability/developmental delay
Mendeliome v0.12295 TIA1 Zornitza Stark reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29235362, 29886022, 29773329, 29699721, 29216908, 24659297, 29457785, 28817800, 23401021, 23401021; Phenotypes: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133, Welander distal myopathy (MIM#604454); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12295 EIF2AK3 Bryony Thompson Publications for gene: EIF2AK3 were set to
Mendeliome v0.12294 EIF2AK3 Bryony Thompson Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12293 THSD1 Zornitza Stark Marked gene: THSD1 as ready
Mendeliome v0.12293 THSD1 Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12293 THSD1 Zornitza Stark Phenotypes for gene: THSD1 were changed from to Aneurysm, intracranial berry, 12 , MIM# 618734
Mendeliome v0.12292 THSD1 Zornitza Stark Publications for gene: THSD1 were set to
Mendeliome v0.12291 THSD1 Zornitza Stark Mode of inheritance for gene: THSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12290 THSD1 Zornitza Stark Classified gene: THSD1 as Amber List (moderate evidence)
Mendeliome v0.12290 THSD1 Zornitza Stark Gene: thsd1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12289 THSD1 Zornitza Stark edited their review of gene: THSD1: Changed publications: 27895300
Mendeliome v0.12289 THSD1 Zornitza Stark reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aneurysm, intracranial berry, 12 , MIM# 618734; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12289 EFNA4 Bryony Thompson Marked gene: EFNA4 as ready
Mendeliome v0.12289 EFNA4 Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12289 EIF2AK3 Bryony Thompson reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10932183, 12960215, 16813601, 11997520, 20202148; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192, neonatal diabetes mellitus, epiphyseal dysplasia/osteopenia, hepatic/renal dysfunction, intellectual disability/developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12289 EFNA4 Bryony Thompson Phenotypes for gene: EFNA4 were changed from to craniosynostosis MONDO:0015469
Mendeliome v0.12288 RBMX Zornitza Stark Marked gene: RBMX as ready
Mendeliome v0.12288 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12288 RBMX Zornitza Stark Classified gene: RBMX as Amber List (moderate evidence)
Mendeliome v0.12288 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12287 RBMX Zornitza Stark gene: RBMX was added
gene: RBMX was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
Review for gene: RBMX was set to AMBER
Added comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4643 RBMX Zornitza Stark Marked gene: RBMX as ready
Intellectual disability syndromic and non-syndromic v0.4643 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4643 RBMX Zornitza Stark Classified gene: RBMX as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4643 RBMX Zornitza Stark Gene: rbmx has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4642 RBMX Zornitza Stark gene: RBMX was added
gene: RBMX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: RBMX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBMX were set to 25256757; 34260915
Phenotypes for gene: RBMX were set to Intellectual developmental disorder, syndromic 11, Shashi type, MIM#300238
Review for gene: RBMX was set to AMBER
Added comment: Hemizygous truncating variant reported segregating in multiple affected individuals in a single family. Some supportive functional data.
Sources: Expert Review
Cataract v0.321 AGK Elena Savva Publications for gene: AGK were set to 22415731; 25208612
Mendeliome v0.12286 EFNA4 Bryony Thompson Publications for gene: EFNA4 were set to
Cataract v0.321 AGK Elena Savva Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.321 AGK Elena Savva Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350; Cataract 38 MIM#614691 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.320 AGK Elena Savva Mode of inheritance for gene: AGK was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.320 AGK Elena Savva Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Cataract v0.320 AGK Elena Savva Publications for gene: AGK were set to
Mendeliome v0.12285 PADI6 Krithika Murali reviewed gene: PADI6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29693651, 33583041, 329228291, 33221824, 27545678; Phenotypes: Pre-implantation embryonic lethality 2 MIM#617234, Multi locus imprinting disturbance in offspring, Recurrent hydatiform mole; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.320 AGK Elena Savva Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.319 AGK Elena Savva Marked gene: AGK as ready
Cataract v0.319 AGK Elena Savva Gene: agk has been classified as Green List (High Evidence).
Cataract v0.319 AGK Elena Savva reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12285 EFNA4 Bryony Thompson Mode of inheritance for gene: EFNA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12284 PADI3 Krithika Murali reviewed gene: PADI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27866708, 22381266, 30763140; Phenotypes: Uncombable hair syndrome - MIM#191480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12284 PACS2 Krithika Murali reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12284 EHBP1 Bryony Thompson Marked gene: EHBP1 as ready
Mendeliome v0.12284 EHBP1 Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.12284 EHBP1 Bryony Thompson Phenotypes for gene: EHBP1 were changed from to {Prostate cancer, hereditary, 12} MIM#611868
Mendeliome v0.12283 EHBP1 Bryony Thompson Classified gene: EHBP1 as Red List (low evidence)
Mendeliome v0.12283 EHBP1 Bryony Thompson Gene: ehbp1 has been classified as Red List (Low Evidence).
Mendeliome v0.12282 EHBP1 Bryony Thompson reviewed gene: EHBP1: Rating: RED; Mode of pathogenicity: None; Publications: 18264098; Phenotypes: {Prostate cancer, hereditary, 12} MIM#611868; Mode of inheritance: None
Mendeliome v0.12282 PABPN1 Krithika Murali reviewed gene: PABPN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19080757, 33805441; Phenotypes: Oculopharyngeal muscular dystrophy - MIM#164300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12282 AGK Elena Savva reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22415731, 25208612; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12282 EDNRB Bryony Thompson Marked gene: EDNRB as ready
Mendeliome v0.12282 EDNRB Bryony Thompson Gene: ednrb has been classified as Green List (High Evidence).
Mendeliome v0.12282 EFNA4 Bryony Thompson Classified gene: EFNA4 as Amber List (moderate evidence)
Mendeliome v0.12282 EFNA4 Bryony Thompson Gene: efna4 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12281 EFNA4 Bryony Thompson reviewed gene: EFNA4: Rating: AMBER; Mode of pathogenicity: None; Publications: 16540516, 19201948, 19772933, 23983218, 29168297, 29215649, 33065355, 34586326; Phenotypes: craniosynostosis MONDO:0015469; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.319 P3H2 Krithika Murali reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12281 P3H2 Krithika Murali reviewed gene: P3H2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21885030, 24172257, 25469533; Phenotypes: Myopia, high, with cataract and vitreoretinal degeneration - MIM#614292; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12281 AFP Elena Savva reviewed gene: AFP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 15280901, 18854864; Phenotypes: Alpha-fetoprotein deficiency MIM#615969, [Hereditary persistence of alpha-fetoprotein] MIM#615970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12281 ADRB2 Elena Savva Marked gene: ADRB2 as ready
Mendeliome v0.12281 ADRB2 Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
Mendeliome v0.12281 ADRB2 Elena Savva Phenotypes for gene: ADRB2 were changed from to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665
Mendeliome v0.12280 ADRB2 Elena Savva Publications for gene: ADRB2 were set to
Mendeliome v0.12280 ADRB2 Elena Savva Classified gene: ADRB2 as Red List (low evidence)
Mendeliome v0.12280 ADRB2 Elena Savva Gene: adrb2 has been classified as Red List (Low Evidence).
Mendeliome v0.12279 THRB Zornitza Stark Marked gene: THRB as ready
Mendeliome v0.12279 THRB Zornitza Stark Gene: thrb has been classified as Green List (High Evidence).
Mendeliome v0.12279 THRB Zornitza Stark Phenotypes for gene: THRB were changed from to Thyroid hormone resistance, MIM# 188570; Thyroid hormone resistance, autosomal recessive, MIM# 274300; Thyroid hormone resistance, selective pituitary, MIM# 145650
Mendeliome v0.12278 THRB Zornitza Stark Publications for gene: THRB were set to
Mendeliome v0.12277 THRB Zornitza Stark Mode of inheritance for gene: THRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12276 THRB Zornitza Stark reviewed gene: THRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 31590893; Phenotypes: Thyroid hormone resistance, MIM# 188570, Thyroid hormone resistance, autosomal recessive, MIM# 274300, Thyroid hormone resistance, selective pituitary, MIM# 145650; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4641 WDR11 Elena Savva Phenotypes for gene: WDR11 were changed from Neurodevelopmental disorder, MONDO:0700092, WDR11-related to Neurodevelopmental disorder, MONDO:0700092, WDR11-related
Mendeliome v0.12276 ADRB2 Elena Savva reviewed gene: ADRB2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 15724149; Phenotypes: Beta-2-adrenoreceptor agonist, reduced response to, {Asthma, nocturnal, susceptibility to} MIM#600807, {Obesity, susceptibility to} MIM#601665; Mode of inheritance: Unknown
Intellectual disability syndromic and non-syndromic v0.4640 WDR11 Elena Savva Phenotypes for gene: WDR11 were changed from Intellectual disability; Microcephaly; Short stature to Neurodevelopmental disorder, MONDO:0700092, WDR11-related
Intellectual disability syndromic and non-syndromic v0.4640 WDR11 Elena Savva Publications for gene: WDR11 were set to 34413497
Intellectual disability syndromic and non-syndromic v0.4639 WDR11 Elena Savva Mode of inheritance for gene: WDR11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4638 WDR11 Elena Savva reviewed gene: WDR11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, WDR11-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12276 SLC6A2 Zornitza Stark Marked gene: SLC6A2 as ready
Mendeliome v0.12276 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12276 SLC6A2 Zornitza Stark Phenotypes for gene: SLC6A2 were changed from to Orthostatic intolerance, MIM# 604715
Mendeliome v0.12275 SLC6A2 Zornitza Stark Publications for gene: SLC6A2 were set to
Mendeliome v0.12274 SLC6A2 Zornitza Stark Mode of inheritance for gene: SLC6A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12273 SLC6A2 Zornitza Stark Classified gene: SLC6A2 as Red List (low evidence)
Mendeliome v0.12273 SLC6A2 Zornitza Stark Gene: slc6a2 has been classified as Red List (Low Evidence).
Mendeliome v0.12272 SLC6A2 Zornitza Stark reviewed gene: SLC6A2: Rating: RED; Mode of pathogenicity: None; Publications: 10684912; Phenotypes: Orthostatic intolerance, MIM# 604715; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Marked gene: SMARCAD1 as ready
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Gene: smarcad1 has been classified as Green List (High Evidence).
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000 to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
Mendeliome v0.12272 SMARCAD1 Zornitza Stark Phenotypes for gene: SMARCAD1 were changed from to Huriez syndrome, OMIM #181600; Basan syndrome, MIM# 129200; Adermatoglyphia, MIM# 136000
Mendeliome v0.12271 SMARCAD1 Zornitza Stark Publications for gene: SMARCAD1 were set to
Mendeliome v0.12270 SMARCAD1 Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12269 SMARCAD1 Zornitza Stark Mode of inheritance for gene: SMARCAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12268 SMARCAD1 Zornitza Stark reviewed gene: SMARCAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29409814; Phenotypes: Huriez syndrome, OMIM #181600, Basan syndrome, MIM# 129200, Adermatoglyphia, MIM# 136000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12268 SMARCB1 Zornitza Stark Marked gene: SMARCB1 as ready
Mendeliome v0.12268 SMARCB1 Zornitza Stark Gene: smarcb1 has been classified as Green List (High Evidence).
Mendeliome v0.12268 SMARCB1 Zornitza Stark Phenotypes for gene: SMARCB1 were changed from to Coffin-Siris syndrome 3, MIM# 614608
Mendeliome v0.12267 SMARCB1 Zornitza Stark Publications for gene: SMARCB1 were set to
Mendeliome v0.12266 SMARCB1 Zornitza Stark Mode of inheritance for gene: SMARCB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12265 SMARCB1 Zornitza Stark reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34205270, 31530938, 25168959; Phenotypes: Coffin-Siris syndrome 3, MIM# 614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12265 SMN2 Zornitza Stark Marked gene: SMN2 as ready
Mendeliome v0.12265 SMN2 Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12265 SMN2 Zornitza Stark Phenotypes for gene: SMN2 were changed from to {Spinal muscular atrophy, type III, modifier of} 253400
Mendeliome v0.12264 SMN2 Zornitza Stark Mode of inheritance for gene: SMN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12263 SMN2 Zornitza Stark Classified gene: SMN2 as Amber List (moderate evidence)
Mendeliome v0.12263 SMN2 Zornitza Stark Gene: smn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12262 SMN2 Zornitza Stark reviewed gene: SMN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: {Spinal muscular atrophy, type III, modifier of} 253400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12262 OTOG Zornitza Stark Marked gene: OTOG as ready
Mendeliome v0.12262 OTOG Zornitza Stark Gene: otog has been classified as Green List (High Evidence).
Mendeliome v0.12262 OTOG Zornitza Stark Phenotypes for gene: OTOG were changed from to Deafness, autosomal recessive 18B - MIM#614945
Intellectual disability syndromic and non-syndromic v0.4638 RAB3GAP2 Zornitza Stark Marked gene: RAB3GAP2 as ready
Intellectual disability syndromic and non-syndromic v0.4638 RAB3GAP2 Zornitza Stark Gene: rab3gap2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4638 RAB3GAP2 Zornitza Stark Phenotypes for gene: RAB3GAP2 were changed from to Martsolf syndrome (MIM212720); Warburg micro syndrome 2 (MIM#614225)
Intellectual disability syndromic and non-syndromic v0.4637 RAB3GAP2 Zornitza Stark Publications for gene: RAB3GAP2 were set to
Intellectual disability syndromic and non-syndromic v0.4636 RAB3GAP2 Zornitza Stark Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12261 EDNRB Bryony Thompson Phenotypes for gene: EDNRB were changed from to Waardenburg syndrome type 4A MONDO:0010192; sensorineural hearing loss; pigmentary abnormalities; Hirschsprung disease
Mendeliome v0.12260 EDNRB Bryony Thompson Publications for gene: EDNRB were set to
Mendeliome v0.12259 EDNRB Bryony Thompson Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12258 EDNRB Bryony Thompson reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 28502583, 25852447, 21373256, 16237557, 11773966, 11891690, 8001158, 10528251, 10528251, 19764031, 28236341; Phenotypes: Waardenburg syndrome type 4A (MONDO:0010192); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v1.9 RGS9BP Bryony Thompson Deleted their review
Congenital nystagmus v1.9 RGS9 Bryony Thompson Deleted their review
Mendeliome v0.12258 OTOG Zornitza Stark Publications for gene: OTOG were set to
Mendeliome v0.12257 OTOG Zornitza Stark Mode of inheritance for gene: OTOG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Bleeding and Platelet Disorders v1.9 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 32245340; 22461475
Mendeliome v0.12256 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Congenital nystagmus v1.9 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Congenital nystagmus v1.8 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Congenital nystagmus v1.8 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Mendeliome v0.12255 OTC Zornitza Stark Marked gene: OTC as ready
Mendeliome v0.12255 OTC Zornitza Stark Gene: otc has been classified as Green List (High Evidence).
Bleeding and Platelet Disorders v1.8 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Bleeding and Platelet Disorders v1.8 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v1.5 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Mendeliome v0.12255 OTC Zornitza Stark Phenotypes for gene: OTC were changed from to Ornithine transcarbamylase deficiency - MIM#311250
Mendeliome v0.12254 OTC Zornitza Stark Mode of inheritance for gene: OTC was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12253 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Mendeliome v0.12253 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Ocular and Oculocutaneous Albinism v1.4 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Ocular and Oculocutaneous Albinism v1.4 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Osteopetrosis v0.18 OSTM1 Zornitza Stark Marked gene: OSTM1 as ready
Osteopetrosis v0.18 OSTM1 Zornitza Stark Gene: ostm1 has been classified as Green List (High Evidence).
Osteopetrosis v0.18 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 MIM#259720
Mendeliome v0.12253 OSTM1 Zornitza Stark Phenotypes for gene: OSTM1 were changed from to Osteopetrosis, autosomal recessive 5 (MIM#259720)
Osteopetrosis v0.17 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Osteopetrosis v0.17 OSTM1 Zornitza Stark Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12252 OSTM1 Zornitza Stark Publications for gene: OSTM1 were set to
Mendeliome v0.12251 OSTM1 Zornitza Stark Mode of inheritance for gene: OSTM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.129 Bryony Thompson Panel types changed to Victorian Clinical Genetics Services; Melbourne Genomics; Rare Disease; Royal Melbourne Hospital
Mendeliome v0.12250 OSMR Zornitza Stark Marked gene: OSMR as ready
Mendeliome v0.12250 OSMR Zornitza Stark Gene: osmr has been classified as Green List (High Evidence).
Mendeliome v0.12250 OSMR Zornitza Stark Phenotypes for gene: OSMR were changed from to Amyloidosis, primary localized cutaneous, 1 - MIM#105250
Mendeliome v0.12249 OSMR Zornitza Stark Publications for gene: OSMR were set to
Mendeliome v0.12248 OSMR Zornitza Stark Mode of inheritance for gene: OSMR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12247 OSBPL2 Zornitza Stark Marked gene: OSBPL2 as ready
Mendeliome v0.12247 OSBPL2 Zornitza Stark Gene: osbpl2 has been classified as Green List (High Evidence).
Mendeliome v0.12247 OSBPL2 Zornitza Stark Phenotypes for gene: OSBPL2 were changed from to Deafness, autosomal dominant 67 - MIM#616340
Mendeliome v0.12246 OSBPL2 Zornitza Stark Publications for gene: OSBPL2 were set to
Mendeliome v0.12245 OSBPL2 Zornitza Stark Mode of inheritance for gene: OSBPL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12244 OR2J3 Zornitza Stark Marked gene: OR2J3 as ready
Mendeliome v0.12244 OR2J3 Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
Mendeliome v0.12244 OR2J3 Zornitza Stark Classified gene: OR2J3 as Red List (low evidence)
Mendeliome v0.12244 OR2J3 Zornitza Stark Gene: or2j3 has been classified as Red List (Low Evidence).
Mendeliome v0.12243 OPN1SW Zornitza Stark Marked gene: OPN1SW as ready
Mendeliome v0.12243 OPN1SW Zornitza Stark Gene: opn1sw has been classified as Green List (High Evidence).
Mendeliome v0.12243 OPN1SW Zornitza Stark Phenotypes for gene: OPN1SW were changed from to Colourblindness, tritan - MIM#190900
Mendeliome v0.12242 OPN1SW Zornitza Stark Publications for gene: OPN1SW were set to
Mendeliome v0.12241 OPN1SW Zornitza Stark Mode of inheritance for gene: OPN1SW was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Marked gene: OPN1MW as ready
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.40 OPN1MW Zornitza Stark Phenotypes for gene: OPN1MW were changed from Blue cone monochromacy MIM#303700; Colorblindness, deutan MIM#303800 to Blue cone monochromacy MIM#303700; Colourblindness, deutan MIM#303800
Cone-rod Dystrophy v0.39 OPN1MW Zornitza Stark Publications for gene: OPN1MW were set to 30679166
Cone-rod Dystrophy v0.38 OPN1MW Zornitza Stark Classified gene: OPN1MW as Amber List (moderate evidence)
Cone-rod Dystrophy v0.38 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.37 OPN1MW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1MW.
Mendeliome v0.12240 OPN1MW Zornitza Stark Marked gene: OPN1MW as ready
Mendeliome v0.12240 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12240 OPN1MW Zornitza Stark Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, deutan - MIM#303800
Mendeliome v0.12239 OPN1MW Zornitza Stark Publications for gene: OPN1MW were set to
Mendeliome v0.12238 OPN1MW Zornitza Stark Mode of inheritance for gene: OPN1MW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12237 OPN1MW Zornitza Stark Classified gene: OPN1MW as Amber List (moderate evidence)
Mendeliome v0.12237 OPN1MW Zornitza Stark Gene: opn1mw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12236 OPN1MW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1MW.
Hydrops fetalis v0.244 FLT4 Zornitza Stark Marked gene: FLT4 as ready
Hydrops fetalis v0.244 FLT4 Zornitza Stark Gene: flt4 has been classified as Green List (High Evidence).
Hydrops fetalis v0.244 FLT4 Zornitza Stark Phenotypes for gene: FLT4 were changed from to Lymphatic malformation 1, MIM# 153100
Hydrops fetalis v0.243 FLT4 Zornitza Stark Publications for gene: FLT4 were set to
Hydrops fetalis v0.242 FLT4 Zornitza Stark Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.37 OPN1LW Zornitza Stark Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy MIM#303700; Colorblindness, protan MIM#303900 to Blue cone monochromacy MIM#303700; Colourblindness, protan MIM#303900
Cone-rod Dystrophy v0.36 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to 30679166
Cone-rod Dystrophy v0.35 OPN1LW Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence)
Cone-rod Dystrophy v0.35 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Cone-rod Dystrophy v0.34 OPN1LW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW.
Mendeliome v0.12236 OPN1LW Zornitza Stark Marked gene: OPN1LW as ready
Mendeliome v0.12236 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12236 OPN1LW Zornitza Stark Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, protan - MIM#303900
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Marked gene: HAVCR2 as ready
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Gene: havcr2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Classified gene: HAVCR2 as Green List (high evidence)
Disorders of immune dysregulation v0.128 HAVCR2 Bryony Thompson Gene: havcr2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.127 HAVCR2 Bryony Thompson gene: HAVCR2 was added
gene: HAVCR2 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAVCR2 were set to 30792187; 30374066
Phenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398
Review for gene: HAVCR2 was set to GREEN
gene: HAVCR2 was marked as current diagnostic
Added comment: Hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation, is a common feature of the condition.
Sources: Expert list
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Marked gene: GATA2 as ready
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Gene: gata2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Classified gene: GATA2 as Green List (high evidence)
Disorders of immune dysregulation v0.126 GATA2 Bryony Thompson Gene: gata2 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.125 GATA2 Bryony Thompson gene: GATA2 was added
gene: GATA2 was added to Disorders of immune dysregulation. Sources: Expert list
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 26395816; 27169477; 29493060; 30564229; 31350183; 33410496; 33684095; 34040617
Phenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)
Review for gene: GATA2 was set to GREEN
gene: GATA2 was marked as current diagnostic
Added comment: At least 8 GATA2 deficiency cases reported with hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation.
Sources: Expert list
Mendeliome v0.12235 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340
Mendeliome v0.12234 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Mendeliome v0.12234 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Mendeliome v0.12233 BLOC1S6 Bryony Thompson reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.124 BLOC1S6 Bryony Thompson Publications for gene: BLOC1S6 were set to 22461475; 21665000
Disorders of immune dysregulation v0.123 BLOC1S6 Bryony Thompson Classified gene: BLOC1S6 as Green List (high evidence)
Disorders of immune dysregulation v0.123 BLOC1S6 Bryony Thompson Gene: bloc1s6 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.122 BLOC1S6 Bryony Thompson reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12233 OPN1LW Zornitza Stark Publications for gene: OPN1LW were set to
Mendeliome v0.12232 OPN1LW Zornitza Stark Mode of inheritance for gene: OPN1LW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12231 OPN1LW Zornitza Stark Classified gene: OPN1LW as Amber List (moderate evidence)
Mendeliome v0.12231 OPN1LW Zornitza Stark Gene: opn1lw has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12230 OPN1LW Zornitza Stark Tag SV/CNV tag was added to gene: OPN1LW.
Mendeliome v0.12230 SERPINA6 Zornitza Stark Marked gene: SERPINA6 as ready
Mendeliome v0.12230 SERPINA6 Zornitza Stark Gene: serpina6 has been classified as Green List (High Evidence).
Mendeliome v0.12230 SERPINA6 Zornitza Stark Phenotypes for gene: SERPINA6 were changed from to Corticosteroid-binding globulin deficiency, MIM#611489; Corticosteroid-binding globulin deficiency, MONDO#0012675
Mendeliome v0.12229 SERPINA6 Zornitza Stark Publications for gene: SERPINA6 were set to
Mendeliome v0.12228 SERPINA6 Zornitza Stark Mode of inheritance for gene: SERPINA6 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.228 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Cholestasis v0.228 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Cholestasis v0.228 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282
Cholestasis v0.227 SERPINA1 Zornitza Stark Publications for gene: SERPINA1 were set to
Cholestasis v0.226 SERPINA1 Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12227 SERPINA1 Zornitza Stark Marked gene: SERPINA1 as ready
Mendeliome v0.12227 SERPINA1 Zornitza Stark Gene: serpina1 has been classified as Green List (High Evidence).
Mendeliome v0.12227 SERPINA1 Zornitza Stark Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282
Mendeliome v0.12226 SERPINA1 Zornitza Stark Publications for gene: SERPINA1 were set to
Mendeliome v0.12225 SERPINA1 Zornitza Stark Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4635 RAB3GAP2 Teresa Zhao reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 32376645; Phenotypes: Martsolf syndrome (MIM212720), Warburg micro syndrome 2 (MIM#614225); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OTOG Krithika Murali reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OTC Krithika Murali reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency - MIM#311250; 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 v0.12224 OSTM1 Krithika Murali reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 OSMR Krithika Murali reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375894, 19528426, 25054142, 20507362, 19690585; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OSBPL2 Krithika Murali reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67 - MIM#616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OR2J3 Krithika Murali changed review comment from: No mendelian gene disease association; to: No mendelian gene disease association reported
Mendeliome v0.12224 OR2J3 Krithika Murali reviewed gene: OR2J3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12224 OPN1SW Krithika Murali reviewed gene: OPN1SW: Rating: GREEN; Mode of pathogenicity: None; Publications: 1531728, 2937147, 22065927, 32400513, 31944634; Phenotypes: Colorblindness, tritan - MIM#190900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cone-rod Dystrophy v0.34 OPN1MW Krithika Murali reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12224 OPN1MW Krithika Murali reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cone-rod Dystrophy v0.34 OPN1LW Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrops fetalis v0.241 FLT4 Abhijit Kulkarni reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16231305, 16965327; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12224 OPN1LW Krithika Murali reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12224 SERPINA6 Samantha Ayres reviewed gene: SERPINA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502797, 27214312, 21795453, 34308089, 22013108; Phenotypes: Corticosteroid-binding globulin deficiency, MIM#611489, Corticosteroid-binding globulin deficiency, MONDO#0012675; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Cholestasis v0.225 SERPINA1 Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 SERPINA1 Samantha Ayres changed review comment from: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.

MUTATIONAL & CLINICAL SPECTRUM
ZZ genotype: 2% have severe, neonatal/early-onset liver disease (potentially fatal/requiring liver transplantation), up to 6% have childhood onset liver disease. Also associated with adult-onset lung disease particularly emphysema (50%+ penetrance) - smoking is an important risk factor (close to 100% penetrance).

TREATMENT
There is no specific treatment for liver disease beyond transplant. There is treatment (AAT augmentation therapy) available to delay progression of lung disease phenotype.
Mendeliome v0.12224 SERPINA1 Samantha Ayres changed review comment from: Well established gene-disease association

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.
Mendeliome v0.12224 SERPINA1 Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 THRA Zornitza Stark Marked gene: THRA as ready
Mendeliome v0.12224 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Mendeliome v0.12224 THRA Zornitza Stark Phenotypes for gene: THRA were changed from to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Mendeliome v0.12223 THRA Zornitza Stark Publications for gene: THRA were set to
Mendeliome v0.12222 THRA Zornitza Stark Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12221 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 27381958, 24847459, 27144938; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4635 KCND3 Elena Savva Publications for gene: KCND3 were set to 32823520
Mendeliome v0.12221 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Mendeliome v0.12221 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Mendeliome v0.12221 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Mendeliome v0.12220 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Mendeliome v0.12219 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM3 Zornitza Stark Marked gene: TGM3 as ready
Mendeliome v0.12218 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12218 TGM3 Zornitza Stark Phenotypes for gene: TGM3 were changed from to Uncombable hair syndrome 2 MIM#617251
Mendeliome v0.12217 TGM3 Zornitza Stark Publications for gene: TGM3 were set to
Mendeliome v0.12216 TGM3 Zornitza Stark Mode of inheritance for gene: TGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12215 TGM3 Zornitza Stark Classified gene: TGM3 as Amber List (moderate evidence)
Mendeliome v0.12215 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Marked gene: OAT as ready
Mendeliome v0.12214 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Phenotypes for gene: OAT were changed from to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Mendeliome v0.12213 OAT Zornitza Stark Publications for gene: OAT were set to
Mendeliome v0.12212 OAT Zornitza Stark Mode of inheritance for gene: OAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Marked gene: OAT as ready
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.12 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 33068755; 1618792; 2220818; 3339136; 3417397; 2916581; 1737786; 33463379
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia
Sources: Expert Review
Hyperammonaemia v0.6 OAT Zornitza Stark Marked gene: OAT as ready
Hyperammonaemia v0.6 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Hyperammonaemia v0.6 OAT Zornitza Stark Publications for gene: OAT were set to
Hyperammonaemia v0.5 OAT Zornitza Stark Classified gene: OAT as Red List (low evidence)
Hyperammonaemia v0.5 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Mendeliome v0.12211 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Mendeliome v0.12211 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Mendeliome v0.12211 NUP93 Zornitza Stark Phenotypes for gene: NUP93 were changed from to Nephrotic syndrome, type 12 - MIM#616892
Mendeliome v0.12210 NUP93 Zornitza Stark Publications for gene: NUP93 were set to
Mendeliome v0.12209 NUP93 Zornitza Stark Mode of inheritance for gene: NUP93 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark Tag for review tag was added to gene: NUP62.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12208 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Mendeliome v0.12208 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12208 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile - MIM#271930
Mendeliome v0.12207 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Mendeliome v0.12206 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12205 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Mendeliome v0.12205 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12204 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Regression v0.463 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Regression v0.463 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Regression v0.462 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Mendeliome v0.12204 ADH1B Zornitza Stark Marked gene: ADH1B as ready
Mendeliome v0.12204 ADH1B Zornitza Stark Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12204 ADH1B Zornitza Stark Mode of inheritance for gene: ADH1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Disorders of immune dysregulation v0.121 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Disorders of immune dysregulation v0.120 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12203 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Mendeliome v0.12203 CASP8 Zornitza Stark Added comment: Comment when marking as ready: Amber in view of the functional data.
Mendeliome v0.12203 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.118 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12203 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Mendeliome v0.12202 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Mendeliome v0.12201 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12200 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Mendeliome v0.12200 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12199 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.4 ADCY3 Zornitza Stark gene: ADCY3 was added
gene: ADCY3 was added to Severe early-onset obesity. Sources: Expert Review
Mode of inheritance for gene: ADCY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637
Phenotypes for gene: ADCY3 were set to {Obesity, susceptibility to, BMIQ19} MIM#617885
Review for gene: ADCY3 was set to AMBER
Added comment: PMID: 29311636 - founder canonical splice variant (c.2433-1G>A) in Greenlandic populations demonstrate higher risk of obesity, type 2 diabetes in homozygous individuals PMID: 29311637 - 4 unrelated families with severe early onset obesity, three with homozygous variants.
Sources: Expert Review
Mendeliome v0.12198 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Mendeliome v0.12198 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12198 ADCY3 Zornitza Stark Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885
Mendeliome v0.12197 ADCY3 Zornitza Stark Publications for gene: ADCY3 were set to
Mendeliome v0.12196 ADCY3 Zornitza Stark Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12195 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Mendeliome v0.12195 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Marked gene: CASP10 as ready
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Gene: casp10 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Disorders of immune dysregulation v0.117 CASP10 Zornitza Stark Publications for gene: CASP10 were set to
Disorders of immune dysregulation v0.116 CASP10 Zornitza Stark Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.115 CASP10 Zornitza Stark reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12194 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Mendeliome v0.12194 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Mendeliome v0.12194 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Mendeliome v0.12193 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Mendeliome v0.12192 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 25835445, 15639475; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Mendeliome v0.12191 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Mendeliome v0.12191 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Mendeliome v0.12190 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Mendeliome v0.12189 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
Mendeliome v0.12189 TGFB1 Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Camurati-Engelmann disease, MIM# 131300
Mendeliome v0.12188 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Mendeliome v0.12187 TGFB1 Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29483653, 10973241, 35315241, 30721323; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213, Camurati-Engelmann disease, MIM# 131300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TG Zornitza Stark Marked gene: TG as ready
Mendeliome v0.12186 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Mendeliome v0.12186 TG Zornitza Stark Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3, MIM# 274700
Mendeliome v0.12185 TG Zornitza Stark Publications for gene: TG were set to
Mendeliome v0.12184 TG Zornitza Stark Mode of inheritance for gene: TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 TG Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33832185, 19169491, 28620499, 18631008, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali Deleted their comment
Mendeliome v0.12183 OAT Krithika Murali edited their review of gene: OAT: Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: None
Hyperammonaemia v0.4 OAT Krithika Murali reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: 33068755, 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 NUP93 Krithika Murali reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391; Phenotypes: Nephrotic syndrome, type 12 - MIM#616892; Mode of inheritance: None
Mendeliome v0.12183 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12182 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.462 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12182 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12181 ADRB1 Elena Savva Marked gene: ADRB1 as ready
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12181 ADRB1 Elena Savva Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12182 ADRB1 Elena Savva Publications for gene: ADRB1 were set to
Mendeliome v0.12181 ADRB1 Elena Savva Classified gene: ADRB1 as Red List (low evidence)
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12180 ADRB1 Elena Savva reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12180 NTN1 Zornitza Stark Marked gene: NTN1 as ready
Mendeliome v0.12180 NTN1 Zornitza Stark Gene: ntn1 has been classified as Green List (High Evidence).
Mendeliome v0.12180 NTN1 Zornitza Stark Phenotypes for gene: NTN1 were changed from to Mirror movements 4 MIM#618264
Mendeliome v0.12179 NTN1 Zornitza Stark Publications for gene: NTN1 were set to
Mendeliome v0.12178 NTN1 Zornitza Stark Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12177 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Mendeliome v0.12177 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Mendeliome v0.12177 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
Mendeliome v0.12176 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Mendeliome v0.12175 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12174 NRCAM Zornitza Stark Marked gene: NRCAM as ready
Mendeliome v0.12174 NRCAM Zornitza Stark Gene: nrcam has been classified as Green List (High Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Marked gene: NR4A3 as ready
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Classified gene: NR4A3 as Red List (low evidence)
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Mendeliome v0.12173 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Mendeliome v0.12172 NKX2-5 Zornitza Stark reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12172 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)
Mendeliome v0.12171 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to
Mendeliome v0.12170 NKX2-5 Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12169 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Mendeliome v0.12169 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Mendeliome v0.12169 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Mendeliome v0.12168 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Mendeliome v0.12167 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mendeliome v0.12165 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mendeliome v0.12164 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12163 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mendeliome v0.12163 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mendeliome v0.12163 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Mendeliome v0.12162 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mendeliome v0.12161 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12160 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mendeliome v0.12160 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mendeliome v0.12160 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Mendeliome v0.12159 ADH1B Elena Savva Phenotypes for gene: ADH1B were changed from to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780
Mendeliome v0.12159 ADH1B Elena Savva Mode of pathogenicity for gene: ADH1B was changed from to None
Mendeliome v0.12158 ADH1B Elena Savva Classified gene: ADH1B as Red List (low evidence)
Mendeliome v0.12158 ADH1B Elena Savva Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12157 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mendeliome v0.12156 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12155 ADH1B Elena Savva reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark changed review comment from: Multiple affected individuals reported; DD/ID is variable but present in most.; to: Multiple affected individuals reported; seizures are part of the phenotype.
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Genetic Epilepsy v0.1530 CACNA2D2 Zornitza Stark Publications for gene: CACNA2D2 were set to
Genetic Epilepsy v0.1529 CACNA2D2 Zornitza Stark Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12155 ADGRV1 Elena Savva Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Genetic Epilepsy v0.1528 CACNA2D2 Zornitza Stark reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12154 CACNA1F Zornitza Stark Tag SV/CNV tag was added to gene: CACNA1F.
Mendeliome v0.12154 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Mendeliome v0.12153 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12152 CA2 Zornitza Stark Deleted their comment
Mitochondrial disease v0.755 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mitochondrial disease v0.755 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mitochondrial disease v0.755 NUBPL Zornitza Stark Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544
Mendeliome v0.12152 CASP8 Ain Roesley changed review comment from: Boderline red/amber

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.; to: Borderline red/amber

1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)

Mice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells.
Mendeliome v0.12152 CASP8 Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: utoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12152 ADGRV1 Elena Savva Mode of pathogenicity for gene: ADGRV1 was changed from to None
Mendeliome v0.12152 ADGRV1 Elena Savva Phenotypes for gene: ADGRV1 were changed from to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Mendeliome v0.12151 ADGRV1 Elena Savva Marked gene: ADGRV1 as ready
Mendeliome v0.12151 ADGRV1 Elena Savva Gene: adgrv1 has been classified as Green List (High Evidence).
Mendeliome v0.12151 ADGRV1 Elena Savva Mode of inheritance for gene: ADGRV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12150 ADGRV1 Elena Savva reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Febrile seizures, familial, 4 MIM#604352, Usher syndrome, type 2C MIM#60547, Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12150 CASP8 Ain Roesley Deleted their review
Mendeliome v0.12150 CASP8 Ain Roesley Deleted their comment
Mendeliome v0.12150 CASP8 Ain Roesley reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 33356695; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12150 ADCY3 Elena Savva reviewed gene: ADCY3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11055432, 29311636, 29311637; Phenotypes: {Obesity, susceptibility to, BMIQ19} MIM#617885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.754 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Mitochondrial disease v0.753 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Callosome v0.431 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Callosome v0.431 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Callosome v0.431 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Callosome v0.430 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mendeliome v0.12150 CASP10 Ain Roesley Phenotypes for gene: CASP10 were changed from Autoimmune lymphoproliferative syndrome, type II MIM#603909 to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Callosome v0.429 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12149 CASP10 Ain Roesley Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Mendeliome v0.12149 CASP10 Ain Roesley Marked gene: CASP10 as ready
Mendeliome v0.12149 CASP10 Ain Roesley Gene: casp10 has been classified as Green List (High Evidence).
Mendeliome v0.12149 CASP10 Ain Roesley Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.752 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12149 CASP10 Ain Roesley Publications for gene: CASP10 were set to
Mendeliome v0.12148 CASP10 Ain Roesley reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Regression v0.462 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Regression v0.462 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mendeliome v0.12148 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mendeliome v0.12148 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Regression v0.462 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242 to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Regression v0.462 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Mendeliome v0.12148 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Regression v0.461 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mendeliome v0.12147 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Intellectual disability syndromic and non-syndromic v0.4633 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mendeliome v0.12146 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.460 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4632 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1528 LGI1 Zornitza Stark Marked gene: LGI1 as ready
Genetic Epilepsy v0.1528 LGI1 Zornitza Stark Gene: lgi1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1528 LGI1 Zornitza Stark Phenotypes for gene: LGI1 were changed from to Epilepsy, familial temporal lobe, 1, MIM# 6000512
Genetic Epilepsy v0.1527 LGI1 Zornitza Stark Publications for gene: LGI1 were set to
Genetic Epilepsy v0.1526 LGI1 Zornitza Stark Mode of inheritance for gene: LGI1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1526 LGI1 Zornitza Stark Mode of inheritance for gene: LGI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1525 LGI1 Zornitza Stark reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711109, 12205652, 15079010, 22496201; Phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12145 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Mendeliome v0.12145 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Mendeliome v0.12145 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from to Insensitivity to pain, congenital, with anhidrosis - MIM#256800
Mendeliome v0.12144 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Mendeliome v0.12143 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4631 NTRK1 Zornitza Stark Marked gene: NTRK1 as ready
Intellectual disability syndromic and non-syndromic v0.4631 NTRK1 Zornitza Stark Gene: ntrk1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4631 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from to Insensitivity to pain, congenital, with anhidrosis - MIM#256800
Intellectual disability syndromic and non-syndromic v0.4630 NTRK1 Zornitza Stark Publications for gene: NTRK1 were set to
Intellectual disability syndromic and non-syndromic v0.4629 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4628 NTRK1 Zornitza Stark Mode of inheritance for gene: NTRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12142 NTF4 Zornitza Stark Marked gene: NTF4 as ready
Mendeliome v0.12142 NTF4 Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12142 NTF4 Zornitza Stark Phenotypes for gene: NTF4 were changed from to Glaucoma 1, open angle, 1O - MIIM#613100
Mendeliome v0.12141 NTF4 Zornitza Stark Publications for gene: NTF4 were set to
Mendeliome v0.12140 NTF4 Zornitza Stark Mode of inheritance for gene: NTF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12139 CASK Ain Roesley Phenotypes for gene: CASK were changed from FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422 to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Mendeliome v0.12139 NTF4 Zornitza Stark Classified gene: NTF4 as Red List (low evidence)
Mendeliome v0.12139 NTF4 Zornitza Stark Gene: ntf4 has been classified as Red List (Low Evidence).
Mendeliome v0.12138 CASK Ain Roesley Phenotypes for gene: CASK were changed from to FG syndrome 4 MIM#300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749; Mental retardation, with or without nystagmus MIM#300422
Mendeliome v0.12137 CASK Ain Roesley Marked gene: CASK as ready
Mendeliome v0.12137 CASK Ain Roesley Gene: cask has been classified as Green List (High Evidence).
Mendeliome v0.12137 CASK Ain Roesley Marked gene: CASK as ready
Mendeliome v0.12137 CASK Ain Roesley Gene: cask has been classified as Green List (High Evidence).
Mendeliome v0.12137 CASK Ain Roesley Publications for gene: CASK were set to
Mendeliome v0.12136 CASK Ain Roesley Mode of inheritance for gene: CASK was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.12135 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Mendeliome v0.12135 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
Mendeliome v0.12135 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from to Mental retardation, autosomal recessive 5 - MIM#611091
Mendeliome v0.12134 CASK Ain Roesley reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24278995; Phenotypes: FG syndrome 4 MIM#300422, Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749, Mental retardation, with or without nystagmus MIM#300422; 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
Mendeliome v0.12134 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Mendeliome v0.12133 NSUN2 Zornitza Stark Mode of inheritance for gene: NSUN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12132 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731, 22577224, 35126837; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4627 NSUN2 Zornitza Stark Marked gene: NSUN2 as ready
Intellectual disability syndromic and non-syndromic v0.4627 NSUN2 Zornitza Stark Gene: nsun2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4627 NSUN2 Zornitza Stark Phenotypes for gene: NSUN2 were changed from to Mental retardation, autosomal recessive 5 - MIM#611091
Intellectual disability syndromic and non-syndromic v0.4626 NSUN2 Zornitza Stark Publications for gene: NSUN2 were set to
Intellectual disability syndromic and non-syndromic v0.4625 NSUN2 Zornitza Stark Mode of inheritance for gene: NSUN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4624 NSUN2 Zornitza Stark reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35126837; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12132 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Mendeliome v0.12132 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Mendeliome v0.12132 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Mendeliome v0.12131 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Mendeliome v0.12130 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Autism v0.183 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Autism v0.183 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Mendeliome v0.12129 CARD11 Ain Roesley Phenotypes for gene: CARD11 were changed from Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Autism v0.183 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Mendeliome v0.12128 CARD11 Ain Roesley Phenotypes for gene: CARD11 were changed from to Immunodeficiency 11A, autosomal recessive, MIM# 615206; Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638
Mendeliome v0.12128 CARD11 Ain Roesley Marked gene: CARD11 as ready
Mendeliome v0.12128 CARD11 Ain Roesley Gene: card11 has been classified as Green List (High Evidence).
Mendeliome v0.12128 CARD11 Ain Roesley Publications for gene: CARD11 were set to
Autism v0.182 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Mendeliome v0.12128 CARD11 Ain Roesley Mode of inheritance for gene: CARD11 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Autism v0.181 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Ataxia v0.332 CACNA2D2 Ain Roesley Marked gene: CACNA2D2 as ready
Ataxia v0.332 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Mendeliome v0.12127 CARD11 Ain Roesley reviewed gene: CARD11: Rating: GREEN; Mode of pathogenicity: None; Publications: 23561803, 12818158, 23374270, 28628108; Phenotypes: Immunodeficiency 11A, autosomal recessive, MIM# 615206, Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1525 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from Pitt-Hopkins-like syndrome 2 - MIM#614325 to Pitt-Hopkins-like syndrome 2 - MIM#614325
Genetic Epilepsy v0.1525 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Genetic Epilepsy v0.1525 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1525 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Mendeliome v0.12127 CALM3 Ain Roesley Marked gene: CALM3 as ready
Mendeliome v0.12127 CALM3 Ain Roesley Gene: calm3 has been classified as Green List (High Evidence).
Mendeliome v0.12127 CALM3 Ain Roesley Phenotypes for gene: CALM3 were changed from to Long QT syndrome 16 MIM#618782; CPVT
Mendeliome v0.12127 CALM3 Ain Roesley Publications for gene: CALM3 were set to
Mendeliome v0.12127 CALM3 Ain Roesley Mode of inheritance for gene: CALM3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1524 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Mendeliome v0.12126 CALM3 Ain Roesley reviewed gene: CALM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 16 MIM#618782, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Genetic Epilepsy v0.1523 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1522 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12126 CALM2 Ain Roesley Marked gene: CALM2 as ready
Mendeliome v0.12126 CALM2 Ain Roesley Gene: calm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4624 NRXN1 Zornitza Stark Marked gene: NRXN1 as ready
Intellectual disability syndromic and non-syndromic v0.4624 NRXN1 Zornitza Stark Gene: nrxn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4624 NRXN1 Zornitza Stark Phenotypes for gene: NRXN1 were changed from to Pitt-Hopkins-like syndrome 2 - MIM#614325
Intellectual disability syndromic and non-syndromic v0.4623 NRXN1 Zornitza Stark Publications for gene: NRXN1 were set to
Intellectual disability syndromic and non-syndromic v0.4622 NRXN1 Zornitza Stark Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteopetrosis v0.16 LEMD3 Zornitza Stark Phenotypes for gene: LEMD3 were changed from Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700 to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Osteopetrosis v0.16 LEMD3 Zornitza Stark Marked gene: LEMD3 as ready
Osteopetrosis v0.16 LEMD3 Zornitza Stark Gene: lemd3 has been classified as Green List (High Evidence).
Osteopetrosis v0.16 LEMD3 Zornitza Stark Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Mendeliome v0.12126 CALM2 Ain Roesley Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 MIM#616249; CPVT
Mendeliome v0.12125 CALM2 Ain Roesley Publications for gene: CALM2 were set to
Mendeliome v0.12125 CALM2 Ain Roesley Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12124 CALM2 Ain Roesley reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Osteopetrosis v0.15 LEMD3 Zornitza Stark Publications for gene: LEMD3 were set to
Osteopetrosis v0.14 LEMD3 Zornitza Stark Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis v0.13 LEMD3 Zornitza Stark reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Catecholaminergic Polymorphic Ventricular Tachycardia v0.32 CALM2 Ain Roesley Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12124 CALM1 Ain Roesley Marked gene: CALM1 as ready
Mendeliome v0.12124 CALM1 Ain Roesley Gene: calm1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Marked gene: SLC17A5 as ready
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Gene: slc17a5 has been classified as Green List (High Evidence).
Hydrops fetalis v0.241 SLC17A5 Zornitza Stark Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, MIM# 269920
Mendeliome v0.12124 CALM1 Ain Roesley Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 MIM#616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916
Mendeliome v0.12123 CALM1 Ain Roesley Publications for gene: CALM1 were set to
Mendeliome v0.12123 CALM1 Ain Roesley Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.240 SLC17A5 Zornitza Stark Publications for gene: SLC17A5 were set to
Mendeliome v0.12122 CALM1 Ain Roesley reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31170290; Phenotypes: Long QT syndrome 14 MIM#616247, Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hydrops fetalis v0.239 SLC17A5 Zornitza Stark Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12122 NRL Zornitza Stark Marked gene: NRL as ready
Mendeliome v0.12122 NRL Zornitza Stark Gene: nrl has been classified as Green List (High Evidence).
Mendeliome v0.12122 NRL Zornitza Stark Phenotypes for gene: NRL were changed from to Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type
Mendeliome v0.12121 NRL Zornitza Stark Publications for gene: NRL were set to
Mendeliome v0.12120 NRL Zornitza Stark Mode of inheritance for gene: NRL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12119 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Phenotypes for gene: CACNA2D4 were changed from to Retinal cone dystrophy 4 MIM#610478
Mendeliome v0.12118 CACNA2D4 Ain Roesley Marked gene: CACNA2D4 as ready
Mendeliome v0.12118 CACNA2D4 Ain Roesley Gene: cacna2d4 has been classified as Green List (High Evidence).
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Marked gene: LDLRAP1 as ready
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Gene: ldlrap1 has been classified as Green List (High Evidence).
Dyslipidaemia v0.26 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813
Mendeliome v0.12118 CACNA2D4 Ain Roesley Publications for gene: CACNA2D4 were set to
Mendeliome v0.12118 CACNA2D4 Ain Roesley Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dyslipidaemia v0.25 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia
Dyslipidaemia v0.24 LDLRAP1 Zornitza Stark Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia to HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia
Mendeliome v0.12117 CACNA2D4 Ain Roesley reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Dyslipidaemia v0.23 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Dyslipidaemia v0.22 LDLRAP1 Zornitza Stark reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.22 LDLRAP1 Zornitza Stark Publications for gene: LDLRAP1 were set to
Familial hypercholesterolaemia v0.21 LDLRAP1 Zornitza Stark reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Tag for review tag was added to gene: LDHB.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Classified gene: LDHB as Green List (high evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.108 LDHB Zornitza Stark Gene: ldhb has been classified as Green List (High Evidence).
Mendeliome v0.12117 NR2F2 Zornitza Stark Marked gene: NR2F2 as ready
Mendeliome v0.12117 NR2F2 Zornitza Stark Gene: nr2f2 has been classified as Green List (High Evidence).
Mendeliome v0.12117 NR2F2 Zornitza Stark Phenotypes for gene: NR2F2 were changed from to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779
Mendeliome v0.12116 NR2F2 Zornitza Stark Publications for gene: NR2F2 were set to
Peroxisomal Disorders v0.27 SCP2 Zornitza Stark Marked gene: SCP2 as ready
Peroxisomal Disorders v0.27 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.27 SCP2 Zornitza Stark Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Mitochondrial disease v0.751 TUFM Zornitza Stark Marked gene: TUFM as ready
Mitochondrial disease v0.751 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Mendeliome v0.12115 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Mendeliome v0.12115 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Mendeliome v0.12115 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Ataxia v0.332 CACNA2D2 Ain Roesley Classified gene: CACNA2D2 as Green List (high evidence)
Ataxia v0.332 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Ataxia v0.331 CACNA2D2 Ain Roesley gene: CACNA2D2 was added
gene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629
Phenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Review for gene: CACNA2D2 was set to GREEN
gene: CACNA2D2 was marked as current diagnostic
Added comment: 4 out of 6 families reported individuals <1 years old with ataxia
Sources: Literature
Mendeliome v0.12114 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Peroxisomal Disorders v0.26 SCP2 Zornitza Stark Publications for gene: SCP2 were set to
Mendeliome v0.12113 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.26 SCP2 Zornitza Stark Mode of inheritance for gene: SCP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.751 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
Mendeliome v0.12112 SEMA3A Zornitza Stark Marked gene: SEMA3A as ready
Mendeliome v0.12112 SEMA3A Zornitza Stark Gene: sema3a has been classified as Green List (High Evidence).
Mendeliome v0.12112 SEMA3A Zornitza Stark Phenotypes for gene: SEMA3A were changed from to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature
Mendeliome v0.12111 SEMA3A Zornitza Stark Publications for gene: SEMA3A were set to
Mendeliome v0.12110 SEMA3A Zornitza Stark Mode of inheritance for gene: SEMA3A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Peroxisomal Disorders v0.25 SCP2 Zornitza Stark Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.251 SCP2 Zornitza Stark Marked gene: SCP2 as ready
Leukodystrophy v0.251 SCP2 Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
Leukodystrophy v0.251 SCP2 Zornitza Stark Publications for gene: SCP2 were set to
Leukodystrophy v0.250 SCP2 Zornitza Stark Classified gene: SCP2 as Red List (low evidence)
Leukodystrophy v0.250 SCP2 Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
Leukodystrophy v0.249 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None
Mitochondrial disease v0.750 TUFM Zornitza Stark Publications for gene: TUFM were set to
Peroxisomal Disorders v0.24 SCP2 Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
Peroxisomal Disorders v0.24 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Peroxisomal Disorders v0.23 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1521 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Genetic Epilepsy v0.1521 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Mendeliome v0.12109 SCP2 Zornitza Stark Marked gene: SCP2 as ready
Mendeliome v0.12109 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12109 SCP2 Zornitza Stark Publications for gene: SCP2 were set to 16685654
Mendeliome v0.12108 SCP2 Zornitza Stark Classified gene: SCP2 as Amber List (moderate evidence)
Mendeliome v0.12108 SCP2 Zornitza Stark Gene: scp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12107 SCP2 Zornitza Stark reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12107 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Genetic Epilepsy v0.1521 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Mendeliome v0.12106 SCP2 Zornitza Stark Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724
Mendeliome v0.12105 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12105 CACNA2D2 Ain Roesley Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424
Mendeliome v0.12104 SCP2 Zornitza Stark Publications for gene: SCP2 were set to
Mendeliome v0.12104 CACNA2D2 Ain Roesley Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12103 CACNA2D2 Ain Roesley Publications for gene: CACNA2D2 were set to
Mendeliome v0.12103 CACNA2D2 Ain Roesley Marked gene: CACNA2D2 as ready
Mendeliome v0.12103 CACNA2D2 Ain Roesley Gene: cacna2d2 has been classified as Green List (High Evidence).
Mendeliome v0.12103 SCP2 Zornitza Stark Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12102 SCP2 Zornitza Stark Classified gene: SCP2 as Red List (low evidence)
Mendeliome v0.12102 SCP2 Zornitza Stark Gene: scp2 has been classified as Red List (Low Evidence).
Mendeliome v0.12101 CACNA2D2 Ain Roesley edited their review of gene: CACNA2D2: Changed publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Changed phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Mendeliome v0.12101 CACNA2D2 Ain Roesley Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12100 CACNA2D2 Ain Roesley reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Phenotypes: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Genetic Epilepsy v0.1520 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Mendeliome v0.12100 CACNA1F Ain Roesley Mode of inheritance for gene: CACNA1F was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12099 CACNA1F Ain Roesley Marked gene: CACNA1F as ready
Mendeliome v0.12099 CACNA1F Ain Roesley Gene: cacna1f has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1520 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Mendeliome v0.12099 TUBB1 Zornitza Stark Marked gene: TUBB1 as ready
Mendeliome v0.12099 TUBB1 Zornitza Stark Gene: tubb1 has been classified as Green List (High Evidence).
Mendeliome v0.12099 CACNA1F Ain Roesley Phenotypes for gene: CACNA1F were changed from to Aland Island eye disease MIM#300600; Cone-rod dystrophy, X-linked, 3 MIM#300476; Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071
Mendeliome v0.12099 CACNA1F Ain Roesley Publications for gene: CACNA1F were set to
Mendeliome v0.12099 TUBB1 Zornitza Stark Phenotypes for gene: TUBB1 were changed from to Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112; MONDO:0013141
Mendeliome v0.12099 CACNA1F Ain Roesley Mode of inheritance for gene: CACNA1F was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12098 TUBB1 Zornitza Stark Publications for gene: TUBB1 were set to
Mendeliome v0.12097 CACNA1F Ain Roesley reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: None; Publications: 17525176, 16505158, 23776498, 24124559, 26075273, 25999675; Phenotypes: Aland Island eye disease MIM#300600, Cone-rod dystrophy, X-linked, 3 MIM#300476, Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Genetic Epilepsy v0.1519 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Mendeliome v0.12097 TUBB1 Zornitza Stark Mode of inheritance for gene: TUBB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12096 TUBB1 Zornitza Stark reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1518 SCARB2 Zornitza Stark Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12096 SCARB2 Zornitza Stark Marked gene: SCARB2 as ready
Mendeliome v0.12096 SCARB2 Zornitza Stark Gene: scarb2 has been classified as Green List (High Evidence).
Mendeliome v0.12096 SCARB2 Zornitza Stark Phenotypes for gene: SCARB2 were changed from to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900
Genetic Epilepsy v0.1517 SCARB2 Zornitza Stark reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12095 SCARB2 Zornitza Stark Publications for gene: SCARB2 were set to
Mendeliome v0.12094 SCARB2 Zornitza Stark Mode of inheritance for gene: SCARB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12093 SASH1 Zornitza Stark Marked gene: SASH1 as ready
Mendeliome v0.12093 SASH1 Zornitza Stark Gene: sash1 has been classified as Green List (High Evidence).
Mendeliome v0.12093 SASH1 Zornitza Stark Phenotypes for gene: SASH1 were changed from to Dyschromatosis universalis hereditaria 1, MIM #127500; familial generalized lentiginosis MONDO:007891
Mendeliome v0.12092 SASH1 Zornitza Stark Publications for gene: SASH1 were set to
Mendeliome v0.12091 SASH1 Zornitza Stark Mode of inheritance for gene: SASH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12090 SASH1 Zornitza Stark reviewed gene: SASH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM# 127500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12090 CABP2 Ain Roesley Marked gene: CABP2 as ready
Mendeliome v0.12090 CABP2 Ain Roesley Gene: cabp2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.749 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12090 TUBB4B Zornitza Stark Marked gene: TUBB4B as ready
Mendeliome v0.12090 TUBB4B Zornitza Stark Gene: tubb4b has been classified as Green List (High Evidence).
Mendeliome v0.12090 CABP2 Ain Roesley Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899
Mendeliome v0.12090 CABP2 Ain Roesley Publications for gene: CABP2 were set to
Mendeliome v0.12090 TUBB4B Zornitza Stark Phenotypes for gene: TUBB4B were changed from to Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879; MONDO:0060650
Mendeliome v0.12090 CABP2 Ain Roesley Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12089 CABP2 Ain Roesley reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12089 TUBB4B Zornitza Stark Publications for gene: TUBB4B were set to
Mendeliome v0.12088 TUBB4B Zornitza Stark reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: 35240325; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12088 CA2 Ain Roesley Publications for gene: CA2 were set to 34624559; 33555497; 12566520; 7627193
Mendeliome v0.12087 TUBB4B Zornitza Stark Mode of inheritance for gene: TUBB4B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.748 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12086 TUFM Zornitza Stark Marked gene: TUFM as ready
Mendeliome v0.12086 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Mitochondrial disease v0.747 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893, 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12086 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
Mendeliome v0.12085 TUFM Zornitza Stark Publications for gene: TUFM were set to
Mendeliome v0.12084 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12084 CA2 Ain Roesley Publications for gene: CA2 were set to
Mendeliome v0.12083 CA2 Ain Roesley Marked gene: CA2 as ready
Mendeliome v0.12083 CA2 Ain Roesley Gene: ca2 has been classified as Green List (High Evidence).
Mendeliome v0.12083 CA2 Ain Roesley reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12083 NR2F2 Zornitza Stark Mode of inheritance for gene: NR2F2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12082 CA12 Ain Roesley Marked gene: CA12 as ready
Mendeliome v0.12082 CA12 Ain Roesley Gene: ca12 has been classified as Green List (High Evidence).
Mendeliome v0.12082 CA12 Ain Roesley Phenotypes for gene: CA12 were changed from to Hyperchlorhidrosis, isolated MIM#143860
Mendeliome v0.12081 CA12 Ain Roesley Publications for gene: CA12 were set to
Mendeliome v0.12081 CA12 Ain Roesley Mode of inheritance for gene: CA12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12080 NR2E3 Zornitza Stark Marked gene: NR2E3 as ready
Mendeliome v0.12080 NR2E3 Zornitza Stark Gene: nr2e3 has been classified as Green List (High Evidence).
Mendeliome v0.12080 CA12 Ain Roesley reviewed gene: CA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21035102, 21184099, 26911677; Phenotypes: Hyperchlorhidrosis, isolated MIM#143860; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12080 NR2E3 Zornitza Stark Phenotypes for gene: NR2E3 were changed from to Retinitis pigmentosa 37 - MIM#611131; Enhanced S-cone syndrome - MIM#268100; Goldmann-Favre syndrome - MONDO#0100289; retinal dystrophy
Mendeliome v0.12079 NR2E3 Zornitza Stark Publications for gene: NR2E3 were set to
Mendeliome v0.12078 NR2E3 Zornitza Stark Mode of inheritance for gene: NR2E3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12077 NR0B2 Zornitza Stark Marked gene: NR0B2 as ready
Mendeliome v0.12077 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Mendeliome v0.12077 NR0B2 Zornitza Stark Mode of inheritance for gene: NR0B2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12076 NR0B2 Zornitza Stark Phenotypes for gene: NR0B2 were changed from to Obesity, mild, early-onset, MIM# 601665
Mendeliome v0.12075 NR0B2 Zornitza Stark Classified gene: NR0B2 as Red List (low evidence)
Mendeliome v0.12075 NR0B2 Zornitza Stark Gene: nr0b2 has been classified as Red List (Low Evidence).
Mendeliome v0.12074 NPSR1 Zornitza Stark Marked gene: NPSR1 as ready
Mendeliome v0.12074 NPSR1 Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
Mendeliome v0.12074 NPSR1 Zornitza Stark Phenotypes for gene: NPSR1 were changed from to {Asthma, susceptibility to, 2} 608584
Mendeliome v0.12073 NPSR1 Zornitza Stark Mode of inheritance for gene: NPSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12072 NPSR1 Zornitza Stark Classified gene: NPSR1 as Red List (low evidence)
Mendeliome v0.12072 NPSR1 Zornitza Stark Gene: npsr1 has been classified as Red List (Low Evidence).
Regression v0.459 ACER3 Zornitza Stark Marked gene: ACER3 as ready
Regression v0.459 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Regression v0.459 ACER3 Zornitza Stark Classified gene: ACER3 as Green List (high evidence)
Regression v0.459 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Regression v0.458 ACER3 Zornitza Stark gene: ACER3 was added
gene: ACER3 was added to Regression. Sources: Expert Review
Mode of inheritance for gene: ACER3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACER3 were set to 32816236; 26792856; 34281620
Phenotypes for gene: ACER3 were set to Leukodystrophy, progressive, early childhood-onset, MIM:617762
Review for gene: ACER3 was set to GREEN
Added comment: Five unrelated families reported, including clinical presentations with regression following a period of normal development.
Sources: Expert Review
Genetic Epilepsy v0.1517 LIAS Alison Yeung Phenotypes for gene: LIAS were changed from Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
Genetic Epilepsy v0.1517 LIAS Alison Yeung Marked gene: LIAS as ready
Genetic Epilepsy v0.1517 LIAS Alison Yeung Gene: lias has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1517 LIAS Alison Yeung Phenotypes for gene: LIAS were changed from Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462 to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
Mendeliome v0.12071 ACER3 Zornitza Stark edited their review of gene: ACER3: Added comment: Additional publication (Dehvani et al., 2021; PMID: 34281620) detailing three further unrelated cases, each with novel homozygous variants in the ACER3 gene. All individuals displayed features of progressive leukoencephalopathy, developmental delay, hypotonia, appendicular spasticity, and dystonia. Early development is apparently normal followed by symptoms of stagnation and neurologic regression (onset within first year of life).; Changed rating: GREEN; Changed publications: 32816236, 26792856, 34281620; Changed phenotypes: Leukodystrophy, progressive, early childhood-onset, MIM:617762
Genetic Epilepsy v0.1517 LIAS Alison Yeung Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
Genetic Epilepsy v0.1516 LIAS Alison Yeung Publications for gene: LIAS were set to 22152680; 24334290; 26108146
Genetic Epilepsy v0.1516 LIAS Alison Yeung Mode of inheritance for gene: LIAS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1515 LIAS Alison Yeung Publications for gene: LIAS were set to
Genetic Epilepsy v0.1515 LIAS Alison Yeung Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy v0.249 ACER3 Zornitza Stark Phenotypes for gene: ACER3 were changed from Leukodystrophy to Leukodystrophy, progressive, early childhood-onset, OMIM:617762
Leukodystrophy v0.248 ACER3 Zornitza Stark Publications for gene: ACER3 were set to 32816236; 26792856
Leukodystrophy v0.247 ACER3 Zornitza Stark Classified gene: ACER3 as Green List (high evidence)
Leukodystrophy v0.247 ACER3 Zornitza Stark Gene: acer3 has been classified as Green List (High Evidence).
Mendeliome v0.12071 LIAS Alison Yeung Marked gene: LIAS as ready
Mendeliome v0.12071 LIAS Alison Yeung Gene: lias has been classified as Green List (High Evidence).
Mendeliome v0.12071 LIAS Alison Yeung Phenotypes for gene: LIAS were changed from to Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462
Mendeliome v0.12070 LIAS Alison Yeung Publications for gene: LIAS were set to
Mendeliome v0.12069 LIAS Alison Yeung Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12068 LIAS Alison Yeung reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 22152680, 24334290, 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, MIM# 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12068 LHX4 Alison Yeung Phenotypes for gene: LHX4 were changed from to Pituitary hormone deficiency, combined, 4, MIM# 262700
Mendeliome v0.12067 LHX4 Alison Yeung Marked gene: LHX4 as ready
Mendeliome v0.12067 LHX4 Alison Yeung Gene: lhx4 has been classified as Green List (High Evidence).
Mendeliome v0.12067 LHX4 Alison Yeung Mode of inheritance for gene: LHX4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12066 LHX4 Alison Yeung reviewed gene: LHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 4, MIM# 262700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Callosome v0.428 LHX3 Alison Yeung Marked gene: LHX3 as ready
Callosome v0.428 LHX3 Alison Yeung Added comment: Comment when marking as ready: Gene not associated with absence of corpus callosum.
Callosome v0.428 LHX3 Alison Yeung Gene: lhx3 has been classified as Red List (Low Evidence).
Callosome v0.428 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, MIM# 221750 to Pituitary hormone deficiency, combined, 3, MIM# 221750
Mendeliome v0.12066 SERAC1 Samantha Ayres reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29205472, 32684373, 24741715; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.427 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.427 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Callosome v0.426 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.426 LHX3 Alison Yeung Classified gene: LHX3 as Red List (low evidence)
Callosome v0.426 LHX3 Alison Yeung Gene: lhx3 has been classified as Red List (Low Evidence).
Callosome v0.425 LHX3 Alison Yeung reviewed gene: LHX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12066 SEMA3A Samantha Ayres reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 28075028, 33369061, 20301509, 21059704, 24124006, 22927827; Phenotypes: Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897, congenital heart disease, short stature; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12066 LHX3 Alison Yeung Marked gene: LHX3 as ready
Mendeliome v0.12066 LHX3 Alison Yeung Gene: lhx3 has been classified as Green List (High Evidence).
Mendeliome v0.12066 LHX3 Alison Yeung Phenotypes for gene: LHX3 were changed from to Pituitary hormone deficiency, combined, 3, MIM# 221750
Mendeliome v0.12065 LHX3 Alison Yeung Mode of inheritance for gene: LHX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12064 LHX3 Alison Yeung reviewed gene: LHX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pituitary hormone deficiency, combined, 3, MIM# 221750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Marked gene: LHB as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Gene: lhb has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.293 LHB Alison Yeung Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.292 LHB Alison Yeung Mode of inheritance for gene: LHB was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.291 LHB Alison Yeung reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12064 LHB Alison Yeung Marked gene: LHB as ready
Mendeliome v0.12064 LHB Alison Yeung Gene: lhb has been classified as Green List (High Evidence).
Mendeliome v0.12064 LHB Alison Yeung Phenotypes for gene: LHB were changed from to Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300
Mendeliome v0.12063 LHB Alison Yeung Mode of inheritance for gene: LHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 LHB Alison Yeung reviewed gene: LHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypogonadotropic hypogonadism 23 with or without anosmia, MIM# 228300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Leukodystrophy v0.246 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Peroxisomal Disorders v0.23 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Mendeliome v0.12062 SCP2 Samantha Ayres changed review comment from: Just one case reported in the literature in 2006; to: Just one case reported in the literature in 2006
Mendeliome v0.12062 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Neurodegeneration with brain iron accumulation v0.5 SCP2 Samantha Ayres reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 16685654; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: Unknown
Mendeliome v0.12062 TUBB1 Manny Jacobs reviewed gene: TUBB1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32757236, PMID: 31565851, PMID: 29333906, PMID: 18849486; Phenotypes: Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM #613112, MONDO:0013141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12062 SCARB2 Samantha Ayres reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18308289, 18424452, 23659519, 19847901, 18022370, 19933215; Phenotypes: Progressive Myoclonus Epilepsy, MONDO:0020074, Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 SASH1 Samantha Ayres reviewed gene: SASH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23333244, 27885802, 32981204; Phenotypes: Dyschromatosis universalis hereditaria 1, MIM #127500, familial generalized lentiginosis MONDO:007891; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12062 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.425 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31917109, 23553477; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.457 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4621 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12062 TUBB4B Manny Jacobs reviewed gene: TUBB4B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29198720; Phenotypes: Leber congenital amaurosis with early onset deafness, LCAEOD, OMIM #617879, MONDO:0060650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12062 LGI1 Alison Yeung Marked gene: LGI1 as ready
Mendeliome v0.12062 LGI1 Alison Yeung Gene: lgi1 has been classified as Green List (High Evidence).
Mendeliome v0.12062 LGI1 Alison Yeung Phenotypes for gene: LGI1 were changed from to Epilepsy, familial temporal lobe, 1, MIM# 6000512
Mendeliome v0.12061 LGI1 Alison Yeung Publications for gene: LGI1 were set to
Mendeliome v0.12060 LGI1 Alison Yeung Mode of inheritance for gene: LGI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12059 NTRK1 Krithika Murali reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4621 NTRK1 Krithika Murali reviewed gene: NTRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10233776, 19250380, 10861667, 10982191, 20301726, 20089052; Phenotypes: Insensitivity to pain, congenital, with anhidrosis - MIM#256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12059 NTF4 Krithika Murali reviewed gene: NTF4: Rating: RED; Mode of pathogenicity: None; Publications: 20806036, 19765683, 22815630; Phenotypes: Glaucoma 1, open angle, 1O - MIIM#613100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4621 NSUN2 Krithika Murali reviewed gene: NSUN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22541559, 22541562, 21063731, 22577224; Phenotypes: Mental retardation, autosomal recessive 5 - MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12059 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Autism v0.180 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1514 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4621 NRXN1 Krithika Murali reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25486015, 19896112, 21964664, 30873608, 35101781, 22337556, 22670139; Phenotypes: Pitt-Hopkins-like syndrome 2 - MIM#614325; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12059 LGI1 Alison Yeung reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18711109, 12205652, 15079010, 22496201; Phenotypes: Epilepsy, familial temporal lobe, 1, MIM# 6000512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12059 LEMD3 Alison Yeung Marked gene: LEMD3 as ready
Mendeliome v0.12059 LEMD3 Alison Yeung Gene: lemd3 has been classified as Green List (High Evidence).
Mendeliome v0.12059 LEMD3 Alison Yeung Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700
Mendeliome v0.12058 LEMD3 Alison Yeung Publications for gene: LEMD3 were set to
Mendeliome v0.12057 LEMD3 Alison Yeung Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.238 SLC17A5 Abhijit Kulkarni reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 34667062, 10546100; Phenotypes: INFANTILE SIALIC ACID STORAGE DISEASE, ISSD (#MIM: 269920); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12056 NRL Krithika Murali reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: None; Publications: 15591106, 29385733, 21981118, 10192380, 9344665; Phenotypes: Retinitis pigmentosa 27 - MIM#613750, Retinal degeneration, autosomal recessive, clumped pigment type; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.21 LDLRAP1 Alison Yeung Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813
Familial hypercholesterolaemia v0.20 LDLRAP1 Alison Yeung Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813 to Hypercholesterolemia, familial, 4, MIM# 603813
Familial hypercholesterolaemia v0.20 LDLRAP1 Alison Yeung Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813
Familial hypercholesterolaemia v0.19 LDLRAP1 Alison Yeung Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Familial hypercholesterolaemia v0.18 LDLRAP1 Alison Yeung Marked gene: LDLRAP1 as ready
Familial hypercholesterolaemia v0.18 LDLRAP1 Alison Yeung Gene: ldlrap1 has been classified as Green List (High Evidence).
Mendeliome v0.12056 LDLRAP1 Alison Yeung Marked gene: LDLRAP1 as ready
Mendeliome v0.12056 LDLRAP1 Alison Yeung Gene: ldlrap1 has been classified as Green List (High Evidence).
Mendeliome v0.12056 LDLRAP1 Alison Yeung Phenotypes for gene: LDLRAP1 were changed from to Hypercholesterolemia, familial, 4, MIM# 603813
Mendeliome v0.12055 LDLRAP1 Alison Yeung Publications for gene: LDLRAP1 were set to
Mendeliome v0.12054 LDLRAP1 Alison Yeung Mode of inheritance for gene: LDLRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12053 LDLRAP1 Alison Yeung reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Marked gene: LDHB as ready
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.107 LDHB Alison Yeung Phenotypes for gene: LDHB were changed from Lactate dehydrogenase-B deficiency, 614128 (3) to Lactate dehydrogenase-B deficiency, MIM# 614128
Mackenzie's Mission_Reproductive Carrier Screening v0.106 LDHB Alison Yeung Publications for gene: LDHB were set to
Mackenzie's Mission_Reproductive Carrier Screening v0.105 LDHB Alison Yeung Classified gene: LDHB as Red List (low evidence)
Mackenzie's Mission_Reproductive Carrier Screening v0.105 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mackenzie's Mission_Reproductive Carrier Screening v0.104 LDHB Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase-B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12053 LDHB Alison Yeung Marked gene: LDHB as ready
Mendeliome v0.12053 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mendeliome v0.12053 LDHB Alison Yeung Phenotypes for gene: LDHB were changed from to Lactate dehydrogenase B deficiency, MIM# 614128
Mendeliome v0.12052 LDHB Alison Yeung Publications for gene: LDHB were set to
Mendeliome v0.12051 LDHB Alison Yeung Mode of inheritance for gene: LDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12050 LDHB Alison Yeung Classified gene: LDHB as Red List (low evidence)
Mendeliome v0.12050 LDHB Alison Yeung Added comment: Comment on list classification: Not associated with clinical disease
Mendeliome v0.12050 LDHB Alison Yeung Gene: ldhb has been classified as Red List (Low Evidence).
Mendeliome v0.12049 TUFM Manny Jacobs reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132884, PMID: 26741492, PMID: 17160893, PMID: 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12049 LDHB Alison Yeung reviewed gene: LDHB: Rating: RED; Mode of pathogenicity: None; Publications: 6383647; Phenotypes: Lactate dehydrogenase B deficiency, MIM# 614128; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12049 LCAT Alison Yeung Marked gene: LCAT as ready
Mendeliome v0.12049 LCAT Alison Yeung Gene: lcat has been classified as Green List (High Evidence).
Mendeliome v0.12049 LCAT Alison Yeung Phenotypes for gene: LCAT were changed from to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120
Mendeliome v0.12048 LCAT Alison Yeung Publications for gene: LCAT were set to
Mendeliome v0.12047 LCAT Alison Yeung Mode of inheritance for gene: LCAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12046 LCAT Alison Yeung reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900, Fish-Eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.12046 LCA5 Alison Yeung Marked gene: LCA5 as ready
Mendeliome v0.12046 LCA5 Alison Yeung Gene: lca5 has been classified as Green List (High Evidence).
Mendeliome v0.12046 LCA5 Alison Yeung Phenotypes for gene: LCA5 were changed from to Leber Congenital Amaurosis 5, MIM# 604537
Mendeliome v0.12045 LCA5 Alison Yeung Publications for gene: LCA5 were set to
Mendeliome v0.12044 LCA5 Alison Yeung Mode of inheritance for gene: LCA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12043 LCA5 Alison Yeung reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17546029; Phenotypes: Leber Congenital Amaurosis 5, MIM# 604537; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.212 NR2F2 Krithika Murali reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12043 NR2F2 Krithika Murali reviewed gene: NR2F2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702954, 29478779, 31687637, 27363585, 29222010, 29663647; Phenotypes: 46,XX sex reversal 5 - MIM#618901, Congenital heart defects, multiple types, 4 - MIM#615779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12043 NR2E3 Krithika Murali reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301590, 30324420, 19718767, 33138239; Phenotypes: Retinitis pigmentosa 37 - MIM#611131, Enhanced S-cone syndrome - MIM#268100, Goldmann-Favre syndrome - MONDO#0100289, retinal dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12043 NR0B2 Krithika Murali reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12043 NPSR1 Krithika Murali reviewed gene: NPSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12043 MSMB Zornitza Stark Marked gene: MSMB as ready
Mendeliome v0.12043 MSMB Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
Mendeliome v0.12043 MSMB Zornitza Stark Phenotypes for gene: MSMB were changed from to {Prostate cancer, hereditary, 13} 611928
Mendeliome v0.12042 MSMB Zornitza Stark Mode of inheritance for gene: MSMB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12041 MSMB Zornitza Stark Classified gene: MSMB as Red List (low evidence)
Mendeliome v0.12041 MSMB Zornitza Stark Gene: msmb has been classified as Red List (Low Evidence).
Mendeliome v0.12040 MSMB Zornitza Stark reviewed gene: MSMB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Prostate cancer, hereditary, 13} 611928; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.212 SON Zornitza Stark Marked gene: SON as ready
Congenital Heart Defect v0.212 SON Zornitza Stark Gene: son has been classified as Green List (High Evidence).
Congenital Heart Defect v0.212 SON Zornitza Stark Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140
Congenital Heart Defect v0.211 SON Zornitza Stark Publications for gene: SON were set to
Congenital Heart Defect v0.210 SON Zornitza Stark Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.209 SON Zornitza Stark reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12040 SON Zornitza Stark Marked gene: SON as ready
Mendeliome v0.12040 SON Zornitza Stark Gene: son has been classified as Green List (High Evidence).
Mendeliome v0.12040 SON Zornitza Stark Phenotypes for gene: SON were changed from to ZTTK syndrome, MIM# 617140
Mendeliome v0.12039 SON Zornitza Stark Publications for gene: SON were set to
Mendeliome v0.12038 SON Zornitza Stark Mode of inheritance for gene: SON was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12037 SON Zornitza Stark reviewed gene: SON: Rating: GREEN; Mode of pathogenicity: None; Publications: 27545680, 27545676, 31005274; Phenotypes: ZTTK syndrome, MIM# 617140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12037 SNX3 Zornitza Stark Marked gene: SNX3 as ready
Mendeliome v0.12037 SNX3 Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
Mendeliome v0.12037 SNX3 Zornitza Stark Classified gene: SNX3 as Red List (low evidence)
Mendeliome v0.12037 SNX3 Zornitza Stark Gene: snx3 has been classified as Red List (Low Evidence).
Mendeliome v0.12036 SNX3 Zornitza Stark reviewed gene: SNX3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12036 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from Coffin-Siris syndrome 5, MIM# 616938 to Coffin-Siris syndrome 5, MIM# 616938; {Meningioma, familial, susceptibility to} 607174
Mendeliome v0.12035 SMARCE1 Zornitza Stark changed review comment from: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.

Accounts for ~2% of Coffin Siris syndrome.; to: Coffin-Siris syndrome is a rare congenital disorder characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit. Other features may also be observed, including congenital heart defects, hypoplasia of the corpus callosum, and poor overall growth with short stature and microcephaly.

Accounts for ~2% of Coffin Siris syndrome.

Germline LoF variants also linked to familial meningioma.
Mendeliome v0.12035 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 23377182, 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Changed phenotypes: Coffin-Siris syndrome 5, MIM# 616938, {Meningioma, familial, susceptibility to} 607174
Mendeliome v0.12035 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to 22426308; 23906836; 23929686; 32732226; 32436246; 32410215; 34205270
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Intellectual disability syndromic and non-syndromic v0.4620 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Intellectual disability syndromic and non-syndromic v0.4619 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4618 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Hypertrichosis syndromes v0.38 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Hypertrichosis syndromes v0.37 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.36 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12034 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Mendeliome v0.12034 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Mendeliome v0.12034 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Mendeliome v0.12033 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Mendeliome v0.12032 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 MAX Zornitza Stark Marked gene: MAX as ready
Mendeliome v0.12031 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Mendeliome v0.12031 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Mendeliome v0.12030 MAX Zornitza Stark Publications for gene: MAX were set to
Mendeliome v0.12029 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Mendeliome v0.12028 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Mendeliome v0.12028 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Mendeliome v0.12027 MAT1A Zornitza Stark Publications for gene: MAT1A were set to
Mendeliome v0.12026 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Intellectual disability syndromic and non-syndromic v0.4617 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Intellectual disability syndromic and non-syndromic v0.4616 SNX14 Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4615 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12025 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Mendeliome v0.12025 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Mendeliome v0.12025 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Mendeliome v0.12024 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Mendeliome v0.12023 SNX14 Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Mendeliome v0.12022 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Mendeliome v0.12022 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Mendeliome v0.12021 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Mendeliome v0.12020 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Mendeliome v0.12019 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Mendeliome v0.12019 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528
Mendeliome v0.12018 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Mendeliome v0.12017 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP29 Zornitza Stark reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Mendeliome v0.12016 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Mendeliome v0.12016 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330
Mendeliome v0.12015 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Mendeliome v0.12014 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAP25 Zornitza Stark reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Mendeliome v0.12013 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12013 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800
Mendeliome v0.12012 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Mendeliome v0.12011 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12010 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Mendeliome v0.12010 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12009 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.179 SMS Zornitza Stark Marked gene: SMS as ready
Clefting disorders v0.179 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Clefting disorders v0.179 SMS Zornitza Stark Phenotypes for gene: SMS were changed from MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Clefting disorders v0.178 SMS Zornitza Stark Publications for gene: SMS were set to
Clefting disorders v0.177 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12009 SMS Zornitza Stark Marked gene: SMS as ready
Mendeliome v0.12009 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Marked gene: SMS as ready
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Intellectual disability syndromic and non-syndromic v0.4614 SMS Zornitza Stark Publications for gene: SMS were set to
Intellectual disability syndromic and non-syndromic v0.4613 SMS Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4612 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12009 SMS Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Mendeliome v0.12008 SMS Zornitza Stark Publications for gene: SMS were set to
Mendeliome v0.12007 SMS Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12006 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4612 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101 , MIM#619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Intellectual disability syndromic and non-syndromic v0.4611 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072
Intellectual disability syndromic and non-syndromic v0.4610 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Genetic Epilepsy v0.1514 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Genetic Epilepsy v0.1513 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to 29365063; 27164704
Genetic Epilepsy v0.1512 GRIN1 Zornitza Stark Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1511 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Added comment: Note also families reported with bi-allelic LoF variants and DEE phenotype, PMIDs 34611970 and 27164704; Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12006 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Mendeliome v0.12005 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Mendeliome v0.12005 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
Mendeliome v0.12004 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Mendeliome v0.12003 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Mendeliome v0.12002 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Mendeliome v0.12002 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)
Mendeliome v0.12001 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Mendeliome v0.12000 ROBO3 Zornitza Stark Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11999 ROBO2 Zornitza Stark Marked gene: ROBO2 as ready
Mendeliome v0.11999 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Mendeliome v0.11999 ROBO2 Zornitza Stark Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Mendeliome v0.11998 ROBO2 Zornitza Stark Publications for gene: ROBO2 were set to
Mendeliome v0.11997 ROBO2 Zornitza Stark Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 ROBO2 Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Mendeliome v0.11996 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Mendeliome v0.11996 RNF216 Zornitza Stark Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Mendeliome v0.11995 RNF216 Zornitza Stark Publications for gene: RNF216 were set to
Mendeliome v0.11994 RNF216 Zornitza Stark Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11993 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Mendeliome v0.11993 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.123 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11993 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v1.122 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804
Mendeliome v0.11992 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
Deafness_IsolatedAndComplex v1.121 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11991 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035
Congenital Heart Defect v0.208 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to
Congenital Heart Defect v0.207 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.206 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11991 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Mendeliome v0.11991 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Mendeliome v0.11991 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846
Mendeliome v0.11990 TFAP2B Zornitza Stark changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA.

Four individuals reported in PMID: 31292255 (Correction in PMID: 31405973) as part of a craniosynostosis cohort: 2 de novo and 2 inherited. There is evidence for reduced penetrance as in one case the variant was inherited from an unaffected parent (affected parent for the other inherited variant).
Mendeliome v0.11990 TFAP2B Zornitza Stark edited their review of gene: TFAP2B: Changed publications: 31292255, 11505339, 15684060, 18752453, 21643846; Changed phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035, Syndromic craniosynostosis
Mendeliome v0.11990 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035 to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035; Syndromic craniosynostosis
Mendeliome v0.11989 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035
Mendeliome v0.11988 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to
Mendeliome v0.11987 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11986 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11986 TERT Zornitza Stark Marked gene: TERT as ready
Mendeliome v0.11986 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Mendeliome v0.11986 TERT Zornitza Stark Phenotypes for gene: TERT were changed from to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Mendeliome v0.11985 TERT Zornitza Stark Publications for gene: TERT were set to
Mendeliome v0.11984 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11983 TERT Zornitza Stark reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: None; Publications: 16247010, 15814878; Phenotypes: Dyskeratosis congenita, MIM# 613989, Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11983 TERC Zornitza Stark Marked gene: TERC as ready
Mendeliome v0.11983 TERC Zornitza Stark Gene: terc has been classified as Green List (High Evidence).
Mendeliome v0.11983 TERC Zornitza Stark Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Mendeliome v0.11982 TERC Zornitza Stark Publications for gene: TERC were set to
Mendeliome v0.11981 TERC Zornitza Stark Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11980 TERC Zornitza Stark reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574891; Phenotypes: Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11980 TEK Zornitza Stark Marked gene: TEK as ready
Mendeliome v0.11980 TEK Zornitza Stark Gene: tek has been classified as Green List (High Evidence).
Mendeliome v0.11980 TEK Zornitza Stark Phenotypes for gene: TEK were changed from to Glaucoma 3, primary congenital, E, MIM# 617272; Venous malformations, multiple cutaneous and mucosal, MIM# 600195
Mendeliome v0.11979 TEK Zornitza Stark Publications for gene: TEK were set to
Mendeliome v0.11978 TEK Zornitza Stark Mode of inheritance for gene: TEK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11977 TEK Zornitza Stark reviewed gene: TEK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27270174, 19888299; Phenotypes: Glaucoma 3, primary congenital, E, MIM# 617272, Venous malformations, multiple cutaneous and mucosal, MIM# 600195; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11977 TEAD1 Zornitza Stark Marked gene: TEAD1 as ready
Mendeliome v0.11977 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11977 TEAD1 Zornitza Stark Phenotypes for gene: TEAD1 were changed from to Sveinsson chorioretinal atrophy, MIM# 108985
Mendeliome v0.11976 TEAD1 Zornitza Stark edited their review of gene: TEAD1: Changed rating: AMBER; Changed publications: 26091538, 15016762, 33864784, 17689488, 30903741
Mendeliome v0.11976 TEAD1 Zornitza Stark Publications for gene: TEAD1 were set to
Mendeliome v0.11975 TEAD1 Zornitza Stark changed review comment from: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals.

The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family.

Functional data supports gene-disease association.; to: Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals.

The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA is also described in patients of non-Icelandic descent. The variant reported in the Icelanding population is (c.1261T>C, p.Tyr421His), another variant at same position c.1261T>A, p.Tyr421Asn also reported in non-Icelandic family.

A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Mendeliome v0.11975 TEAD1 Zornitza Stark Classified gene: TEAD1 as Amber List (moderate evidence)
Mendeliome v0.11975 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11974 TEAD1 Zornitza Stark Mode of inheritance for gene: TEAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11973 TEAD1 Zornitza Stark reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 33864784, 17689488, 30903741; Phenotypes: Sveinsson chorioretinal atrophy, MIM# 108985; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.457 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Regression v0.457 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Regression v0.457 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Regression v0.456 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Regression v0.455 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.454 TDP1 Zornitza Stark Classified gene: TDP1 as Red List (low evidence)
Regression v0.454 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.123 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Regression v0.453 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v0.122 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Hereditary Neuropathy v0.121 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Hereditary Neuropathy v0.121 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v0.120 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11973 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Mendeliome v0.11973 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Mendeliome v0.11972 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Mendeliome v0.11971 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11970 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Mendeliome v0.11970 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11969 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11969 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Mendeliome v0.11969 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Mendeliome v0.11969 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
Mendeliome v0.11968 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Mendeliome v0.11967 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCIRG1 Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Mendeliome v0.11966 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Mendeliome v0.11966 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Mendeliome v0.11965 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Mendeliome v0.11964 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCAP Zornitza Stark Marked gene: TCAP as ready
Mendeliome v0.11963 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Mendeliome v0.11963 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954
Mendeliome v0.11962 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TCAP Zornitza Stark reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Mendeliome v0.11961 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Mendeliome v0.11961 TBX5 Zornitza Stark Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900
Mendeliome v0.11960 TBX5 Zornitza Stark Publications for gene: TBX5 were set to
Mendeliome v0.11959 TBX5 Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11958 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Mendeliome v0.11958 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Mendeliome v0.11958 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363
Mendeliome v0.11957 TBX20 Zornitza Stark Publications for gene: TBX20 were set to
Mendeliome v0.11956 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Intellectual disability syndromic and non-syndromic v0.4609 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Intellectual disability syndromic and non-syndromic v0.4608 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4607 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Mendeliome v0.11954 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Mendeliome v0.11953 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11952 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.13 TBL1XR1 Zornitza Stark Classified gene: TBL1XR1 as Amber List (moderate evidence)
Fetal anomalies v1.13 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Marked gene: TBCK as ready
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Genetic Epilepsy v0.1510 TBCK Zornitza Stark Publications for gene: TBCK were set to
Genetic Epilepsy v0.1509 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1508 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Marked gene: TBCK as ready
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Intellectual disability syndromic and non-syndromic v0.4606 TBCK Zornitza Stark Publications for gene: TBCK were set to
Intellectual disability syndromic and non-syndromic v0.4605 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4604 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11952 TBCK Zornitza Stark Marked gene: TBCK as ready
Mendeliome v0.11952 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Mendeliome v0.11952 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Mendeliome v0.11951 TBCK Zornitza Stark Publications for gene: TBCK were set to
Mendeliome v0.11950 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Intellectual disability syndromic and non-syndromic v0.4603 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Intellectual disability syndromic and non-syndromic v0.4602 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4601 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Mendeliome v0.11949 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Mendeliome v0.11949 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Mendeliome v0.11948 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Mendeliome v0.11947 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11946 TBC1D1 Zornitza Stark Marked gene: TBC1D1 as ready
Mendeliome v0.11946 TBC1D1 Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
Mendeliome v0.11946 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT; Non-syndromic renal or urinary tract malformation, MONDO:0019720
Mendeliome v0.11945 TBC1D1 Zornitza Stark Publications for gene: TBC1D1 were set to
Mendeliome v0.11944 TBC1D1 Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TBC1D1 Zornitza Stark reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26572137; Phenotypes: CAKUT, Non-syndromic renal or urinary tract malformation, MONDO:0019720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TAZ Zornitza Stark Marked gene: TAZ as ready
Mendeliome v0.11943 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Mendeliome v0.11943 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Mendeliome v0.11942 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAT Zornitza Stark Phenotypes for gene: TAT were changed from Tyrosinemia, type II, MIM# 276600 to Tyrosinaemia, type II, MIM# 276600
Mendeliome v0.11940 TAT Zornitza Stark Marked gene: TAT as ready
Mendeliome v0.11940 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Mendeliome v0.11940 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II, MIM# 276600
Mendeliome v0.11939 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11938 TAS2R38 Zornitza Stark Marked gene: TAS2R38 as ready
Mendeliome v0.11938 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11938 TAS2R38 Zornitza Stark Phenotypes for gene: TAS2R38 were changed from to [Phenylthiocarbamide tasting] 171200
Mendeliome v0.11937 TAS2R38 Zornitza Stark Mode of inheritance for gene: TAS2R38 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11936 TAS2R38 Zornitza Stark Classified gene: TAS2R38 as Red List (low evidence)
Mendeliome v0.11936 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R38 Zornitza Stark reviewed gene: TAS2R38: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Phenylthiocarbamide tasting] 171200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11935 TAS2R16 Zornitza Stark Marked gene: TAS2R16 as ready
Mendeliome v0.11935 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R16 Zornitza Stark Phenotypes for gene: TAS2R16 were changed from to [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956
Mendeliome v0.11934 TAS2R16 Zornitza Stark Mode of inheritance for gene: TAS2R16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11933 TAS2R16 Zornitza Stark Classified gene: TAS2R16 as Red List (low evidence)
Mendeliome v0.11933 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11932 TAS2R16 Zornitza Stark reviewed gene: TAS2R16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy v0.246 ACER3 Arina Puzriakova reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34281620; Phenotypes: Leukodystrophy, progressive, early childhood-onset, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11932 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Mendeliome v0.11932 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mendeliome v0.11932 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Mendeliome v0.11931 TANGO2 Zornitza Stark Publications for gene: TANGO2 were set to
Mendeliome v0.11930 TANGO2 Zornitza Stark Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TACR3 Zornitza Stark Marked gene: TACR3 as ready
Mendeliome v0.11929 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Mendeliome v0.11929 TACR3 Zornitza Stark Phenotypes for gene: TACR3 were changed from to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Mendeliome v0.11928 TACR3 Zornitza Stark Publications for gene: TACR3 were set to
Mendeliome v0.11927 TACR3 Zornitza Stark Mode of inheritance for gene: TACR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TACR3 Zornitza Stark reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20332248, 19079066; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TAC3 Zornitza Stark Marked gene: TAC3 as ready
Mendeliome v0.11926 TAC3 Zornitza Stark Gene: tac3 has been classified as Green List (High Evidence).
Mendeliome v0.11926 TAC3 Zornitza Stark Phenotypes for gene: TAC3 were changed from to Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839
Mendeliome v0.11925 TAC3 Zornitza Stark Publications for gene: TAC3 were set to
Mendeliome v0.11924 TAC3 Zornitza Stark Mode of inheritance for gene: TAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 TAC3 Zornitza Stark reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 T Zornitza Stark Marked gene: T as ready
Mendeliome v0.11923 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11923 T Zornitza Stark Phenotypes for gene: T were changed from to Sacral agenesis with vertebral anomalies, MIM# 615709
Mendeliome v0.11922 T Zornitza Stark Publications for gene: T were set to
Mendeliome v0.11921 T Zornitza Stark Mode of inheritance for gene: T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11920 T Zornitza Stark Classified gene: T as Red List (low evidence)
Mendeliome v0.11920 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11919 T Zornitza Stark reviewed gene: T: Rating: RED; Mode of pathogenicity: None; Publications: 24253444, 28116192; Phenotypes: Sacral agenesis with vertebral anomalies 615709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11919 LAT Zornitza Stark Publications for gene: LAT were set to
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Lymphatic malformation 7 (MIM#617300), AD
Hydrops fetalis v0.237 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Hydrops fetalis v0.236 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.235 GUSB Zornitza Stark Marked gene: GUSB as ready
Hydrops fetalis v0.235 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Hydrops fetalis v0.235 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Hydrops fetalis v0.234 GUSB Zornitza Stark Publications for gene: GUSB were set to
Hydrops fetalis v0.233 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34302381; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11918 TCF20 Zornitza Stark Publications for gene: TCF20 were set to 30739909; 30819258; 25228304
Mendeliome v0.11917 LAS1L Zornitza Stark Publications for gene: LAS1L were set to 25644381; 34653234; 26358559
Mendeliome v0.11916 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: GREEN; Changed phenotypes: Wilson-Turner syndrome, MIM# 309585, congenital lethal motor neuron disease
Mendeliome v0.11916 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Mendeliome v0.11915 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Polymicrogyria and Schizencephaly v0.174 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Polymicrogyria and Schizencephaly v0.173 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.172 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11914 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Classified gene: LAMC3 as Green List (high evidence)
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Mendeliome v0.11913 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Mendeliome v0.11912 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.177 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Proteinuria v0.177 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Proteinuria v0.177 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Proteinuria v0.176 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Proteinuria v0.175 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.174 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11911 LBR Alison Yeung Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140
Mendeliome v0.11910 LBR Alison Yeung Marked gene: LBR as ready
Mendeliome v0.11910 LBR Alison Yeung Gene: lbr has been classified as Green List (High Evidence).
Mendeliome v0.11910 LBR Alison Yeung Publications for gene: LBR were set to
Mendeliome v0.11909 LBR Alison Yeung Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11908 LAT Alison Yeung Marked gene: LAT as ready
Mendeliome v0.11908 LAT Alison Yeung Gene: lat has been classified as Green List (High Evidence).
Mendeliome v0.11908 LAT Alison Yeung Mode of inheritance for gene: LAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11907 LAT Alison Yeung Phenotypes for gene: LAT were changed from to Immunodeficiency 52, MIM# 617514
Mendeliome v0.11906 LAT Alison Yeung reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.232 EPHB4 Abhijit Kulkarni reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 35178555; Phenotypes: Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11906 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Mendeliome v0.11905 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Mendeliome v0.11904 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756
Hydrops fetalis v0.231 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
Hydrops fetalis v0.230 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11903 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140; Corpus callosum, partial agenesis of, MIM# 304100
Mendeliome v0.11902 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, Corpus callosum, partial agenesis of, MIM# 304100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.114 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Hydrocephalus_Ventriculomegaly v0.113 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.112 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350, L1 syndrome, MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11902 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Mendeliome v0.11901 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
Genetic Epilepsy v0.1506 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Genetic Epilepsy v0.1505 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11900 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Mendeliome v0.11900 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Mendeliome v0.11900 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
Mendeliome v0.11899 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Hydrops fetalis v0.229 GUSB Abhijit Kulkarni reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30442200; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11898 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11897 NPPC Zornitza Stark Marked gene: NPPC as ready
Mendeliome v0.11897 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Mendeliome v0.11897 NPPC Zornitza Stark Phenotypes for gene: NPPC were changed from to short stature and non-specific skeletal anomalies - MONDO#0014551
Mendeliome v0.11896 NPPC Zornitza Stark Publications for gene: NPPC were set to
Mendeliome v0.11895 NPPC Zornitza Stark Mode of inheritance for gene: NPPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11894 NPPC Zornitza Stark Classified gene: NPPC as Red List (low evidence)
Mendeliome v0.11894 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Cholestasis v0.225 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Cholestasis v0.225 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Cholestasis v0.225 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205)
Cholestasis v0.224 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Cholestasis v0.223 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.78 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) to Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.76 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Osteogenesis Imperfecta and Osteoporosis v0.75 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Congenital Heart Defect v0.205 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Congenital Heart Defect v0.204 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.112 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.112 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.112 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.111 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.110 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11893 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Mendeliome v0.11893 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Mendeliome v0.11893 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Mendeliome v0.11892 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Mendeliome v0.11891 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11890 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Mendeliome v0.11890 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Mendeliome v0.11890 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
Mendeliome v0.11889 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Mendeliome v0.11888 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
Congenital Heart Defect v0.202 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Congenital Heart Defect v0.201 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11887 NONO Zornitza Stark Marked gene: NONO as ready
Mendeliome v0.11887 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Mendeliome v0.11887 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Mendeliome v0.11886 NONO Zornitza Stark Publications for gene: NONO were set to
Mendeliome v0.11885 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Marked gene: NONO as ready
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Intellectual disability syndromic and non-syndromic v0.4600 NONO Zornitza Stark Publications for gene: NONO were set to
Intellectual disability syndromic and non-syndromic v0.4599 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.425 NONO Zornitza Stark Marked gene: NONO as ready
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Callosome v0.425 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Regression v0.453 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Regression v0.453 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Regression v0.453 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 - MIM#614937
Regression v0.452 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.452 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Regression v0.451 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.450 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Regression v0.450 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11884 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Mendeliome v0.11884 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11884 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 MIM#614937
Mendeliome v0.11883 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Mendeliome v0.11882 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11881 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Mendeliome v0.11881 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Marked gene: NOG as ready
Mendeliome v0.11880 NOG Zornitza Stark Gene: nog has been classified as Green List (High Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Phenotypes for gene: NOG were changed from to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Mendeliome v0.11879 NOG Zornitza Stark Publications for gene: NOG were set to
Mendeliome v0.11878 NOG Zornitza Stark Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11877 NNT Zornitza Stark Marked gene: NNT as ready
Mendeliome v0.11877 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Mendeliome v0.11877 NNT Zornitza Stark Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Mendeliome v0.11876 NNT Zornitza Stark Publications for gene: NNT were set to
Mendeliome v0.11875 NNT Zornitza Stark Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11874 NLRP7 Zornitza Stark Marked gene: NLRP7 as ready
Mendeliome v0.11874 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Mendeliome v0.11874 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from to Hydatidiform mole, recurrent, 1 - MIM#231090
Mendeliome v0.11873 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to
Mendeliome v0.11872 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11871 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Mendeliome v0.11871 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Mendeliome v0.11871 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Mendeliome v0.11870 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Mendeliome v0.11869 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Autoinflammatory Disorders v0.139 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Autoinflammatory Disorders v0.138 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11868 TCF20 Elena Savva reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34904221, 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Marked gene: POU3F3 as ready
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Classified gene: POU3F3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4598 LAS1L Alison Yeung Classified gene: LAS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4598 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4597 LAS1L Alison Yeung Publications for gene: LAS1L were set to 25644381; 26358559
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Classified gene: LAS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Added comment: Comment on list classification: Additional patient reported in literature
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Mendeliome v0.11868 LAS1L Alison Yeung Marked gene: LAS1L as ready
Mendeliome v0.11868 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Mendeliome v0.11868 LAS1L Alison Yeung Publications for gene: LAS1L were set to
Mendeliome v0.11867 LAS1L Alison Yeung Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11866 LAS1L Alison Yeung Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Mendeliome v0.11865 LAS1L Alison Yeung edited their review of gene: LAS1L: Changed publications: 25644381, 34653234, 26358559
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 34653234, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11865 LARGE1 Alison Yeung Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840
Mendeliome v0.11864 LARGE1 Alison Yeung Marked gene: LARGE1 as ready
Mendeliome v0.11864 LARGE1 Alison Yeung Gene: large1 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LARGE1 Alison Yeung reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12966029, 19067344, 17436019, 21248746; Phenotypes: Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154, Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMC3 Alison Yeung Marked gene: LAMC3 as ready
Mendeliome v0.11864 LAMC3 Alison Yeung Gene: lamc3 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMC3 Alison Yeung reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMB2 Alison Yeung Marked gene: LAMB2 as ready
Mendeliome v0.11864 LAMB2 Alison Yeung Gene: lamb2 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMB2 Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

The two disorders are likely part of a spectrum. More than 5 unrelated families reported. ; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

More than 5 unrelated families reported.
Mendeliome v0.11864 LAMB2 Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.; to: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

Nephrotic syndrome type 5 is an autosomal recessive disorder characterized by very early onset of progressive renal failure manifest as proteinuria with consecutive edema starting in utero or within the first 3 months of life. A subset of patients may develop mild ocular anomalies, such as myopia, nystagmus, and strabismus.

The two disorders are likely part of a spectrum. More than 5 unrelated families reported.
Mendeliome v0.11864 LAMB2 Alison Yeung reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Abhijit Kulkarni reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11864 L1CAM Alison Yeung Marked gene: L1CAM as ready
Mendeliome v0.11864 L1CAM Alison Yeung Gene: l1cam has been classified as Green List (High Evidence).
Mendeliome v0.11864 L1CAM Alison Yeung Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
Mendeliome v0.11863 L1CAM Alison Yeung reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11863 TRIM63 Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11862 TRIM63 Zornitza Stark edited their review of gene: TRIM63: Changed rating: GREEN; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy v0.162 TRIM63 Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11862 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11861 MYOM1 Zornitza Stark Classified gene: MYOM1 as Red List (low evidence)
Mendeliome v0.11861 MYOM1 Zornitza Stark Gene: myom1 has been classified as Red List (Low Evidence).
Mendeliome v0.11860 MYOM1 Zornitza Stark edited their review of gene: MYOM1: Changed rating: RED; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy v0.161 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Genetic Epilepsy v0.1503 NPRL3 Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NPRL3 Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NPPC Krithika Murali reviewed gene: NPPC: Rating: RED; Mode of pathogenicity: None; Publications: 28661490, 32528716; Phenotypes: short stature and non-specific skeletal anomalies - MONDO#0014551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.74 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.200 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.109 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH1 Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.200 NOTCH1 Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NONO Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4595 NONO Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.424 NONO Krithika Murali gene: NONO was added
gene: NONO was added to Callosome. Sources: Literature
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Review for gene: NONO was set to GREEN
Added comment: Syndromic ID with associated features reported including corpus callosum and cardiac anomalies.
Sources: Literature
Regression v0.449 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: 22926851; Phenotypes: ?Myoclonus, familial, 1 - MIM#614937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19 (MIM#614844)
Syndromic Retinopathy v0.189 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.187 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007, 33531950; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11860 NOG Krithika Murali reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NNT Krithika Murali reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP7 Krithika Murali reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23201303, 23125094, 25097207, 26606510, 19650864, 23880596, 22770628, 26544189, 28428943, 21623199, 21439709, 33583041, 32055942, 19246479, 19066229, 34189227; Phenotypes: Hydatidiform mole, recurrent, 1 - MIM#231090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Intellectual disability syndromic and non-syndromic v0.4594 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Intellectual disability syndromic and non-syndromic v0.4593 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4592 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Mendeliome v0.11860 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Mendeliome v0.11860 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Mendeliome v0.11859 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Mendeliome v0.11858 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11857 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.245 STAR Zornitza Stark Marked gene: STAR as ready
Differences of Sex Development v0.245 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Differences of Sex Development v0.245 STAR Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
Differences of Sex Development v0.244 STAR Zornitza Stark Publications for gene: STAR were set to
Differences of Sex Development v0.243 STAR Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.242 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11857 STAR Zornitza Stark Marked gene: STAR as ready
Mendeliome v0.11857 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Mendeliome v0.11857 STAR Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
Mendeliome v0.11856 STAR Zornitza Stark Publications for gene: STAR were set to
Mendeliome v0.11855 STAR Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Mendeliome v0.11854 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Mendeliome v0.11854 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162
Mendeliome v0.11853 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Mendeliome v0.11852 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16934001, 22573496, 26513235, 12590259, 16585605, 20841510, 21714643, 21727188; Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796, Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mendeliome v0.11851 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mendeliome v0.11851 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636; Pseudo-TORCH syndrome 3, MIM# 618886
Mendeliome v0.11850 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mendeliome v0.11849 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121, 31836668, 32092142; Phenotypes: Immunodeficiency 44, MIM# 616636, Pseudo-TORCH syndrome 3, MIM# 618886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STS Zornitza Stark Marked gene: STS as ready
Mendeliome v0.11848 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Mendeliome v0.11848 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Mendeliome v0.11847 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11846 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Mendeliome v0.11846 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Mendeliome v0.11846 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Mendeliome v0.11846 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093
Mendeliome v0.11845 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Mendeliome v0.11844 STUB1 Zornitza Stark Mode of inheritance for gene: STUB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11843 STUB1 Zornitza Stark changed review comment from: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list; to: Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset.
Sources: Expert list
Mendeliome v0.11843 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed publications: 25258038, 24742043, 32337344, 30381368, 31126790; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768, Spinocerebellar ataxia 48, MIM#618093; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Marked gene: STX11 as ready
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Disorders of immune dysregulation v0.114 STX11 Zornitza Stark Publications for gene: STX11 were set to
Disorders of immune dysregulation v0.113 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.112 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11843 STX11 Zornitza Stark Marked gene: STX11 as ready
Mendeliome v0.11843 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Mendeliome v0.11843 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11842 STX11 Zornitza Stark Publications for gene: STX11 were set to
Mendeliome v0.11841 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11840 STX11 Zornitza Stark edited their review of gene: STX11: Changed phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11840 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.109 NFIA Zornitza Stark Marked gene: NFIA as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11840 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Mendeliome v0.11840 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Mendeliome v0.11840 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Mendeliome v0.11839 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Mendeliome v0.11838 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Autoinflammatory Disorders v0.136 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Autoinflammatory Disorders v0.135 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.180 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4591 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Intellectual disability syndromic and non-syndromic v0.4590 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v0.11837 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11836 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Mendeliome v0.11836 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Mendeliome v0.11836 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Mendeliome v0.11835 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.179 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Autism v0.179 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Autism v0.179 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v0.11834 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.134 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.178 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.177 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11834 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Mendeliome v0.11834 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Mendeliome v0.11834 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330
Mendeliome v0.11833 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Mendeliome v0.11832 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Skeletal Dysplasia_Fetal v0.61 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Skeletal Dysplasia_Fetal v0.60 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11831 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Mendeliome v0.11831 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Mendeliome v0.11831 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6 - MIM#612281
Mendeliome v0.11830 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Mendeliome v0.11829 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Marked gene: NHS as ready
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
Intellectual disability syndromic and non-syndromic v0.4588 NHS Zornitza Stark Publications for gene: NHS were set to
Intellectual disability syndromic and non-syndromic v0.4587 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11828 NHS Zornitza Stark Marked gene: NHS as ready
Mendeliome v0.11828 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Mendeliome v0.11828 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
Mendeliome v0.11827 NHS Zornitza Stark Publications for gene: NHS were set to
Mendeliome v0.11826 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Marked gene: NFKBIL1 as ready
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Phenotypes for gene: NFKBIL1 were changed from to {Rheumatoid arthritis, susceptibility to} - MIM#180300
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Classified gene: NFKBIL1 as Red List (low evidence)
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Callosome v0.424 NFIA Zornitza Stark Marked gene: NFIA as ready
Callosome v0.424 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Callosome v0.424 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Callosome v0.423 NFIA Zornitza Stark Publications for gene: NFIA were set to
Callosome v0.422 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11823 NFIA Zornitza Stark Marked gene: NFIA as ready
Mendeliome v0.11823 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11823 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Mendeliome v0.11822 NFIA Zornitza Stark Publications for gene: NFIA were set to
Mendeliome v0.11821 NFIA Zornitza Stark Mode of inheritance for gene: NFIA 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) v0.109 NFIA Zornitza Stark Classified gene: NFIA as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11820 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.108 NFIA Zornitza Stark gene: NFIA was added
gene: NFIA was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 35018717; 33973697; 32926563
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735
Review for gene: NFIA was set to GREEN
Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4586 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Intellectual disability syndromic and non-syndromic v0.4585 NFIA Zornitza Stark Publications for gene: NFIA were set to
Intellectual disability syndromic and non-syndromic v0.4584 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4584 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11819 NEXN Zornitza Stark Marked gene: NEXN as ready
Mendeliome v0.11819 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Mendeliome v0.11819 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Mendeliome v0.11818 NEXN Zornitza Stark Publications for gene: NEXN were set to
Mendeliome v0.11817 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.421 NEXN Zornitza Stark Marked gene: NEXN as ready
Callosome v0.421 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Callosome v0.421 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Callosome v0.420 NEXN Zornitza Stark Publications for gene: NEXN were set to
Callosome v0.419 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.418 NEXN Zornitza Stark Classified gene: NEXN as Red List (low evidence)
Callosome v0.418 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Fetal anomalies v1.12 NEXN Zornitza Stark Marked gene: NEXN as ready
Fetal anomalies v1.12 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Fetal anomalies v1.12 NEXN Zornitza Stark Classified gene: NEXN as Green List (high evidence)
Fetal anomalies v1.12 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.229 NEXN Zornitza Stark Marked gene: NEXN as ready
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.229 NEXN Zornitza Stark Classified gene: NEXN as Green List (high evidence)
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Marked gene: STX1B as ready
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Intellectual disability syndromic and non-syndromic v0.4582 STX1B Zornitza Stark Publications for gene: STX1B were set to
Intellectual disability syndromic and non-syndromic v0.4581 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4580 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Marked gene: STX1B as ready
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Genetic Epilepsy v0.1502 STX1B Zornitza Stark Publications for gene: STX1B were set to
Genetic Epilepsy v0.1501 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1500 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11816 STX1B Zornitza Stark edited their review of gene: STX1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11816 STX1B Zornitza Stark Marked gene: STX1B as ready
Mendeliome v0.11816 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Mendeliome v0.11816 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Mendeliome v0.11815 STX1B Zornitza Stark Publications for gene: STX1B were set to
Mendeliome v0.11814 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11813 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: None
Mendeliome v0.11813 STX2 Zornitza Stark Marked gene: STX2 as ready
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11813 STX2 Zornitza Stark Classified gene: STX2 as Red List (low evidence)
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX2 Zornitza Stark reviewed gene: STX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11812 STX4 Zornitza Stark Marked gene: STX4 as ready
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX4 Zornitza Stark Classified gene: STX4 as Red List (low evidence)
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11811 STX4 Zornitza Stark reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11811 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Mendeliome v0.11811 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Mendeliome v0.11811 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
Mendeliome v0.11810 STXBP2 Zornitza Stark Publications for gene: STXBP2 were set to
Mendeliome v0.11809 STXBP2 Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 STXBP2 Zornitza Stark reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Mendeliome v0.11808 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Mendeliome v0.11808 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14, MIM# 617571
Mendeliome v0.11807 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Mendeliome v0.11806 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SULT2B1 Zornitza Stark reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14, MIM# 617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Mendeliome v0.11805 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Mendeliome v0.11805 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)
Mendeliome v0.11804 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Mendeliome v0.11803 SUMF1 Zornitza Stark Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMF1 Zornitza Stark reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17360554, 25885655, 28566233; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMO4 Zornitza Stark Marked gene: SUMO4 as ready
Mendeliome v0.11802 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11802 SUMO4 Zornitza Stark Phenotypes for gene: SUMO4 were changed from to {Diabetes mellitus, insulin-dependent, 5} 600320
Mendeliome v0.11801 SUMO4 Zornitza Stark Publications for gene: SUMO4 were set to
Mendeliome v0.11800 SUMO4 Zornitza Stark Mode of inheritance for gene: SUMO4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11799 SUMO4 Zornitza Stark Classified gene: SUMO4 as Red List (low evidence)
Mendeliome v0.11799 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11798 SUMO4 Zornitza Stark reviewed gene: SUMO4: Rating: RED; Mode of pathogenicity: None; Publications: 15123604; Phenotypes: {Diabetes mellitus, insulin-dependent, 5} 600320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11798 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Mendeliome v0.11798 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Mendeliome v0.11798 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Mendeliome v0.11797 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Mendeliome v0.11796 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association with mitochondrial disease.
Mendeliome v0.11795 SURF1 Zornitza Stark reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Mendeliome v0.11795 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Mendeliome v0.11795 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Macrocephaly_Megalencephaly v0.106 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Macrocephaly_Megalencephaly v0.105 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.104 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11794 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Macrocephaly_Megalencephaly v0.103 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11793 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 SUZ12 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported, ID and overgrowth.
Mendeliome v0.11792 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: ; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4580 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.175 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4580 KCND3 Elena Savva reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35021282, 32823520, 34067185, 34361012; Phenotypes: Spinocerebellar ataxia 19 MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11792 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.59 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11792 NIPAL4 Krithika Murali reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4580 NHS Krithika Murali reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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 v0.11792 NHS Krithika Murali reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; 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 v0.11792 NFKBIL1 Krithika Murali reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None
Mendeliome v0.11792 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.417 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4580 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NEXN Krithika Murali reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.417 NEXN Krithika Murali reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.11 NEXN Krithika Murali gene: NEXN was added
gene: NEXN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062
Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Review for gene: NEXN was set to GREEN
Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.

PMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.


PMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis.

PMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history.
Sources: Literature
Hydrops fetalis v0.228 NEXN Krithika Murali gene: NEXN was added
gene: NEXN was added to Hydrops fetalis. Sources: Literature
Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were set to 33947203; 33949776; 35166435
Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Review for gene: NEXN was set to GREEN
Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy. Fetal Hydrops reported in two of these families.

PMID 35166435 - 3 consecutive affected pregnancies with intrauterine fetal death, dilated cardiomyopathy +/- fetal hydrops/IUGR. Autopsy findings of DCM, endomyocardial fibroelastosis. Non-consanguineous Swedish family. Homozygous variant identified - (NM_144573:c.1302del;p.(Ile435Serfs*3)). Heterozygous carriers enriched in Swedish population.


PMID: 33949776 - Report a 11 year old with mild DCM on cardiac MRI with a heterozygous paternally inherited variant (1949_1951del), father also had mild DCM. Also report a 2nd patient who presented with fetal Hydrops at 33 weeks gestation requiring emergency C-section. Homozygous c.1174C > T,p.(R392*) variants identified. Microscopic investigation showed endomyocardial fibroelastosis.

PMID: 32058062 - male fetus, compound het, DCM, MTOP; previous pregnancy with the same history.
Sources: Literature
Ataxia v0.330 SUFU Alison Yeung Marked gene: SUFU as ready
Ataxia v0.330 SUFU Alison Yeung Gene: sufu has been classified as Green List (High Evidence).
Ataxia v0.330 SUFU Alison Yeung Classified gene: SUFU as Green List (high evidence)
Ataxia v0.330 SUFU Alison Yeung Added comment: Comment on list classification: Associated with paediatric-onset ataxia with oculomotor apraxia
Ataxia v0.330 SUFU Alison Yeung Gene: sufu has been classified as Green List (High Evidence).
Ataxia v0.329 SUFU Alison Yeung gene: SUFU was added
gene: SUFU was added to Ataxia - paediatric. Sources: Literature
Mode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SUFU were set to 33024317
Phenotypes for gene: SUFU were set to congenital ocular motor apraxia (forme fruste of Joubert syndrome)
Review for gene: SUFU was set to GREEN
gene: SUFU was marked as current diagnostic
Added comment: Clinical features include congenital oculomotor apraxia, hypotonia, ataxia and mild DD, and only a third manifested intellectual disability of variable severity. Brain MRI shows consistent findings characterised by vermis hypoplasia, superior cerebellar dysplasia and subtle-to-mild abnormalities of the superior cerebellar peduncles.

SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.
Sources: Literature
Mendeliome v0.11792 NEK2 Zornitza Stark Marked gene: NEK2 as ready
Mendeliome v0.11792 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11792 NEK2 Zornitza Stark Phenotypes for gene: NEK2 were changed from to Retinitis pigmentosa 67, MIM#615565
Mendeliome v0.11791 NEK2 Zornitza Stark Publications for gene: NEK2 were set to
Mendeliome v0.11790 NEK2 Zornitza Stark Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11789 NEK2 Zornitza Stark Classified gene: NEK2 as Amber List (moderate evidence)
Mendeliome v0.11789 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4580 NDUFV2 Zornitza Stark changed review comment from: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, or episodic regression with cavitating leukoencephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.4580 NDUFV2 Zornitza Stark edited their review of gene: NDUFV2: Changed publications: 12754703, 26008862, 29554876, 33811136
Regression v0.449 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Regression v0.449 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Regression v0.449 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Regression v0.448 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Regression v0.447 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.417 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Callosome v0.417 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Callosome v0.417 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Callosome v0.416 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Callosome v0.415 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.414 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Callosome v0.414 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.747 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862
Mendeliome v0.11788 SYCP3 Zornitza Stark Marked gene: SYCP3 as ready
Mendeliome v0.11788 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11788 SYCP3 Zornitza Stark Phenotypes for gene: SYCP3 were changed from to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960
Mendeliome v0.11787 SYCP3 Zornitza Stark Publications for gene: SYCP3 were set to