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Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Lysosomal Storage Disorder v1.25 Zornitza Stark Copied gene TMEM251 from panel Skeletal dysplasia
Lysosomal Storage Disorder v1.25 TMEM251 Zornitza Stark gene: TMEM251 was added
gene: TMEM251 was added to Lysosomal Storage Disorder. Sources: Expert Review Green,Literature
new gene name tags were added to gene: TMEM251.
Mode of inheritance for gene: TMEM251 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM251 were set to 33252156; 40171858
Phenotypes for gene: TMEM251 were set to Dysostosis multiplex, Ain-Naz type 619345
Mendeliome v1.4019 TMEM251 Zornitza Stark Publications for gene: TMEM251 were set to 33252156
Mendeliome v1.4018 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Mendeliome v1.4018 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Mendeliome v1.4017 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.; Changed rating: GREEN; Changed publications: 40171858
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark changed review comment from: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.; to: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.

HGNC approved name is LYSET.
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark Tag new gene name tag was added to gene: TMEM251.
Skeletal dysplasia v0.394 TMEM251 Zornitza Stark Publications for gene: TMEM251 were set to 33252156
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Changed publications: 40171858
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark Classified gene: TMEM251 as Green List (high evidence)
Skeletal dysplasia v0.393 TMEM251 Zornitza Stark Gene: tmem251 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.392 TMEM251 Zornitza Stark edited their review of gene: TMEM251: Changed rating: GREEN
Skeletal dysplasia v0.392 TMEM251 Zornitza Stark commented on gene: TMEM251: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality.
Mendeliome v1.4017 KLHL7 Lucy Spencer Mode of inheritance for gene: KLHL7 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark Marked gene: DNALI1 as ready
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.68 Zornitza Stark Copied gene DNALI1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.68 DNALI1 Zornitza Stark gene: DNALI1 was added
gene: DNALI1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469
Phenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related
Mendeliome v1.4016 DNALI1 Zornitza Stark Marked gene: DNALI1 as ready
Mendeliome v1.4016 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Mendeliome v1.4016 DNALI1 Zornitza Stark Classified gene: DNALI1 as Green List (high evidence)
Mendeliome v1.4016 DNALI1 Zornitza Stark Gene: dnali1 has been classified as Green List (High Evidence).
Mendeliome v1.4015 DNALI1 Zornitza Stark gene: DNALI1 was added
gene: DNALI1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: DNALI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNALI1 were set to 40298292; 38212584; 36792588; 36726469
Phenotypes for gene: DNALI1 were set to Spermatogenic failure, MONDO:0004983, DNALI1-related
Review for gene: DNALI1 was set to GREEN
Added comment: PMIDs 36726469, 36792588, 38212584 and 40298292 report four unrelated individuals from four families with biallelic loss‑of‑function DNALI1 variants (c.691_693del, c.663_666del, c.464‑1G>A, c.490dup) causing male infertility characterised by severe asthenozoospermia/asthénoteratozoospermia. The variants segregate as autosomal recessive and functional studies—including a mouse knockout recapitulating infertility, TEM showing loss of inner dynein arms, immunofluorescence loss of DNALI1 protein, and a minigene splicing assay demonstrating exon skipping—support loss‑of‑function as the disease mechanism.
Sources: Literature
Incidentalome v0.373 DAGLB Zornitza Stark Marked gene: DAGLB as ready
Incidentalome v0.373 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Mendeliome v1.4014 KLHL24 Lucy Spencer Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss OMIM#617294; dilated cardiomyopathy; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294; Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
Epidermolysis bullosa v1.23 KLHL24 Lucy Spencer Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex, generalized, with scarring and hair loss, MIM# 617294 to Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy MIM# 617294
Incidentalome v0.373 Zornitza Stark Copied gene DAGLB from panel Early-onset Parkinson disease
Incidentalome v0.373 DAGLB Zornitza Stark gene: DAGLB was added
gene: DAGLB was added to Incidentalome. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAGLB were set to 35715418; 40244389
Phenotypes for gene: DAGLB were set to Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Marked gene: DAGLB as ready
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.47 DAGLB Zornitza Stark Phenotypes for gene: DAGLB were changed from to Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark edited their review of gene: DAGLB: Changed phenotypes: Parkinson disease, MONDO:0005180, DALGB-related
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark Classified gene: DAGLB as Green List (high evidence)
Early-onset Parkinson disease v2.46 DAGLB Zornitza Stark Gene: daglb has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.45 DAGLB Zornitza Stark gene: DAGLB was added
gene: DAGLB was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: DAGLB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAGLB were set to 35715418; 40244389
Review for gene: DAGLB was set to GREEN
Added comment: PMID 35715418 reports 6 individuals from 4 families and PMID 40244389 reports 3 individuals from 3 families, together comprising 9 individuals from 7 unrelated families with biallelic loss-of-function DAGLB variants causing early‑onset Parkinsonism (onset 27‑52 years) characterized by resting tremor, bradykinesia, rigidity, postural instability and good levodopa response. Functional studies (Western blot loss of DAGLB protein, CRISPR‑SaCas9 knock‑down in mouse nigral dopaminergic neurons reducing 2‑AG levels, and rescue of motor deficits by MAGL inhibition) support loss‑of‑function as the disease mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.558 KLF7 Lucy Spencer Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related
Mendeliome v1.4013 KLF7 Lucy Spencer Phenotypes for gene: KLF7 were changed from Intellectual disability to Neurodevelopmental disorder (MONDO:0700092), KLF7-related
Hypertrophic cardiomyopathy v1.21 KLF10 Lucy Spencer Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related
Mendeliome v1.4012 KLF10 Lucy Spencer Phenotypes for gene: KLF10 were changed from HCM to Hypertrophic cardiomyopathy MONDO:0005045, KLF10-related
Hereditary Spastic Paraplegia v1.135 KLC4 Lucy Spencer Phenotypes for gene: KLC4 were changed from spastic paraplegia; progressive complicated spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129
Mendeliome v1.4011 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4010 KLC4 Lucy Spencer Phenotypes for gene: KLC4 were changed from Complicated hereditary spastic paraplegia to Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy, MIM# 621129
Mendeliome v1.4009 ATP5B Zornitza Stark Publications for gene: ATP5B were set to 36860166; 36239646
Mendeliome v1.4008 ATP5B Zornitza Stark edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935; Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.8 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Hypogonadotropic hypogonadism v0.78 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Pituitary hormone deficiency v0.171 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Differences of Sex Development v1.33 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Mitochondrial disease v1.7 ATP5B Zornitza Stark Publications for gene: ATP5B were set to 36860166; 36239646
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935
Mendeliome v1.4008 KLB Lucy Spencer Phenotypes for gene: KLB were changed from Hypogonadotropic hypogonadism to Hypogonadotropic hypogonadism MONDO:0018555, KLB-related
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mendeliome v1.4007 KIRREL3 Lucy Spencer Phenotypes for gene: KIRREL3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, KIRREL3-related
Mendeliome v1.4006 KIF5B Lucy Spencer Phenotypes for gene: KIF5B were changed from osteogenesis imperfecta, MONDO:0019019; Skeletal dysplasia, MONDO:0018230, KIF5B-related; Kyphomelic dysplasia to osteogenesis imperfecta, MONDO:0019019, KIF5B-related; Skeletal dysplasia, MONDO:0018230, KIF5B-related
Clefting disorders v0.301 ZFHX4 Boris Keren gene: ZFHX4 was added
gene: ZFHX4 was added to Clefting disorders. Sources: Literature
Mode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZFHX4 were set to PMID: 40367947
Phenotypes for gene: ZFHX4 were set to intellectual disability; short stature; cleft
Penetrance for gene: ZFHX4 were set to Incomplete
Review for gene: ZFHX4 was set to GREEN
gene: ZFHX4 was marked as current diagnostic
Added comment: New series with 57 probands with neurodevelopmental disorders and ZFHX4 pathogenic variants, mostly LoF and de novo.
Some patients have cleft palate.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.557 ZFHX4 Boris Keren reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40367947; Phenotypes: intellectual disability, short stature, cleft; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Brain Calcification v2.6 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.5 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Renal Tubulopathies and related disorders v1.23 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark Marked gene: SPIDR as ready
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark Gene: spidr has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.67 Zornitza Stark Copied gene SPIDR from panel Primary Ovarian Insufficiency_Premature Ovarian Failure
Infertility and Recurrent Pregnancy Loss v1.67 SPIDR Zornitza Stark gene: SPIDR was added
gene: SPIDR was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SPIDR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPIDR were set to 34794894; 34697795; 27967308; 41393291
Phenotypes for gene: SPIDR were set to Ovarian dysgenesis 9, MIM# 619665
Mendeliome v1.4005 GCM2 Chirag Patel Phenotypes for gene: GCM2 were changed from Hyperparathyroidism 4, OMIM #617343 to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883
Mendeliome v1.4004 GCM2 Chirag Patel Publications for gene: GCM2 were set to 27745835
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.393 SPIDR Zornitza Stark Publications for gene: SPIDR were set to 34794894; 34697795; 27967308
Mendeliome v1.4003 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.392 SPIDR Zornitza Stark edited their review of gene: SPIDR: Added comment: PMID 41393291: A single individual (P25) from a large cohort carries a homozygous in‑frame deletion p.Cys310_Glu313del in SPIDR, associated with POI. Segregation confirms carrier status. Variant is a VOUS however.; Changed publications: 41393291
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Marked gene: CFAP43 as ready
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark Deleted their comment
Infertility and Recurrent Pregnancy Loss v1.66 Zornitza Stark Copied gene CFAP43 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.66 CFAP43 Zornitza Stark gene: CFAP43 was added
gene: CFAP43 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP43 were set to 31884020; 31004071; 29449551; 28552195; 29277146; 29449551; 34089056; 34100391; 34529793; 36960497; 38745955; 40376536; 41341611
Phenotypes for gene: CFAP43 were set to Spermatogenic failure 19 MONDO:0054723
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Deleted their comment
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark changed review comment from: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.; to: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.

DEFINITIVE for association with infertility only, hence Green on the relevant panel.
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Classified gene: CFAP43 as Red List (low evidence)
Ciliary Dyskinesia v1.70 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Red List (Low Evidence).
Ciliary Dyskinesia v1.69 CFAP43 Zornitza Stark changed review comment from: DISPUTED by ClinGen for biallelic disease.; to: DISPUTED by ClinGen for biallelic PCD.

LIMITED for association with hydrocephalus.
Ciliary Dyskinesia v1.69 CFAP43 Zornitza Stark edited their review of gene: CFAP43: Changed rating: RED
Mendeliome v1.4002 CFAP43 Zornitza Stark Phenotypes for gene: CFAP43 were changed from Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19 617592 to Spermatogenic failure 19 MONDO:0054723
Mendeliome v1.4001 CFAP43 Zornitza Stark Publications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551
Mendeliome v1.4000 CFAP43 Zornitza Stark Mode of inheritance for gene: CFAP43 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3999 CFAP43 Zornitza Stark Classified gene: CFAP43 as Green List (high evidence)
Mendeliome v1.3999 CFAP43 Zornitza Stark Gene: cfap43 has been classified as Green List (High Evidence).
Mendeliome v1.3998 CFAP43 Zornitza Stark changed review comment from: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

Weak evidence for association with hydrocephalus.; to: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

LIMITED for association with hydrocephalus.
Mendeliome v1.3998 CFAP43 Zornitza Stark edited their review of gene: CFAP43: Added comment: Recent publications (PMIDs 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611) add >25 unrelated families with biallelic CFAP43 loss‑of‑function or damaging missense variants causing multiple morphological abnormalities of the sperm flagella (MMAF) and male infertility, supported by detailed semen analyses, segregation in parents, and functional mouse knockout or patient‑cell studies.

DEFINITIVE by ClinGen for this association.

Note association with PCD is DISPUTED.

Weak evidence for association with hydrocephalus.; Changed rating: GREEN; Changed publications: 28552195, 29277146, 29449551, 34089056, 34100391, 34529793, 36960497, 38745955, 40376536, 41341611; Changed phenotypes: Spermatogenic failure 19 MONDO:0054723
Liver Failure_Paediatric v1.33 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Liver Failure_Paediatric v1.32 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Liver Failure_Paediatric v1.31 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Liver Failure_Paediatric v1.31 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Liver Failure_Paediatric v1.30 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Susceptibility to Viral Infections v1.7 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Susceptibility to Viral Infections v1.6 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Susceptibility to Viral Infections v1.5 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Susceptibility to Viral Infections v1.5 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Susceptibility to Viral Infections v1.4 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 31213488, 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.28 IL18BP Zornitza Stark Phenotypes for gene: IL18BP were changed from {?Hepatitis, fulminant viral, susceptibility to} 618549 to {Hepatitis, fulminant viral, susceptibility to} 618549
Familial hypoparathyroidism v1.10 GCM2 Chirag Patel Phenotypes for gene: GCM2 were changed from Familial isolated hyperparathyroidism MONDO:0015027 to Hypoparathyroidism, familial isolated 2, OMIM #618883
Defects of intrinsic and innate immunity v1.27 IL18BP Zornitza Stark Publications for gene: IL18BP were set to 31213488
Familial hypoparathyroidism v1.9 GCM2 Chirag Patel Publications for gene: GCM2 were set to 27745835
Familial hypoparathyroidism v1.8 GCM2 Chirag Patel Mode of inheritance for gene: GCM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3998 GCM2 Chirag Patel reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27745835, 35038313, 20190276; Phenotypes: Hyperparathyroidism 4, OMIM #617343, Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Familial hypoparathyroidism v1.7 GCM2 Chirag Patel reviewed gene: GCM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 35038313, 20190276; Phenotypes: Hypoparathyroidism, familial isolated 2, OMIM #618883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v1.26 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Defects of intrinsic and innate immunity v1.26 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.25 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.; Changed rating: AMBER; Changed publications: 41334112, 31213488; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Mendeliome v1.3998 IL18BP Zornitza Stark changed review comment from: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; to: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis.
Mendeliome v1.3998 IL18BP Zornitza Stark Classified gene: IL18BP as Amber List (moderate evidence)
Mendeliome v1.3998 IL18BP Zornitza Stark Gene: il18bp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3997 IL18BP Zornitza Stark edited their review of gene: IL18BP: Added comment: PMID 41334112 Reports 3 individuals from 1 unrelated Egyptian family with a homozygous frameshift c.15_16del causing loss‑of‑function IL‑18BP. Two siblings (P1, P2) suffered fatal HAV‑induced fulminant viral hepatitis, while a third sibling (P3) experienced self‑healing CMV/EBV hepatitis. Autosomal recessive inheritance with complete penetrance is shown by carrier parents and heterozygous healthy siblings. In vitro assays demonstrate absence of IL‑18BP protein and loss of IL‑18 neutralisation.; Changed rating: AMBER; Changed publications: 41334112; Changed phenotypes: {Hepatitis, fulminant viral, susceptibility to} 618549
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Microcephaly v1.390 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Microcephaly v1.390 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Microcephaly v1.390 Zornitza Stark Copied gene NOP58 from panel Mendeliome
Microcephaly v1.390 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Microcephaly. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Intellectual disability syndromic and non-syndromic v1.557 Zornitza Stark Copied gene NOP58 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.557 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Mendeliome v1.3997 NOP58 Zornitza Stark Marked gene: NOP58 as ready
Mendeliome v1.3997 NOP58 Zornitza Stark Gene: nop58 has been classified as Red List (Low Evidence).
Mendeliome v1.3997 NOP58 Zornitza Stark gene: NOP58 was added
gene: NOP58 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NOP58 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NOP58 were set to 41383020
Phenotypes for gene: NOP58 were set to Neurodevelopmental disorder, MONDO:0700092, NOP58-related
Review for gene: NOP58 was set to RED
Added comment: PMID 41383020 reports a single individual with homozygous hypomorphic loss‑of‑function synonymous variant c.516G>A in NOP58 presenting with severe neurodevelopmental disorder characterized by global developmental delay, microcephaly, early‑onset seizures, facial dysmorphism, and brain structural anomalies. Functional studies in patient fibroblasts demonstrated exon 7 skipping, ~12 % residual NOP58 protein, reduced fibrillarin, altered nucleolar morphology, decreased box C/D snoRNAs, and impaired pre‑rRNA maturation.
Sources: Literature
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Corneal Dystrophy v1.20 PRDX3 Zornitza Stark Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871
Corneal Dystrophy v1.19 PRDX3 Zornitza Stark Publications for gene: PRDX3 were set to PMID: 33889951
Corneal Dystrophy v1.18 PRDX3 Zornitza Stark Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3996 PRDX3 Zornitza Stark Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia MONDO:0000437, PRDX3-related to Cerebellar ataxia MONDO:0000437, PRDX3-related; Corneal dystrophy, punctiform and polychromatic pre-Descemet MIM#619871
Mendeliome v1.3995 PRDX3 Zornitza Stark Publications for gene: PRDX3 were set to PMID: 33889951
Corneal Dystrophy v1.17 Zornitza Stark Copied gene PRDX3 from panel Mendeliome
Corneal Dystrophy v1.17 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Corneal Dystrophy. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to PMID: 33889951
Phenotypes for gene: PRDX3 were set to Cerebellar ataxia MONDO:0000437, PRDX3-related
Penetrance for gene: PRDX3 were set to unknown
Mendeliome v1.3994 PRDX3 Zornitza Stark Mode of inheritance for gene: PRDX3 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3993 PRDX3 Zornitza Stark reviewed gene: PRDX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 31782998, 34369396; Phenotypes: Corneal dystrophy, punctiform and polychromatic pre-Descemet 619871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypophosphataemia or rickets v0.52 Chirag Patel Panel status changed from retired to public
Skeletal dysplasia v0.392 Chirag Patel Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital
Skeletal dysplasia v0.391 MTAP Chirag Patel reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.391 FAM20B Chirag Patel Classified gene: FAM20B as Green List (high evidence)
Skeletal dysplasia v0.391 FAM20B Chirag Patel Gene: fam20b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.390 SRP54 Chirag Patel Classified gene: SRP54 as Red List (low evidence)
Skeletal dysplasia v0.390 SRP54 Chirag Patel Gene: srp54 has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.389 SRP54 Chirag Patel reviewed gene: SRP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.389 SEMA3A Chirag Patel Classified gene: SEMA3A as Red List (low evidence)
Skeletal dysplasia v0.389 SEMA3A Chirag Patel Gene: sema3a has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.388 SEMA3A Chirag Patel reviewed gene: SEMA3A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal dysplasia v0.388 DSPP Chirag Patel Classified gene: DSPP as Red List (low evidence)
Skeletal dysplasia v0.388 DSPP Chirag Patel Gene: dspp has been classified as Red List (Low Evidence).
Skeletal dysplasia v0.387 DSPP Chirag Patel reviewed gene: DSPP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.3993 SLC25A4 Sangavi Sivagnanasundram Added comment: Comment on publications: Addition of AD publications
Mendeliome v1.3993 SLC25A4 Sangavi Sivagnanasundram Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Mendeliome v1.3992 SLC25A4 Sangavi Sivagnanasundram reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21519523, 27693233; Phenotypes: Leigh syndrome MONDO:0009723, autosomal dominant progressive external ophthalmoplegia MONDO:0008003; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.387 VPS33A Chirag Patel Marked gene: VPS33A as ready
Skeletal dysplasia v0.387 VPS33A Chirag Patel Gene: vps33a has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 SLC35B2 Chirag Patel Marked gene: SLC35B2 as ready
Skeletal dysplasia v0.387 SLC35B2 Chirag Patel Gene: slc35b2 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 PDIA6 Chirag Patel Marked gene: PDIA6 as ready
Skeletal dysplasia v0.387 PDIA6 Chirag Patel Gene: pdia6 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 FGF4 Chirag Patel Marked gene: FGF4 as ready
Skeletal dysplasia v0.387 FGF4 Chirag Patel Gene: fgf4 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 LRRC8C Chirag Patel Marked gene: LRRC8C as ready
Skeletal dysplasia v0.387 LRRC8C Chirag Patel Gene: lrrc8c has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 C16orf62 Chirag Patel Marked gene: C16orf62 as ready
Skeletal dysplasia v0.387 C16orf62 Chirag Patel Gene: c16orf62 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 WBP11 Chirag Patel Marked gene: WBP11 as ready
Skeletal dysplasia v0.387 WBP11 Chirag Patel Gene: wbp11 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Marked gene: NMNAT1 as ready
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Classified gene: NMNAT1 as Amber List (moderate evidence)
Skeletal dysplasia v0.387 NMNAT1 Chirag Patel Gene: nmnat1 has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.387 Chirag Patel Copied gene VPS33A from panel Mendeliome
Skeletal dysplasia v0.387 VPS33A Chirag Patel gene: VPS33A was added
gene: VPS33A was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS33A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS33A were set to 28013294; 27547915; 31936524; 36153662
Phenotypes for gene: VPS33A were set to Mucopolysaccharidosis-plus syndrome (MIM#617303)
Skeletal dysplasia v0.386 Chirag Patel Copied gene SLC35B2 from panel Mendeliome
Skeletal dysplasia v0.386 SLC35B2 Chirag Patel gene: SLC35B2 was added
gene: SLC35B2 was added to Skeletal dysplasia. Sources: Expert Review Amber,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 Leukodystrophy, hypomyelinating, 26, with chondrodysplasia, MIM# 620269
Skeletal dysplasia v0.385 Chirag Patel Copied gene PDIA6 from panel Mendeliome
Skeletal dysplasia v0.385 PDIA6 Chirag Patel gene: PDIA6 was added
gene: PDIA6 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature,Literature
Mode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDIA6 were set to 40974269; 35856135; 33495992
Phenotypes for gene: PDIA6 were set to multiple congenital anomalies, MONDO:0019042, PDIA6-related
Skeletal dysplasia v0.384 NMNAT1 Chirag Patel gene: NMNAT1 was added
gene: NMNAT1 was added to Skeletal dysplasia. Sources: Expert List
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NMNAT1 were set to 32533184, 33668384
Phenotypes for gene: NMNAT1 were set to Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, and Leber congenital amaurosis (SHILCA), MIM#619260
Review for gene: NMNAT1 was set to AMBER
Added comment: 3 families reported, but 2 are distantly related (shared haplotype). Clinical presentation was severe spondylo-epiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis (SHILCA).

The affected children in the 2 related families were homozygous for 7.4-kb duplication involving the last 2 exons of the NMNAT1 gene, spanning the beginning of intron 3 to the middle of the 3-prime UTR (chr1:10,036,359-10,043,727, GRCh37). The third affected individual was compound het for the duplication and a splicing variant. mRNA expression assays detected aberrant alternative transcripts and unbalanced levels of expression.
Sources: Expert List
Skeletal dysplasia v0.383 Chirag Patel Copied gene FGF4 from panel Mendeliome
Skeletal dysplasia v0.383 FGF4 Chirag Patel gene: FGF4 was added
gene: FGF4 was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: FGF4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGF4 were set to 40259859
Phenotypes for gene: FGF4 were set to Short-rib thoracic dysplasia 22 without polydactyly, MIM# 621260
Skeletal dysplasia v0.383 Chirag Patel Copied gene LRRC8C from panel Mendeliome
Skeletal dysplasia v0.383 LRRC8C Chirag Patel gene: LRRC8C was added
gene: LRRC8C was added to Skeletal dysplasia. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome MIM#621056
Mode of pathogenicity for gene: LRRC8C was set to Other
Lymphoedema v0.14 UNC45A Zornitza Stark Marked gene: UNC45A as ready
Lymphoedema v0.14 UNC45A Zornitza Stark Gene: unc45a has been classified as Green List (High Evidence).
Lymphoedema v0.14 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573
Mendeliome v1.3992 UNC45A Zornitza Stark Tag 5'UTR tag was added to gene: UNC45A.
Mendeliome v1.3992 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573; 35575086; 36699472; 37328071, 39887522; 40125554; 40129845; 32013205
Mendeliome v1.3991 UNC45A Zornitza Stark Publications for gene: UNC45A were set to 29429573
Mendeliome v1.3990 UNC45A Zornitza Stark edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205
Lymphoedema v0.13 Zornitza Stark Copied gene UNC45A from panel Cholestasis
Lymphoedema v0.13 UNC45A Zornitza Stark gene: UNC45A was added
gene: UNC45A was added to Lymphoedema_syndromic. Sources: Expert Review Green,Victorian Clinical Genetics Services
5'UTR tags were added to gene: UNC45A.
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, MIM# 619377; Cholestasis; Diarrhoea; Bone fragility; Impaired hearing
Skeletal dysplasia v0.382 Chirag Patel Copied gene C16orf62 from panel Chondrodysplasia Punctata
Skeletal dysplasia v0.382 C16orf62 Chirag Patel gene: C16orf62 was added
gene: C16orf62 was added to Skeletal dysplasia. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 25434475; 31712251
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome-3 (RTSC3), MIM#619135
Cholestasis v1.5 UNC45A Zornitza Stark Tag 5'UTR tag was added to gene: UNC45A.
Cholestasis v1.5 UNC45A Zornitza Stark edited their review of gene: UNC45A: Added comment: PMIDs 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205 add 33 unrelated families to the previously reviewed three families, bringing the total to 37 unrelated families. Eleven families present with osteo‑oto‑hepato‑enteric (O2HE) syndrome (neonatal cholestasis, intractable diarrhea, bone fragility, sensorineural hearing loss) and carry loss‑of‑function or protein‑unstable missense variants. Functional validation (Western blot, zebrafish morpholino knock‑down, rescue experiments, CRISPR‑KO in Caco‑2/U2OS cells) demonstrates pathogenicity. Twenty‑five families have Aagenaes syndrome (lymphedema‑cholestasis syndrome) caused by a recurrent 5′‑UTR regulatory variant (c.-98G>T) plus loss‑of‑function exonic alleles, with reduced UNC45A expression confirmed in patient blood and CRISPR‑edited cells.; Changed publications: 29429573, 35575086, 36699472, 37328071, 39887522, 40125554, 40129845, 32013205
Skeletal dysplasia v0.381 Chirag Patel Copied gene WBP11 from panel Mendeliome
Skeletal dysplasia v0.381 WBP11 Chirag Patel gene: WBP11 was added
gene: WBP11 was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WBP11 were set to 33276377
Phenotypes for gene: WBP11 were set to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227; malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems
Skeletal dysplasia v0.380 NXN Chirag Patel Marked gene: NXN as ready
Skeletal dysplasia v0.380 NXN Chirag Patel Gene: nxn has been classified as Green List (High Evidence).
Skeletal dysplasia v0.380 Chirag Patel Copied gene NXN from panel Mendeliome
Skeletal dysplasia v0.380 NXN Chirag Patel gene: NXN was added
gene: NXN was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NXN were set to 29276006
Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 618529
Skeletal dysplasia v0.379 MYO18B Chirag Patel Marked gene: MYO18B as ready
Skeletal dysplasia v0.379 MYO18B Chirag Patel Gene: myo18b has been classified as Green List (High Evidence).
Skeletal dysplasia v0.379 Chirag Patel Copied gene MYO18B from panel Mendeliome
Skeletal dysplasia v0.379 MYO18B Chirag Patel gene: MYO18B was added
gene: MYO18B was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO18B were set to 25748484; 27858739; 32637634; 32184166; 27879346
Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, MIM# 616549
Skeletal dysplasia v0.378 ARCN1 Chirag Patel Marked gene: ARCN1 as ready
Skeletal dysplasia v0.378 ARCN1 Chirag Patel Gene: arcn1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.378 DVL2 Chirag Patel Marked gene: DVL2 as ready
Skeletal dysplasia v0.378 DVL2 Chirag Patel Gene: dvl2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3990 Chirag Patel Copied gene KIF24 from panel Skeletal dysplasia
Mendeliome v1.3990 KIF24 Chirag Patel gene: KIF24 was added
gene: KIF24 was added to Mendeliome. Sources: Expert Review Green,Genomics England PanelApp
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related
Skeletal dysplasia v0.378 KIF24 Chirag Patel Marked gene: KIF24 as ready
Skeletal dysplasia v0.378 KIF24 Chirag Patel Gene: kif24 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.378 KIF24 Chirag Patel Classified gene: KIF24 as Green List (high evidence)
Skeletal dysplasia v0.378 KIF24 Chirag Patel Gene: kif24 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.377 KIF24 Chirag Patel gene: KIF24 was added
gene: KIF24 was added to Skeletal dysplasia. Sources: Genomics England PanelApp
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to Skeletal dysplasia MONDO:0018230, KIF24 related
Review for gene: KIF24 was set to GREEN
Added comment: 6 individuals from 3 unrelated families affected by a spectrum of skeletal abnormalities ranging from a lethal fetal skeletal ciliopathy to acromesomelic skeletal dysplasia and a less severe spondylometaphyseal dysplasia. All individuals had different biallelic missense variants in KIF24 which segregated with the phenotype. In vitro studies showed that ciliogenesis and cytokinesis were severely affected in amnioblasts of one affected fetus.
Sources: Genomics England PanelApp
Differences of Sex Development v1.32 STAR Zornitza Stark edited their review of gene: STAR: Added comment: PMID 33966472 reviews 3 previously published cases of heterozygous variants and reports another -- attenuated phenotype.; Changed publications: 7892608, 8634702, 33966472
Mendeliome v1.3989 SCN1A Zornitza Stark Publications for gene: SCN1A were set to 30368457; 12754708; 25754450; 32928894; 29543227
Skeletal dysplasia v0.376 Chirag Patel Copied gene DVL2 from panel Mendeliome
Skeletal dysplasia v0.376 DVL2 Chirag Patel gene: DVL2 was added
gene: DVL2 was added to Skeletal dysplasia. Sources: Expert Review Amber,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
Mendeliome v1.3988 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3987 SCN1A Zornitza Stark edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 29543227, 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.334 SCN1A Zornitza Stark Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.333 SCN1A Zornitza Stark edited their review of gene: SCN1A: Added comment: PMID 40120363 reviews 16 published cases with biallelic variants and reports another 2: 9/18 (50 %) were diagnosed with Dravet syndrome and 6/18 (33 %) with GEFS+. The mean age of seizure onset was 7 months (range 3-19 months). Phenotypes ranged from intact neurodevelopment with controlled epilepsy to profound developmental delay and refractory epilepsy.; Changed publications: 40120363; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.375 Chirag Patel Copied gene ARCN1 from panel Mendeliome
Skeletal dysplasia v0.375 ARCN1 Chirag Patel gene: ARCN1 was added
gene: ARCN1 was added to Skeletal dysplasia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ARCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARCN1 were set to 27476655; 33154040
Phenotypes for gene: ARCN1 were set to Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay (MIM#617164)
Cardiomyopathy_Paediatric v0.215 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6, MIM# 600858 to Cardiomyopathy, hypertrophic 6, MIM# 600858; Glycogen storage disease of heart, lethal congenital, MIM# 261740
Cardiomyopathy_Paediatric v0.214 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200; 37013823; 30681346
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Changed publications: 37013823, 15877279, 17667862, 32646569; Changed phenotypes: Cardiomyopathy, hypertrophic 6, MIM# 600858, Glycogen storage disease of heart, lethal congenital, MIM# 261740; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Marked gene: PRKAG2 as ready
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Gene: prkag2 has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.213 PRKAG2 Zornitza Stark Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, familial hypertrophic 6,; Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; syndromic HCM to Cardiomyopathy, hypertrophic 6, MIM# 600858
Cardiomyopathy_Paediatric v0.212 PRKAG2 Zornitza Stark Publications for gene: PRKAG2 were set to 194200
Cardiomyopathy_Paediatric v0.211 PRKAG2 Zornitza Stark Mode of inheritance for gene: PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark changed review comment from: Can present in adulthood with isolated HCM.; to: Monoallelic variants can present in adulthood with isolated HCM.
Cardiomyopathy_Paediatric v0.210 PRKAG2 Zornitza Stark edited their review of gene: PRKAG2: Added comment: PMID 37013823 reports 3 infants from 2 unrelated families with biallelic truncating PRKAG2 variants presenting with severe neonatal dilated cardiomyopathy, rapid progression to cardiogenic shock and death. Homozygous p.Ile550Asnfs*58 identified in siblings; a 2504 bp exon 11 deletion causing frameshift identified in a third infant. Parents heterozygous and asymptomatic. Zebrafish double knockout model recapitulates reduced ejection fraction, ventricular thickening and atrial fibrillation, supporting loss‑of‑function disease mechanism.; Changed publications: 37013823; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3987 MAPK8IP3 Zornitza Stark Publications for gene: MAPK8IP3 were set to 30612693
Mendeliome v1.3986 MAPK8IP3 Zornitza Stark edited their review of gene: MAPK8IP3: Added comment: PMID 37462082 reports single individual with compound het variants and a severe congenital hypotonia.; Changed publications: 30612693, 30945334, 37462082
Intellectual disability syndromic and non-syndromic v1.556 EMC10 Zornitza Stark Publications for gene: EMC10 were set to PMID: 32869858; 33531666
Intellectual disability syndromic and non-syndromic v1.555 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 33531666, 35684946, 37318954, 40150819
Mendeliome v1.3986 EMC10 Zornitza Stark Publications for gene: EMC10 were set to 32869858
Mendeliome v1.3985 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819
Genetic Epilepsy v1.333 EMC10 Zornitza Stark Publications for gene: EMC10 were set to 32869858; 33531666
Genetic Epilepsy v1.332 EMC10 Zornitza Stark edited their review of gene: EMC10: Added comment: PMIDs 35684946, 37318954, 40150819 report 10 additional unrelated families with loss‑of‑function EMC10 variants; Changed publications: 32869858, 33531666, 35684946, 37318954, 40150819
Genetic Epilepsy v1.332 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Genetic Epilepsy v1.331 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Mendeliome v1.3985 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455; Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Mendeliome v1.3984 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455, Intellectual development disorder with seizures and dysmorphic facies, MIM# 621457
Ataxia v1.186 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456
Ataxia v1.185 UNC13A Zornitza Stark Mode of pathogenicity for gene: UNC13A was changed from to Other
Ataxia v1.184 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456
Intellectual disability syndromic and non-syndromic v1.555 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.554 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.331 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3984 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3983 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Ataxia v1.184 UNC13A Zornitza Stark Marked gene: UNC13A as ready
Ataxia v1.184 UNC13A Zornitza Stark Gene: unc13a has been classified as Green List (High Evidence).
Ataxia v1.184 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455 to neurodevelopmental disorder MONDO#0700092, UNC13A-related
Ataxia v1.183 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.182 UNC13A Zornitza Stark changed review comment from: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; to: PMID 41125872 reports 13 patients (21 months to 32 years old) with pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

GoF proposed.
Ataxia v1.182 UNC13A Zornitza Stark Deleted their comment
Ataxia v1.182 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed mode of pathogenicity: Other
Ataxia v1.182 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ataxia v1.182 Zornitza Stark Copied gene UNC13A from panel Mendeliome
Ataxia v1.182 UNC13A Zornitza Stark gene: UNC13A was added
gene: UNC13A was added to Ataxia. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: UNC13A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UNC13A were set to 27648472; 28192369; 41125872
Phenotypes for gene: UNC13A were set to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.330 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Genetic Epilepsy v1.329 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 28192369
Genetic Epilepsy v1.328 UNC13A Zornitza Stark Mode of inheritance for gene: UNC13A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.554 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.553 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 27648472; 28192369
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed publications: 27648472, 28192369, 41125872
Genetic Epilepsy v1.327 Zornitza Stark Added reviews for gene UNC13A from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v1.552 UNC13A Zornitza Stark edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3983 UNC13A Zornitza Stark Phenotypes for gene: UNC13A were changed from Congenital myasthenia; dyskinesia; autism; developmental delay; neurodevelopmental disorder MONDO#0700092, UNC13A-related to neurodevelopmental disorder MONDO#0700092, UNC13A-related; Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Mendeliome v1.3982 UNC13A Zornitza Stark Publications for gene: UNC13A were set to 27648472; 28192369
Mendeliome v1.3981 UNC13A Zornitza Stark edited their review of gene: UNC13A: Added comment: PMID 41125872 reports 48 individuals with neurodevelopmental disorders and UNC13A variants. Of these, 20 classified as pathogenic. Of these 6 individuals had biallelic variants and presented with severe-to-profound GDD or intellectual disability, hypotonia and seizures of different types (largely controllable with medication) or death in early childhood caused by respiratory failure after pneumonia in one case. Mechanism for this subgroup is LoF with carrier parents unaffected.

A second group of 13 patients (21 months to 32 years old) harboured pathogenic, heterozygous de novo missense variants with multiple substitutions at amino acids 808, 811 and 814 (hinge region). They presented with variable degrees of GDD, hypotonia, seizures of different types (mainly refractory to treatment) and typically exhibited ataxia, tremor or dyskinetic movements rarely observed in other patients.

Also a family identified with at least four affected members across two generations (4 years to 35 years old) harbouring a pathogenic heterozygous missense variant (C587F) that caused learning difficulties to mild–moderate intellectual disability as well as controlled seizures.

Three different types of mechanism of pathogenicity proposed.; Changed rating: GREEN; Changed publications: 27648472, 28192369, 41125872; Changed phenotypes: neurodevelopmental disorder MONDO#0700092, UNC13A-related, Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, MIM# 621455
Intellectual disability syndromic and non-syndromic v1.552 Chirag Patel Copied gene WDR83 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.552 WDR83 Chirag Patel gene: WDR83 was added
gene: WDR83 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR83 were set to 41381792
Phenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related
Mode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mendeliome v1.3981 WDR83 Chirag Patel gene: WDR83 was added
gene: WDR83 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: WDR83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WDR83 were set to 41381792
Phenotypes for gene: WDR83 were set to Neurodevelopmental disorder, MONDO:0700092, WDR83-related
Mode of pathogenicity for gene: WDR83 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: WDR83 was set to RED
Added comment: 1 individual from 1 unrelated family with a de novo heterozygous missense variant (p.L218P) in WDR83 gene. Clinical presentation of a neurodevelopmental disorder characterised by global developmental delay, intellectual disability, growth retardation and dysmorphic facial features. WDR83 encodes a WD‑repeat scaffold protein (MORG1) that regulates MAPK/ERK signalling, HIF‑1α degradation, cell polarity and autophagy.

In vivo, acute expression via in utero electroporation promoted premature cell cycle exit of neural stem cells, impaired cortical neuron migration, and disrupted dendritic arborization, whereas axonal projections to the contralateral hemisphere remained unaffected. Cortical neurons expressing WDR83-L218P exhibited reduced spine head diameter. In vitro, WDR83-L218P expression inhibited axon elongation in primary cultured hippocampal neurons. The variant is suspected to exert a dominant-negative effect.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark Marked gene: DNAH9 as ready
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark Gene: dnah9 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.65 Zornitza Stark Copied gene DNAH9 from panel Ciliary Dyskinesia
Infertility and Recurrent Pregnancy Loss v1.65 DNAH9 Zornitza Stark gene: DNAH9 was added
gene: DNAH9 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DNAH9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAH9 were set to 30471717; 30471718; 33610189; 39523437; 38884051
Phenotypes for gene: DNAH9 were set to Ciliary dyskinesia, primary, 40, MIM# 618300
Ciliary Dyskinesia v1.69 DNAH9 Zornitza Stark Publications for gene: DNAH9 were set to 30471717; 30471718
Ciliary Dyskinesia v1.68 DNAH9 Zornitza Stark edited their review of gene: DNAH9: Added comment: Many families with classic respiratory disease and laterality defects, but also 5 families with severe asthenozoospermia.; Changed publications: 30471717, 30471718, 33610189, 39523437, 38884051
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.374 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to
Skeletal dysplasia v0.373 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Skeletal dysplasia v0.372 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3980 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia to Type 2 collagenopathy MONDO:0022800
Mendeliome v1.3979 COL2A1 Zornitza Stark Publications for gene: COL2A1 were set to 15895462; 17721977; 27234559; 20179744
Mendeliome v1.3978 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3977 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755234; Phenotypes: spondyloepiphyseal dysplasia congenita MONDO:0008471; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark Marked gene: NDUFB7 as ready
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.551 Zornitza Stark Copied gene NDUFB7 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.551 NDUFB7 Zornitza Stark gene: NDUFB7 was added
gene: NDUFB7 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371; 40025060
Phenotypes for gene: NDUFB7 were set to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Mitochondrial disease v1.6 NDUFB7 Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Mitochondrial disease v1.5 NDUFB7 Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence)
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Mitochondrial disease v1.3 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate. Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN; Changed publications: 40025060
Mendeliome v1.3977 NDUFB7 Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371
Mendeliome v1.3976 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Changed publications: 40025060
Mendeliome v1.3976 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence)
Mendeliome v1.3976 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Mendeliome v1.3975 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate.

Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN
Fetal anomalies v1.504 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Fetal anomalies v1.504 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Fetal anomalies v1.503 FIBP Zornitza Stark reviewed gene: FIBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40099975, 37876348, 36919607, 27183861, 26660953; Phenotypes: Thauvin-Robinet-Faivre syndrome, MIM#617107; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.550 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Intellectual disability syndromic and non-syndromic v1.549 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.549 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.548 FIBP Zornitza Stark edited their review of gene: FIBP: Changed rating: GREEN
Intellectual disability syndromic and non-syndromic v1.548 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Overgrowth v1.19 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Overgrowth v1.18 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Overgrowth v1.18 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Overgrowth v1.17 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Macrocephaly_Megalencephaly v0.160 FIBP Zornitza Stark Publications for gene: FIBP were set to 26660953; 27183861
Macrocephaly_Megalencephaly v0.159 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Macrocephaly_Megalencephaly v0.159 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.158 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Mendeliome v1.3975 FIBP Zornitza Stark Classified gene: FIBP as Green List (high evidence)
Mendeliome v1.3975 FIBP Zornitza Stark Gene: fibp has been classified as Green List (High Evidence).
Mendeliome v1.3974 FIBP Zornitza Stark edited their review of gene: FIBP: Added comment: Beyond the two families previously reviewed (PMIDs 26660953; 27183861), four additional studies (PMIDs 36919607, 37218527, 37876348, 40099975) contribute four new unrelated families (total six unrelated families, nine patients) with a consistent autosomal‑recessive overgrowth syndrome. All six families have biallelic loss‑of‑function FIBP variants (nonsense or frameshift leading to NMD). Detailed clinical descriptions include overgrowth, macrocephaly, facial dysmorphism, developmental delay/intellectual disability, renal dysplasia and, in two families, early‑onset tumor predisposition. Segregation analyses confirm recessive inheritance in every case. Functional work (RT‑qPCR, fibroblast proliferation assays, mouse embryonic expression) demonstrates reduced FIBP expression and increased cell proliferation, supporting pathogenicity.; Changed rating: GREEN; Changed publications: 40099975, 37876348, 36919607, 27183861, 26660953
Mendeliome v1.3974 DPH2 Zornitza Stark Classified gene: DPH2 as Green List (high evidence)
Mendeliome v1.3974 DPH2 Zornitza Stark Gene: dph2 has been classified as Green List (High Evidence).
Mendeliome v1.3973 DPH2 Zornitza Stark edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioural issues.; Changed rating: GREEN; Changed publications: 40130534
Intellectual disability syndromic and non-syndromic v1.548 DPH2 Zornitza Stark Publications for gene: DPH2 were set to 32576952; 27421267
Intellectual disability syndromic and non-syndromic v1.547 DPH2 Zornitza Stark Classified gene: DPH2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.547 DPH2 Zornitza Stark Gene: dph2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.546 DPH2 Zornitza Stark edited their review of gene: DPH2: Added comment: Third family reported with biallelic LoF variant c.1429C>T (p.Arg477*) presenting with developmental delay, proportionate short stature, sparse hair, dysmorphic facial features, hypotonia, seizures, neuroimaging abnormalities, and behavioral issues.; Changed rating: GREEN; Changed publications: 40130534
Mendeliome v1.3973 WASHC3 Zornitza Stark Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Mendeliome v1.3972 WASHC3 Zornitza Stark edited their review of gene: WASHC3: Changed publications: 40129681
Intellectual disability syndromic and non-syndromic v1.546 WASHC3 Zornitza Stark Publications for gene: WASHC3 were set to DOI: https://doi.org/10.1016/j.gimo.2024.101915
Intellectual disability syndromic and non-syndromic v1.545 WASHC3 Zornitza Stark edited their review of gene: WASHC3: Changed publications: 40129681
Mendeliome v1.3972 MCM2 Zornitza Stark Publications for gene: MCM2 were set to 26196677
Mendeliome v1.3971 MCM2 Zornitza Stark edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.

Given lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133
Deafness_IsolatedAndComplex v1.315 MCM2 Zornitza Stark Publications for gene: MCM2 were set to 26196677
Deafness_IsolatedAndComplex v1.314 MCM2 Zornitza Stark edited their review of gene: MCM2: Added comment: Three additional families reported with missense variants. However, variants not segregated in two of the individuals; the variants reported in 35652205 was inherited from a mildly affected parent. The reported variants are present in gnomAD.

Given lack of additional supporting evidence and gnomAD frequencies, retain RED rating.; Changed publications: 26196677, 35652205, 40069133; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Genetic Epilepsy v1.326 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Cataract v0.533 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Cataract v0.533 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.545 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.545 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Genetic Epilepsy v1.326 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Genetic Epilepsy v1.326 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Deafness_IsolatedAndComplex v1.314 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Deafness_IsolatedAndComplex v1.314 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Cataract v0.533 Zornitza Stark Copied gene SEC24C from panel Mendeliome
Cataract v0.533 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Mendeliome v1.3971 SEC24C Zornitza Stark Marked gene: SEC24C as ready
Mendeliome v1.3971 SEC24C Zornitza Stark Gene: sec24c has been classified as Red List (Low Evidence).
Mendeliome v1.3971 SEC24C Zornitza Stark gene: SEC24C was added
gene: SEC24C was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SEC24C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEC24C were set to 40131364
Phenotypes for gene: SEC24C were set to Neurodevelopmental disorder, MONDO:0700092, SEC24C-related
Review for gene: SEC24C was set to RED
Added comment: PMID 40131364 reports 4 individuals from a consanguineous Turkish family with biallelic loss-of-function frameshift c.333del (p.Ser112Profs*115) variant presenting with neonatal‑onset severe syndromic epileptic encephalopathy, congenital cataracts, primary microcephaly, macrocytic anaemia, sensorineural hearing loss, liver dysfunction and dysmorphic facial features. The variant segregates with autosomal recessive inheritance and functional studies in patient fibroblasts and zebrafish knockouts demonstrate >90% loss of SEC24C expression, impaired ER‑Golgi trafficking and recapitulation of cataract and neurodevelopmental phenotypes.
Sources: Literature
Mendeliome v1.3970 ARAF Zornitza Stark Marked gene: ARAF as ready
Mendeliome v1.3970 ARAF Zornitza Stark Gene: araf has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3970 Zornitza Stark Copied gene ARAF from panel Lymphoedema_nonsyndromic
Mendeliome v1.3970 ARAF Zornitza Stark gene: ARAF was added
gene: ARAF was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ARAF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ARAF were set to 31263281
Phenotypes for gene: ARAF were set to Lymphatic malformation, MONDO:0019313, ARAF-related
Mode of pathogenicity for gene: ARAF was set to Other
Intellectual disability syndromic and non-syndromic v1.544 CAMK2G Elena Savva Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59 MIM# 618522
Mendeliome v1.3969 CAMK2G Elena Savva Phenotypes for gene: CAMK2G were changed from Mental retardation, autosomal dominant 59, MIM# 618522 to Intellectual developmental disorder, autosomal dominant 59 MIM# 618522
Monogenic Diabetes v0.157 CEL Seb Lunke Publications for gene: CEL were set to 19760265; 21784842; 27650499; 18544793; 17989309; 24062244; 16369531; 25160620
Mendeliome v1.3968 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from Other to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.156 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Monogenic Diabetes v0.155 CEL Seb Lunke Classified gene: CEL as Green List (high evidence)
Monogenic Diabetes v0.155 CEL Seb Lunke Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.
Monogenic Diabetes v0.155 CEL Seb Lunke Gene: cel has been classified as Green List (High Evidence).
Monogenic Diabetes v0.154 CEL Seb Lunke Tag technically challenging tag was added to gene: CEL.
Monogenic Diabetes v0.154 Seb Lunke Added reviews for gene CEL from panel Maturity-onset Diabetes of the Young
Mendeliome v1.3967 CEL Seb Lunke Tag technically challenging tag was added to gene: CEL.
Mendeliome v1.3967 CEL Seb Lunke Added comment: Comment on mode of pathogenicity: Dominant Negative Gain-of-Function experimentally established
Mendeliome v1.3967 CEL Seb Lunke Mode of pathogenicity for gene: CEL was changed from to Other
Mendeliome v1.3966 CEL Seb Lunke Publications for gene: CEL were set to 24062244; 21784842; 19760265; 18544793; 17989309; 16369531; 29233499; 27650499
Mendeliome v1.3965 CEL Seb Lunke Classified gene: CEL as Green List (high evidence)
Mendeliome v1.3965 CEL Seb Lunke Added comment: Comment on list classification: Remains technically challenging but most of critical region (First 5 repeats of exon 11 VNTR) are callable on short read data.
Mendeliome v1.3965 CEL Seb Lunke Gene: cel has been classified as Green List (High Evidence).
Monogenic Diabetes v0.153 CEL Seb Lunke Deleted their review
Mendeliome v1.3964 Seb Lunke Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+
Monogenic Diabetes v0.153 Seb Lunke Added reviews for gene CEL from panel Genomic screening in children: BabyScreen+
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark Marked gene: APBB1 as ready
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.64 Zornitza Stark Copied gene APBB1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.64 APBB1 Zornitza Stark gene: APBB1 was added
gene: APBB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APBB1 were set to 40151319
Phenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related
Mendeliome v1.3963 APBB1 Zornitza Stark Marked gene: APBB1 as ready
Mendeliome v1.3963 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3963 APBB1 Zornitza Stark Classified gene: APBB1 as Amber List (moderate evidence)
Mendeliome v1.3963 APBB1 Zornitza Stark Gene: apbb1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3962 APBB1 Zornitza Stark gene: APBB1 was added
gene: APBB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: APBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: APBB1 were set to 40151319
Phenotypes for gene: APBB1 were set to Infertility disorder, MONDO:0005047, APBB1-related
Review for gene: APBB1 was set to AMBER
Added comment: PMID 40151319 reports 9 individuals from 9 unrelated families with heterozygous variants (missense, nonsense, frameshift) in APBB1 presenting with non‑obstructive azoospermia (NOA). The study provides mouse conditional knockout and human spermatogonial stem cell knock‑down functional data supporting a role for APBB1 loss of function in spermatogenic failure. Missing segregation data and at least 2 of the reported variants are present at high frequencies in gnomAD.
Sources: Literature
Leukodystrophy v0.388 Bryony Thompson Panel name changed from Leukodystrophy - paediatric to Leukodystrophy
Leukodystrophy v0.387 Bryony Thompson Copied STR PRNP_CJD_octapeptide from panel Leukodystrophy - adult onset
Leukodystrophy v0.387 PRNP_CJD_octapeptide Bryony Thompson STR: PRNP_CJD_octapeptide was added
STR: PRNP_CJD_octapeptide was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: PRNP_CJD_octapeptide was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PRNP_CJD_octapeptide were set to 2159587; 20301407
Phenotypes for STR: PRNP_CJD_octapeptide were set to Creutzfeldt-Jakob disease MIM#123400; Gerstmann-Straussler disease MIM#137440
Leukodystrophy v0.386 Bryony Thompson Copied STR NOTCH2NLC_NIID_GGC from panel Leukodystrophy - adult onset
Leukodystrophy v0.386 NOTCH2NLC_NIID_GGC Bryony Thompson STR: NOTCH2NLC_NIID_GGC was added
STR: NOTCH2NLC_NIID_GGC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: NOTCH2NLC_NIID_GGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NOTCH2NLC_NIID_GGC were set to 31178126; 31332381; 31819945; 33887199; 33943039; 32250060; 31332380; 32852534; 32989102; 34333668
Phenotypes for STR: NOTCH2NLC_NIID_GGC were set to Neuronal intranuclear inclusion disease MIM#603472; Oculopharyngodistal myopathy 3 MIM#619473; Tremor, hereditary essential, 6 MIM#618866
Leukodystrophy v0.385 Bryony Thompson Copied STR C9orf72_FTDALS_GGGGCC from panel Leukodystrophy - adult onset
Leukodystrophy v0.385 C9orf72_FTDALS_GGGGCC Bryony Thompson STR: C9orf72_FTDALS_GGGGCC was added
STR: C9orf72_FTDALS_GGGGCC was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for STR: C9orf72_FTDALS_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: C9orf72_FTDALS_GGGGCC were set to 36970046; 36632182
Phenotypes for STR: C9orf72_FTDALS_GGGGCC were set to frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MONDO:0007105
Penetrance for STR: C9orf72_FTDALS_GGGGCC were set to Incomplete
Leukodystrophy v0.384 Bryony Thompson Copied gene ZNF319 from panel Leukodystrophy - adult onset
Leukodystrophy v0.384 ZNF319 Bryony Thompson gene: ZNF319 was added
gene: ZNF319 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: ZNF319 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF319 were set to 40820230
Phenotypes for gene: ZNF319 were set to Leukodystrophy, MONDO:0019046, ZNF319-related
Leukodystrophy v0.383 Bryony Thompson Copied gene UNC13D from panel Leukodystrophy - adult onset
Leukodystrophy v0.383 UNC13D Bryony Thompson gene: UNC13D was added
gene: UNC13D was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3 608898
Leukodystrophy v0.382 Bryony Thompson Copied gene TYROBP from panel Leukodystrophy - adult onset
Leukodystrophy v0.382 TYROBP Bryony Thompson gene: TYROBP was added
gene: TYROBP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770
Leukodystrophy v0.381 Bryony Thompson Copied gene TREM2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.381 TREM2 Bryony Thompson gene: TREM2 was added
gene: TREM2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TREM2 were set to 12080485; 15883308
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193
Leukodystrophy v0.380 Bryony Thompson Copied gene TPP2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.380 TPP2 Bryony Thompson gene: TPP2 was added
gene: TPP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: TPP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPP2 were set to 25414442
Phenotypes for gene: TPP2 were set to Immunodeficiency 78 with autoimmunity and developmental delay, MIM# 619220
Leukodystrophy v0.379 Bryony Thompson Copied gene STXBP2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.379 STXBP2 Bryony Thompson gene: STXBP2 was added
gene: STXBP2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5 613101
Leukodystrophy v0.378 Bryony Thompson Copied gene SPG7 from panel Leukodystrophy - adult onset
Leukodystrophy v0.378 SPG7 Bryony Thompson gene: SPG7 was added
gene: SPG7 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 20108356; 17646629
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive 607259
Leukodystrophy v0.377 Bryony Thompson Copied gene SPG21 from panel Leukodystrophy - adult onset
Leukodystrophy v0.377 SPG21 Bryony Thompson gene: SPG21 was added
gene: SPG21 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Expert list
new gene name tags were added to gene: SPG21.
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to 14564668
Phenotypes for gene: SPG21 were set to Mast syndrome 248900
Leukodystrophy v0.376 Bryony Thompson Copied gene SPAST from panel Leukodystrophy - adult onset
Leukodystrophy v0.376 SPAST Bryony Thompson gene: SPAST was added
gene: SPAST was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to 23968121
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant 182601
Leukodystrophy v0.375 Bryony Thompson Copied gene RPS6KA3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.375 RPS6KA3 Bryony Thompson gene: RPS6KA3 was added
gene: RPS6KA3 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RPS6KA3 were set to 16691578
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome, 303600
Leukodystrophy v0.374 Bryony Thompson Copied gene RNF216 from panel Leukodystrophy - adult onset
Leukodystrophy v0.374 RNF216 Bryony Thompson gene: RNF216 was added
gene: RNF216 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF216 were set to 28334938; 26250479
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Leukodystrophy v0.373 Bryony Thompson Copied gene PSEN2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.373 PSEN2 Bryony Thompson gene: PSEN2 was added
gene: PSEN2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 36845656
Phenotypes for gene: PSEN2 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Mode of pathogenicity for gene: PSEN2 was set to Other
Leukodystrophy v0.372 Bryony Thompson Copied gene PSEN1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.372 PSEN1 Bryony Thompson gene: PSEN1 was added
gene: PSEN1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 36845656
Phenotypes for gene: PSEN1 were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Mode of pathogenicity for gene: PSEN1 was set to Other
Leukodystrophy v0.371 Bryony Thompson Copied gene PRNP from panel Leukodystrophy - adult onset
Leukodystrophy v0.371 PRNP Bryony Thompson gene: PRNP was added
gene: PRNP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRNP were set to 25220284; 24252267
Phenotypes for gene: PRNP were set to fatal familial insomnia MONDO:0010808
Mode of pathogenicity for gene: PRNP was set to Other
Leukodystrophy v0.370 Bryony Thompson Copied gene POLG2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.370 POLG2 Bryony Thompson gene: POLG2 was added
gene: POLG2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POLG2 were set to 25655951
Phenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 610131
Leukodystrophy v0.369 Bryony Thompson Copied gene PLD3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.369 PLD3 Bryony Thompson gene: PLD3 was added
gene: PLD3 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PLD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLD3 were set to PMID: 34267643
Phenotypes for gene: PLD3 were set to Leukodystrophy
Leukodystrophy v0.368 Bryony Thompson Copied gene PAH from panel Leukodystrophy - adult onset
Leukodystrophy v0.368 PAH Bryony Thompson gene: PAH was added
gene: PAH was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
treatable tags were added to gene: PAH.
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 31636599; 32141105
Phenotypes for gene: PAH were set to Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600
Leukodystrophy v0.367 Bryony Thompson Copied gene NPC2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.367 NPC2 Bryony Thompson gene: NPC2 was added
gene: NPC2 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 25396745
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 607625
Leukodystrophy v0.366 Bryony Thompson Copied gene NOTCH3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.366 NOTCH3 Bryony Thompson gene: NOTCH3 was added
gene: NOTCH3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: NOTCH3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: NOTCH3 were set to neurodevelopmental disorder MONDO:0700092, NOTCH3-related; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 MIM#125310
Leukodystrophy v0.365 Bryony Thompson Copied gene MTHFR from panel Leukodystrophy - adult onset
Leukodystrophy v0.365 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 29391032
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250
Leukodystrophy v0.364 Bryony Thompson Copied gene MARS from panel Leukodystrophy - adult onset
Leukodystrophy v0.364 MARS Bryony Thompson gene: MARS was added
gene: MARS was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: MARS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MARS were set to Charcot-Marie-Tooth disease, axonal, type 2U, 616280
Leukodystrophy v0.363 Bryony Thompson Copied gene MAPT from panel Leukodystrophy - adult onset
Leukodystrophy v0.363 MAPT Bryony Thompson gene: MAPT was added
gene: MAPT was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPT were set to 33802612; 36970046
Phenotypes for gene: MAPT were set to semantic dementia MONDO:0010857
Mode of pathogenicity for gene: MAPT was set to Other
Leukodystrophy v0.362 Bryony Thompson Copied gene MAN2B1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.362 MAN2B1 Bryony Thompson gene: MAN2B1 was added
gene: MAN2B1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, MIM#248500
Leukodystrophy v0.361 Bryony Thompson Copied gene LMNB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.361 LMNB1 Bryony Thompson gene: LMNB1 was added
gene: LMNB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital,Australian Genomcis Health Alliance Leukodystrophy Flagship,Victorian Clinical Genetics Services
SV/CNV tags were added to gene: LMNB1.
Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LMNB1 were set to 16951681; 30842973
Phenotypes for gene: LMNB1 were set to Leukodystrophy, adult-onset, autosomal dominant, MIM# 169500; Leukodystrophy, demyelinating, adult-onset, autosomal dominan, atypical, MIM#621061
Leukodystrophy v0.360 Bryony Thompson Copied gene LARS2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.360 LARS2 Bryony Thompson gene: LARS2 was added
gene: LARS2 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS2 were set to 32442335; 30737337
Phenotypes for gene: LARS2 were set to Leukodystrophy
Leukodystrophy v0.359 LAMB1 Bryony Thompson Publications for gene: LAMB1 were set to 29888467; 25925986
Leukodystrophy v0.358 LAMB1 Bryony Thompson Mode of inheritance for gene: LAMB1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Leukodystrophy v0.357 LAMB1 Bryony Thompson Classified gene: LAMB1 as Green List (high evidence)
Leukodystrophy v0.357 LAMB1 Bryony Thompson Gene: lamb1 has been classified as Green List (High Evidence).
Leukodystrophy v0.356 Bryony Thompson Added reviews for gene LAMB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.355 Bryony Thompson Copied gene ITM2B from panel Leukodystrophy - adult onset
Leukodystrophy v0.355 ITM2B Bryony Thompson gene: ITM2B was added
gene: ITM2B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Other
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ITM2B were set to 10775542
Phenotypes for gene: ITM2B were set to ABri amyloidosis MONDO:0008306
Mode of pathogenicity for gene: ITM2B was set to Other
Leukodystrophy v0.354 Bryony Thompson Copied gene HTRA1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.354 HTRA1 Bryony Thompson gene: HTRA1 was added
gene: HTRA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: HTRA1 were set to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; CARASIL syndrome, 600142
Leukodystrophy v0.353 Bryony Thompson Copied gene GRN from panel Leukodystrophy - adult onset
Leukodystrophy v0.353 GRN Bryony Thompson gene: GRN was added
gene: GRN was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRN were set to 36970046; 36632182
Phenotypes for gene: GRN were set to GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842
Leukodystrophy v0.352 Bryony Thompson Copied gene GLA from panel Leukodystrophy - adult onset
Leukodystrophy v0.352 GLA Bryony Thompson gene: GLA was added
gene: GLA was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, Fabry disease, cardiac variant, 301500
Leukodystrophy v0.351 Bryony Thompson Copied gene GJB1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.351 GJB1 Bryony Thompson gene: GJB1 was added
gene: GJB1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GJB1 were set to 31842800
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Reversible posterior leukoencephalopathy
Leukodystrophy v0.350 Bryony Thompson Copied gene GJA1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.350 GJA1 Bryony Thompson gene: GJA1 was added
gene: GJA1 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: GJA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GJA1 were set to 31023660
Phenotypes for gene: GJA1 were set to Hereditary spastic paraplegia; Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850
Leukodystrophy v0.349 Bryony Thompson Copied gene GCDH from panel Leukodystrophy - adult onset
Leukodystrophy v0.349 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Royal Melbourne Hospital
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaric aciduria, type I, MIM#231670
Leukodystrophy v0.348 Bryony Thompson Copied gene GBE1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.348 GBE1 Bryony Thompson gene: GBE1 was added
gene: GBE1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Polyglucosan body disease, adult form, 263570
Leukodystrophy v0.347 Bryony Thompson Copied gene GAN from panel Leukodystrophy - adult onset
Leukodystrophy v0.347 GAN Bryony Thompson gene: GAN was added
gene: GAN was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, MIM#256850
Leukodystrophy v0.346 Bryony Thompson Copied gene CYP27A1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.346 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700
Leukodystrophy v0.345 Bryony Thompson Copied gene CTSA from panel Leukodystrophy - adult onset
Leukodystrophy v0.345 CTSA Bryony Thompson gene: CTSA was added
gene: CTSA was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTSA were set to 31177426
Phenotypes for gene: CTSA were set to Brain small vessel disease 6 with leukoencephalopathy, MIM# 621394
Leukodystrophy v0.344 Bryony Thompson Copied gene CST3 from panel Leukodystrophy - adult onset
Leukodystrophy v0.344 CST3 Bryony Thompson gene: CST3 was added
gene: CST3 was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CST3 were set to 38489591
Phenotypes for gene: CST3 were set to Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy, MIM#621214
Leukodystrophy v0.343 Bryony Thompson Copied gene CSF1R from panel Leukodystrophy - adult onset
Leukodystrophy v0.343 CSF1R Bryony Thompson gene: CSF1R was added
gene: CSF1R was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CSF1R were set to Leukoencephalopathy, diffuse hereditary, with spheroids, 221820
Leukodystrophy v0.342 Bryony Thompson Copied gene COL4A2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.342 COL4A2 Bryony Thompson gene: COL4A2 was added
gene: COL4A2 was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Royal Melbourne Hospital
Mode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A2 were set to 30413629; 27624120; 24390199
Phenotypes for gene: COL4A2 were set to Brain small vessel disease 2, 614483
Leukodystrophy v0.341 Bryony Thompson Copied gene COL4A1 from panel Leukodystrophy - adult onset
Leukodystrophy v0.341 COL4A1 Bryony Thompson gene: COL4A1 was added
gene: COL4A1 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780
Leukodystrophy v0.340 Bryony Thompson Copied gene C1R from panel Leukodystrophy - adult onset
Leukodystrophy v0.340 C1R Bryony Thompson gene: C1R was added
gene: C1R was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other,Literature
Mode of inheritance for gene: C1R was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: C1R were set to 8958339; 30535813
Phenotypes for gene: C1R were set to Ehlers-Danlos syndrome, periodontal type, 1 (MIM# 130080); Leukodystrophy - adult onset
Penetrance for gene: C1R were set to unknown
Mode of pathogenicity for gene: C1R was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Leukodystrophy v0.339 Bryony Thompson Copied gene ATP7B from panel Leukodystrophy - adult onset
Leukodystrophy v0.339 ATP7B Bryony Thompson gene: ATP7B was added
gene: ATP7B was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 16966556; 12020274
Phenotypes for gene: ATP7B were set to Wilson disease, 277900
Leukodystrophy v0.338 Bryony Thompson Copied gene APP from panel Leukodystrophy - adult onset
Leukodystrophy v0.338 APP Bryony Thompson gene: APP was added
gene: APP was added to Leukodystrophy - paediatric. Sources: Expert Review Green,Other
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 36845656
Phenotypes for gene: APP were set to early-onset autosomal dominant Alzheimer disease MONDO:0015140
Leukodystrophy v0.337 Bryony Thompson Copied gene ANXA11 from panel Leukodystrophy - adult onset
Leukodystrophy v0.337 ANXA11 Bryony Thompson gene: ANXA11 was added
gene: ANXA11 was added to Leukodystrophy - paediatric. Sources: Expert Review Amber,Expert Review
founder tags were added to gene: ANXA11.
Mode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANXA11 were set to 34048612
Phenotypes for gene: ANXA11 were set to Inclusion body myopathy and brain white matter abnormalities, MIM# 619733
Leukodystrophy v0.336 Bryony Thompson Copied gene AARS2 from panel Leukodystrophy - adult onset
Leukodystrophy v0.336 AARS2 Bryony Thompson gene: AARS2 was added
gene: AARS2 was added to Leukodystrophy - paediatric. Sources: Royal Melbourne Hospital,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Leukoencephalopathy, progressive, with ovarian failure, 615889
Mendeliome v1.3961 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Mendeliome v1.3961 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Intellectual disability syndromic and non-syndromic v1.543 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Intellectual disability syndromic and non-syndromic v1.543 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Holoprosencephaly and septo-optic dysplasia v1.22 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Holoprosencephaly and septo-optic dysplasia v1.22 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Holoprosencephaly and septo-optic dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Fetal anomalies v1.503 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Fetal anomalies v1.503 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Clefting disorders v0.301 Bryony Thompson Copied STR ZIC2_HPE5_GCN from panel Repeat Disorders
Clefting disorders v0.301 ZIC2_HPE5_GCN Bryony Thompson STR: ZIC2_HPE5_GCN was added
STR: ZIC2_HPE5_GCN was added to Clefting disorders. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: ZIC2_HPE5_GCN.
Mode of inheritance for STR: ZIC2_HPE5_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ZIC2_HPE5_GCN were set to 11285244; 33811808
Phenotypes for STR: ZIC2_HPE5_GCN were set to Holoprosencephaly 5 MIM#609637
Mendeliome v1.3960 Bryony Thompson Copied STR XYLT1_DBQD2_GGC from panel Repeat Disorders
Mendeliome v1.3960 XYLT1_DBQD2_GGC Bryony Thompson STR: XYLT1_DBQD2_GGC was added
STR: XYLT1_DBQD2_GGC was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: XYLT1_DBQD2_GGC.
Mode of inheritance for STR: XYLT1_DBQD2_GGC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: XYLT1_DBQD2_GGC were set to 30554721
Phenotypes for STR: XYLT1_DBQD2_GGC were set to Desbuquois dysplasia 2 MIM#615777
Mendeliome v1.3959 Bryony Thompson Copied STR VWA1_HMNMYO_GCGCGGAGCG from panel Repeat Disorders
Mendeliome v1.3959 VWA1_HMNMYO_GCGCGGAGCG Bryony Thompson STR: VWA1_HMNMYO_GCGCGGAGCG was added
STR: VWA1_HMNMYO_GCGCGGAGCG was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: VWA1_HMNMYO_GCGCGGAGCG.
Mode of inheritance for STR: VWA1_HMNMYO_GCGCGGAGCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: VWA1_HMNMYO_GCGCGGAGCG were set to 33559681; 33459760
Phenotypes for STR: VWA1_HMNMYO_GCGCGGAGCG were set to Neuropathy, hereditary motor, with myopathic features MIM#619216
Mendeliome v1.3958 Bryony Thompson Copied STR TCF4_FECD3_CTG from panel Repeat Disorders
Mendeliome v1.3958 TCF4_FECD3_CTG Bryony Thompson STR: TCF4_FECD3_CTG was added
STR: TCF4_FECD3_CTG was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: TCF4_FECD3_CTG.
Mode of inheritance for STR: TCF4_FECD3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TCF4_FECD3_CTG were set to 25722209; 24255041
Phenotypes for STR: TCF4_FECD3_CTG were set to Corneal dystrophy, Fuchs endothelial, 3 MIM#613267
Mendeliome v1.3957 Bryony Thompson Copied STR TBX1_TOF_GCN from panel Repeat Disorders
Mendeliome v1.3957 TBX1_TOF_GCN Bryony Thompson STR: TBX1_TOF_GCN was added
STR: TBX1_TOF_GCN was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: TBX1_TOF_GCN.
Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311
Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500
Congenital Heart Defect v0.517 Bryony Thompson Copied STR TBX1_TOF_GCN from panel Repeat Disorders
Congenital Heart Defect v0.517 TBX1_TOF_GCN Bryony Thompson STR: TBX1_TOF_GCN was added
STR: TBX1_TOF_GCN was added to Congenital Heart Defect. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: TBX1_TOF_GCN.
Mode of inheritance for STR: TBX1_TOF_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: TBX1_TOF_GCN were set to 19948535; 11748311
Phenotypes for STR: TBX1_TOF_GCN were set to Tetralogy of Fallot MIM#187500
Mendeliome v1.3956 Bryony Thompson Copied STR TAF1_XDP_CCCTCT from panel Repeat Disorders
Mendeliome v1.3956 TAF1_XDP_CCCTCT Bryony Thompson STR: TAF1_XDP_CCCTCT was added
STR: TAF1_XDP_CCCTCT was added to Mendeliome. Sources: Expert Review Green,Expert list
founder, adult-onset tags were added to STR: TAF1_XDP_CCCTCT.
Mode of inheritance for STR: TAF1_XDP_CCCTCT was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: TAF1_XDP_CCCTCT were set to 17273961; 29229810
Phenotypes for STR: TAF1_XDP_CCCTCT were set to Dystonia-Parkinsonism, X-linked MIM#314250
Pituitary hormone deficiency v0.170 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Pituitary hormone deficiency v0.170 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Pituitary hormone deficiency. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Mendeliome v1.3955 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Mendeliome v1.3955 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Congenital hypothyroidism v0.78 Bryony Thompson Copied STR SOX3_PHPX_GCN from panel Repeat Disorders
Congenital hypothyroidism v0.78 SOX3_PHPX_GCN Bryony Thompson STR: SOX3_PHPX_GCN was added
STR: SOX3_PHPX_GCN was added to Congenital hypothyroidism. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: SOX3_PHPX_GCN.
Mode of inheritance for STR: SOX3_PHPX_GCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for STR: SOX3_PHPX_GCN were set to 12428212; 15800844; 33811808; 23505376; 19654509
Phenotypes for STR: SOX3_PHPX_GCN were set to Intellectual disability, X-linked, with isolated growth hormone deficiency MIM#300123; Panhypopituitarism, X-linked MIM#312000
Pain syndromes v0.37 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Pain syndromes v0.37 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Pain syndromes. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Mendeliome v1.3954 Bryony Thompson Copied STR PRDM12_HSAN8_GCC from panel Repeat Disorders
Mendeliome v1.3954 PRDM12_HSAN8_GCC Bryony Thompson STR: PRDM12_HSAN8_GCC was added
STR: PRDM12_HSAN8_GCC was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: PRDM12_HSAN8_GCC.
Mode of inheritance for STR: PRDM12_HSAN8_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: PRDM12_HSAN8_GCC were set to 26005867
Phenotypes for STR: PRDM12_HSAN8_GCC were set to Neuropathy, hereditary sensory and autonomic, type VIII MIM#616488
Pulmonary Fibrosis_Interstitial Lung Disease v1.1 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Pulmonary Fibrosis_Interstitial Lung Disease v1.1 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Mendeliome v1.3953 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Mendeliome v1.3953 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Hirschsprung disease v0.28 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Hirschsprung disease v0.28 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Hirschsprung disease. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Fetal anomalies v1.502 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Fetal anomalies v1.502 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Central Hypoventilation v1.7 Bryony Thompson Copied STR PHOX2B_CCHS_GCN from panel Repeat Disorders
Central Hypoventilation v1.7 PHOX2B_CCHS_GCN Bryony Thompson STR: PHOX2B_CCHS_GCN was added
STR: PHOX2B_CCHS_GCN was added to Central Hypoventilation. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: PHOX2B_CCHS_GCN.
Mode of inheritance for STR: PHOX2B_CCHS_GCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PHOX2B_CCHS_GCN were set to 12640453; 34012823; 20301600; 18798833
Phenotypes for STR: PHOX2B_CCHS_GCN were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Mendeliome v1.3952 Bryony Thompson Copied STR PABPN1_OPMD_GCN from panel Repeat Disorders
Mendeliome v1.3952 PABPN1_OPMD_GCN Bryony Thompson STR: PABPN1_OPMD_GCN was added
STR: PABPN1_OPMD_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: PABPN1_OPMD_GCN.
Mode of inheritance for STR: PABPN1_OPMD_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: PABPN1_OPMD_GCN were set to 9462747; 20301305
Phenotypes for STR: PABPN1_OPMD_GCN were set to Oculopharyngeal muscular dystrophy MIM#164300
Mendeliome v1.3951 Bryony Thompson Copied STR NUTM2B-AS1_OPDM_CCG from panel Repeat Disorders
Mendeliome v1.3951 NUTM2B-AS1_OPDM_CCG Bryony Thompson STR: NUTM2B-AS1_OPDM_CCG was added
STR: NUTM2B-AS1_OPDM_CCG was added to Mendeliome. Sources: Expert Review Green,Literature
adult-onset tags were added to STR: NUTM2B-AS1_OPDM_CCG.
Mode of inheritance for STR: NUTM2B-AS1_OPDM_CCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: NUTM2B-AS1_OPDM_CCG were set to 31332380
Phenotypes for STR: NUTM2B-AS1_OPDM_CCG were set to Oculopharyngeal myopathy with leukoencephalopathy 1 MIM#618637
Mendeliome v1.3950 Bryony Thompson Copied STR LRP12_OPDM1_CGG from panel Repeat Disorders
Mendeliome v1.3950 LRP12_OPDM1_CGG Bryony Thompson STR: LRP12_OPDM1_CGG was added
STR: LRP12_OPDM1_CGG was added to Mendeliome. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: LRP12_OPDM1_CGG.
Mode of inheritance for STR: LRP12_OPDM1_CGG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: LRP12_OPDM1_CGG were set to 31332380; 34047774; 37339631
Phenotypes for STR: LRP12_OPDM1_CGG were set to Oculopharyngodistal myopathy 1 MIM#164310; Amyotrophic lateral sclerosis MONDO:0004976
Skeletal dysplasia v0.372 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Skeletal dysplasia v0.372 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Polydactyly v0.299 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Polydactyly v0.299 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Polydactyly. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Mendeliome v1.3949 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Mendeliome v1.3949 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Hand and foot malformations v0.81 Bryony Thompson Copied STR HOXD13_SPD1_GCG from panel Repeat Disorders
Hand and foot malformations v0.81 HOXD13_SPD1_GCG Bryony Thompson STR: HOXD13_SPD1_GCG was added
STR: HOXD13_SPD1_GCG was added to Hand and foot malformations. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXD13_SPD1_GCG.
Mode of inheritance for STR: HOXD13_SPD1_GCG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXD13_SPD1_GCG were set to 8817328; 33811808; 33533119
Phenotypes for STR: HOXD13_SPD1_GCG were set to Synpolydactyly 1 MIM#186000
Skeletal dysplasia v0.371 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Skeletal dysplasia v0.371 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Skeletal dysplasia. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Radial Ray Abnormalities v1.20 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Radial Ray Abnormalities v1.20 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Radial Ray Abnormalities. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Polydactyly v0.298 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Polydactyly v0.298 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Polydactyly. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Mendeliome v1.3948 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Mendeliome v1.3948 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Fetal anomalies v1.501 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Fetal anomalies v1.501 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Differences of Sex Development v1.32 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Differences of Sex Development v1.32 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Differences of Sex Development. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.161 Bryony Thompson Copied STR HOXA13_HFGS_GCN3 from panel Repeat Disorders
Congenital anomalies of the kidney and urinary tract (CAKUT) v0.161 HOXA13_HFGS_GCN3 Bryony Thompson STR: HOXA13_HFGS_GCN3 was added
STR: HOXA13_HFGS_GCN3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: HOXA13_HFGS_GCN3.
Mode of inheritance for STR: HOXA13_HFGS_GCN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: HOXA13_HFGS_GCN3 were set to 10839976; 12073020; 33811808
Phenotypes for STR: HOXA13_HFGS_GCN3 were set to Hand-foot-uterus syndrome MIM#140000
Mendeliome v1.3947 Bryony Thompson Copied STR GLS_GDPAG_GCA from panel Repeat Disorders
Mendeliome v1.3947 GLS_GDPAG_GCA Bryony Thompson STR: GLS_GDPAG_GCA was added
STR: GLS_GDPAG_GCA was added to Mendeliome. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: GLS_GDPAG_GCA.
Mode of inheritance for STR: GLS_GDPAG_GCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS_GDPAG_GCA were set to 30970188
Phenotypes for STR: GLS_GDPAG_GCA were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Mendeliome v1.3946 Bryony Thompson Copied STR FXN_FRDA_GAA from panel Repeat Disorders
Mendeliome v1.3946 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Deafness_IsolatedAndComplex v1.313 Bryony Thompson Copied STR FXN_FRDA_GAA from panel Repeat Disorders
Deafness_IsolatedAndComplex v1.313 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FXN_FRDA_GAA.
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Mendeliome v1.3945 Bryony Thompson Copied STR FOXL2_BPES_GCN from panel Repeat Disorders
Mendeliome v1.3945 FOXL2_BPES_GCN Bryony Thompson STR: FOXL2_BPES_GCN was added
STR: FOXL2_BPES_GCN was added to Mendeliome. Sources: Expert Review Green,Expert list
paediatric-onset tags were added to STR: FOXL2_BPES_GCN.
Mode of inheritance for STR: FOXL2_BPES_GCN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for STR: FOXL2_BPES_GCN were set to 11468277; 33811808
Phenotypes for STR: FOXL2_BPES_GCN were set to Blepharophimosis, epicanthus inversus, and ptosis type 1 and 2 MIM#110100; Premature ovarian failure 3 MIM#608996
Skeletal Muscle Channelopathies v1.3 Bryony Thompson Copied STR DMPK_DM1_CTG from panel Repeat Disorders
Skeletal Muscle Channelopathies v1.3 DMPK_DM1_CTG Bryony Thompson STR: DMPK_DM1_CTG was added
STR: DMPK_DM1_CTG was added to Skeletal Muscle Channelopathies. Sources: Expert Review Green,Expert list
adult-onset, paediatric-onset tags were added to STR: DMPK_DM1_CTG.
Mode of inheritance for STR: DMPK_DM1_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: DMPK_DM1_CTG were set to 20301344; 29325606; 1546325
Phenotypes for STR: DMPK_DM1_CTG were set to Myotonic dystrophy 1 MIM#160900
Skeletal dysplasia v0.370 Bryony Thompson Copied STR COMP_MEDPSACH_GAC from panel Repeat Disorders
Skeletal dysplasia v0.370 COMP_MEDPSACH_GAC Bryony Thompson STR: COMP_MEDPSACH_GAC was added
STR: COMP_MEDPSACH_GAC was added to Skeletal dysplasia. Sources: Expert Review Green,Literature
paediatric-onset tags were added to STR: COMP_MEDPSACH_GAC.
Mode of inheritance for STR: COMP_MEDPSACH_GAC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: COMP_MEDPSACH_GAC were set to 9887340; 17133256; 21922596
Phenotypes for STR: COMP_MEDPSACH_GAC were set to Epiphyseal dysplasia, multiple, 1 MIM#132400; Pseudoachondroplasia MIM#177170
Skeletal Muscle Channelopathies v1.2 Bryony Thompson Copied STR CNBP_DM2_CCTG from panel Repeat Disorders
Skeletal Muscle Channelopathies v1.2 CNBP_DM2_CCTG Bryony Thompson STR: CNBP_DM2_CCTG was added
STR: CNBP_DM2_CCTG was added to Skeletal Muscle Channelopathies. Sources: Expert Review Green,Expert list
adult-onset tags were added to STR: CNBP_DM2_CCTG.
Mode of inheritance for STR: CNBP_DM2_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_DM2_CCTG were set to 20301639; 11486088
Phenotypes for STR: CNBP_DM2_CCTG were set to Myotonic dystrophy 2 MIM#602668
Red cell disorders v1.42 SUPT5H Zornitza Stark Marked gene: SUPT5H as ready
Red cell disorders v1.42 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Red cell disorders v1.42 SUPT5H Zornitza Stark Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.41 SUPT5H Zornitza Stark edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3944 SUPT5H Zornitza Stark Mode of inheritance for gene: SUPT5H was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3943 SUPT5H Zornitza Stark edited their review of gene: SUPT5H: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Red cell disorders v1.41 Zornitza Stark Copied gene SUPT5H from panel Mendeliome
Red cell disorders v1.41 SUPT5H Zornitza Stark gene: SUPT5H was added
gene: SUPT5H was added to Red cell disorders. Sources: Expert Review Green,Literature
Mode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702
Phenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related
Mendeliome v1.3943 SUPT5H Zornitza Stark Marked gene: SUPT5H as ready
Mendeliome v1.3943 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Mendeliome v1.3943 SUPT5H Zornitza Stark Classified gene: SUPT5H as Green List (high evidence)
Mendeliome v1.3943 SUPT5H Zornitza Stark Gene: supt5h has been classified as Green List (High Evidence).
Mendeliome v1.3942 SUPT5H Zornitza Stark gene: SUPT5H was added
gene: SUPT5H was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SUPT5H was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUPT5H were set to 40159794; 36945604; 36054783; 32589702
Phenotypes for gene: SUPT5H were set to Erythrocyte disorder, MONDO:0044347, SUPT5H-related
Review for gene: SUPT5H was set to GREEN
Added comment: PMID 32589702, 36054783, 36945604, 37586368, 39902717 and 40159794 collectively report >40 unrelated families with heterozygous loss‑of‑function SUPT5H variants causing a β‑thalassemia‑trait‑like phenotype (elevated HbA2, mild microcytic anemia). Variants segregate in an autosomal‑dominant pattern, LOD > 3.5 in large pedigrees, and functional assays (RNA‑splicing defects, CRISPR‑edited HSPC models) demonstrate haploinsufficiency.
Sources: Literature
Mendeliome v1.3941 FRMD4B Zornitza Stark Marked gene: FRMD4B as ready
Mendeliome v1.3941 FRMD4B Zornitza Stark Gene: frmd4b has been classified as Red List (Low Evidence).
Mendeliome v1.3941 FRMD4B Zornitza Stark gene: FRMD4B was added
gene: FRMD4B was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: FRMD4B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4B were set to 40162949
Phenotypes for gene: FRMD4B were set to Duane retraction syndrome, MONDO:0007473, FRMD4B-related
Review for gene: FRMD4B was set to RED
Added comment: PMID 40162949 reports an individual with homozygous FRMD4B missense (c.380A>G, p.Lys127Arg) variant presenting with Duane retraction syndrome type III and syndromic features (hearing loss, developmental delay, atrial septal defect, gastrointestinal abnormalities). Zebrafish loss‑of‑function model recapitulates the cranial nerve phenotype, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark Marked gene: CRIM1 as ready
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.55 Zornitza Stark Copied gene CRIM1 from panel Mendeliome
Anophthalmia_Microphthalmia_Coloboma v1.55 CRIM1 Zornitza Stark gene: CRIM1 was added
gene: CRIM1 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRIM1 were set to 40114969; 33418956
Phenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related
Mendeliome v1.3940 CRIM1 Zornitza Stark Marked gene: CRIM1 as ready
Mendeliome v1.3940 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3940 CRIM1 Zornitza Stark Classified gene: CRIM1 as Amber List (moderate evidence)
Mendeliome v1.3940 CRIM1 Zornitza Stark Gene: crim1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3939 CRIM1 Zornitza Stark gene: CRIM1 was added
gene: CRIM1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: CRIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CRIM1 were set to 40114969; 33418956
Phenotypes for gene: CRIM1 were set to Microphthalmia, MONDO:0021129, CRIM1-related
Review for gene: CRIM1 was set to AMBER
Added comment: PMID 33418956 reports 1 individual, and PMID 40114969 reports 3 individuals from 3 families, all with heterozygous loss‑of‑function CRIM1 variants causing colobomatous macropthalmia with microcornea (MACOM) in an autosomal dominant pattern. Segregation is demonstrated across multiple affected relatives, and mouse and zebrafish loss‑of‑function models recapitulate the ocular phenotype, supporting haploinsufficiency as the disease mechanism. However, three of the variants are deletions of various sizes and one of the variants is present in gnomAD.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark Marked gene: ARMC2 as ready
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.63 Zornitza Stark Copied gene ARMC2 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.63 ARMC2 Zornitza Stark gene: ARMC2 was added
gene: ARMC2 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508
Phenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM# 618433
Mendeliome v1.3938 ARMC2 Zornitza Stark Marked gene: ARMC2 as ready
Mendeliome v1.3938 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Mendeliome v1.3938 ARMC2 Zornitza Stark Classified gene: ARMC2 as Green List (high evidence)
Mendeliome v1.3938 ARMC2 Zornitza Stark Gene: armc2 has been classified as Green List (High Evidence).
Mendeliome v1.3937 ARMC2 Zornitza Stark gene: ARMC2 was added
gene: ARMC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ARMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC2 were set to 40158138; 38492154; 35543806; 30686508
Phenotypes for gene: ARMC2 were set to Spermatogenic failure 38, MIM# 618433
Review for gene: ARMC2 was set to GREEN
Added comment: ARMC2 encodes an 867‑amino‑acid armadillo‑repeat protein highly expressed in testis and implicated in assembly and stability of the central pair complex of motile cilia and sperm flagella. Ten unrelated families (ten patients) with biallelic loss‑of‑function or predicted loss‑of‑function ARMC2 variants have been reported with multiple morphological abnormalities of the sperm flagella (MMAF) causing severe asthenoteratozoospermia and male infertility; one of these families also presented with primary ciliary dyskinesia pulmonary manifestations. Supportive mouse model.
Sources: Literature
Fetal anomalies v1.500 LMNB2 Zornitza Stark Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v1.499 LMNB2 Zornitza Stark reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: None; Publications: 40011009; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v1.31 PCSK1 Zornitza Stark Mode of inheritance for gene: PCSK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy v1.53 SOD1 Zornitza Stark Classified gene: SOD1 as Green List (high evidence)
Hereditary Neuropathy v1.53 SOD1 Zornitza Stark Gene: sod1 has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.52 SOD1 Zornitza Stark gene: SOD1 was added
gene: SOD1 was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOD1 were set to 39932579
Phenotypes for gene: SOD1 were set to Hereditary peripheral neuropathy, MONDO:0020127, SOD1-related
Review for gene: SOD1 was set to GREEN
Added comment: Multiple individuals reported with adult-onset, length-dependent, motor-dominant axonal neuropathy
Sources: Literature
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Marked gene: RHEB as ready
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.158 RHEB Zornitza Stark Phenotypes for gene: RHEB were changed from to Neurodevelopmental disorder MONDO:0700092, RHEB-related
Macrocephaly_Megalencephaly v0.157 RHEB Zornitza Stark Publications for gene: RHEB were set to
Macrocephaly_Megalencephaly v0.156 RHEB Zornitza Stark Mode of inheritance for gene: RHEB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.155 RHEB Zornitza Stark reviewed gene: RHEB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31337748, 29051493, 39993836; Phenotypes: Neurodevelopmental disorder MONDO:0700092, RHEB-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v1.325 RHEB Zornitza Stark Marked gene: RHEB as ready
Genetic Epilepsy v1.325 RHEB Zornitza Stark Gene: rheb has been classified as Green List (High Evidence).
Genetic Epilepsy v1.325 Zornitza Stark Copied gene RHEB from panel Mendeliome
Genetic Epilepsy v1.325 RHEB Zornitza Stark gene: RHEB was added
gene: RHEB was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RHEB was set to Other
Publications for gene: RHEB were set to 31337748; 29051493; 39993836
Phenotypes for gene: RHEB were set to Neurodevelopmental disorder MONDO:0700092, RHEB-related; Intellectual disability; Macrocephaly; Focal cortical dysplasia
Mendeliome v1.3936 RHEB Zornitza Stark Publications for gene: RHEB were set to 31337748; 29051493
Mendeliome v1.3935 RHEB Zornitza Stark edited their review of gene: RHEB: Added comment: PMID 39993836 reports fourth individual with de novo variant c.71 T>C; p.Ile24Thr, ID and epilepsy.; Changed publications: 31337748, 29051493, 39993836
Mendeliome v1.3935 MACF1 Zornitza Stark Phenotypes for gene: MACF1 were changed from Lissencephaly 9 with complex brainstem malformation, MIM# 618325 to Lissencephaly 9 with complex brainstem malformation, MIM# 618325; Congenital myasthenic syndrome, MONDO:0018940, MACF1-related
Mendeliome v1.3934 MACF1 Zornitza Stark Publications for gene: MACF1 were set to 30471716
Mendeliome v1.3933 MACF1 Zornitza Stark Mode of pathogenicity for gene: MACF1 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Mendeliome v1.3932 MACF1 Zornitza Stark Mode of inheritance for gene: MACF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3931 MACF1 Zornitza Stark edited their review of gene: MACF1: Added comment: PMIDs 37721175 and 30842214: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.; Changed publications: 30471716, 37721175, 30842214; Changed phenotypes: Lissencephaly 9 with complex brainstem malformation, MIM# 618325, Congenital myasthenic syndrome, MONDO:0018940, MACF1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Marked gene: MACF1 as ready
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Classified gene: MACF1 as Amber List (moderate evidence)
Congenital Myasthenia v1.20 MACF1 Zornitza Stark Gene: macf1 has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.19 MACF1 Zornitza Stark gene: MACF1 was added
gene: MACF1 was added to Congenital Myasthenia. Sources: Literature
Mode of inheritance for gene: MACF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MACF1 were set to 37721175; 30842214
Phenotypes for gene: MACF1 were set to Congenital myasthenic syndrome, MONDO:0018940, MACF1-related
Review for gene: MACF1 was set to AMBER
Added comment: 3 individuals reported with bi-allelic variants in this gene and a myasthenic phenotype, two congenital, one adult. Some functional data supports association.
Sources: Literature
Mendeliome v1.3931 LIG4 Zornitza Stark Publications for gene: LIG4 were set to 11779494; 16088910; 15333585; 20133615
Mendeliome v1.3930 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3929 LIG4 Zornitza Stark edited their review of gene: LIG4: Added comment: PMID 37004747: 2 variants (p.R580Q, p.A842D) in unrelated patients associated with a dominantly inherited
familial immune-dysregulation consisting of autoimmune cytopenias, lymphoproliferation, agammaglobulinemia and adaptive immune cell infiltration into nonlymphoid organ. Reconstitution experiments and molecular dynamics simulations categorize both missense mutations as loss-of-function and haploinsufficient.; Changed publications: 11779494, 16088910, 15333585, 20133615, 37004747; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Pigmentary Disorders v1.5 KITLG Zornitza Stark Publications for gene: KITLG were set to 19375057; 21368769
Hereditary Pigmentary Disorders v1.4 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3929 KITLG Zornitza Stark Mode of inheritance for gene: KITLG was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Repeat Disorders v0.272 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446
Repeat Disorders v0.271 ABCD3_OPDM_GCC Zornitza Stark Publications for STR: ABCD3_OPDM_GCC were set to https://doi.org/10.1101/2023.10.09.23296582
Repeat Disorders v0.270 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.64 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy 5, MIM# 621446
Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.63 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Mendeliome v1.3928 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446 to Oculopharyngodistal myopathy 5, MIM# 621446
Mendeliome v1.3927 ABCD3_OPDM_GCC Zornitza Stark Phenotypes for STR: ABCD3_OPDM_GCC were changed from Oculopharyngodistal myopathy MONDO:0025193 to Oculopharyngodistal myopathy MONDO:0025193; Oculopharyngodistal myopathy 5, MIM# 621446
Mendeliome v1.3926 ABCD3_OPDM_GCC Zornitza Stark reviewed STR: ABCD3_OPDM_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculopharyngodistal myopathy 5, MIM# 621446; Mode of inheritance: None
Skeletal dysplasia v0.369 SLC13A1 Zornitza Stark Publications for gene: SLC13A1 were set to 36175384; doi: https://doi.org/10.1016/j.gimo.2024.101958
Skeletal dysplasia v0.368 SLC13A1 Zornitza Stark changed review comment from: PMID now available.; to: PMID now available. Evidence is borderline with some contradictory, hence Amber rating.
Skeletal dysplasia v0.368 SLC13A1 Zornitza Stark reviewed gene: SLC13A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39925707; Phenotypes: sulfation-related bone disorder MONDO:0019688; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.499 RSPRY1 Zornitza Stark Phenotypes for gene: RSPRY1 were changed from Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM# 616723
Fetal anomalies v1.498 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Fetal anomalies v1.497 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Fetal anomalies v1.496 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Skeletal dysplasia v0.368 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Skeletal dysplasia v0.368 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.367 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Skeletal dysplasia v0.367 RSPRY1 Zornitza Stark commented on gene: RSPRY1: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.
Intellectual disability syndromic and non-syndromic v1.542 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Intellectual disability syndromic and non-syndromic v1.541 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.541 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.540 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Mendeliome v1.3926 RSPRY1 Zornitza Stark Publications for gene: RSPRY1 were set to 26365341
Mendeliome v1.3925 RSPRY1 Zornitza Stark Classified gene: RSPRY1 as Green List (high evidence)
Mendeliome v1.3925 RSPRY1 Zornitza Stark Gene: rspry1 has been classified as Green List (High Evidence).
Mendeliome v1.3924 RSPRY1 Zornitza Stark edited their review of gene: RSPRY1: Added comment: PMIDs 30063090, 38562122 and 39940902 add three additional unrelated families (total 5 families, 12 patients) with autosomal recessive loss‑of‑function RSPRY1 variants causing spondyloepimetaphyseal dysplasia, Faden‑Alkuraya type.; Changed rating: GREEN; Changed publications: 26365341, 30063090, 38562122, 39940902
Mendeliome v1.3924 TAX1BP3 Zornitza Stark Publications for gene: TAX1BP3 were set to 39963794
Mendeliome v1.3923 TAX1BP3 Zornitza Stark edited their review of gene: TAX1BP3: Added comment: PMID 25645515 reports 2 individuals from a consanguineous family with autosomal recessive dilated cardiomyopathy and septo‑optic dysplasia and a homozygous missense variant in TAX1BP3.; Changed publications: 39963794, 25645515
Arrhythmogenic Cardiomyopathy v0.75 TAX1BP3 Zornitza Stark Publications for gene: TAX1BP3 were set to (PMID: 39963794)
Arrhythmogenic Cardiomyopathy v0.74 TAX1BP3 Zornitza Stark reviewed gene: TAX1BP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25645515; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.540 Zornitza Stark Copied gene USMG5 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.540 USMG5 Zornitza Stark gene: USMG5 was added
gene: USMG5 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: USMG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USMG5 were set to 29917077; 30240627; 40014158
Phenotypes for gene: USMG5 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683
Mendeliome v1.3923 USMG5 Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627
Mendeliome v1.3922 USMG5 Zornitza Stark edited their review of gene: USMG5: Changed rating: AMBER
Mendeliome v1.3922 USMG5 Zornitza Stark reviewed gene: USMG5: Rating: ; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.3 USMG5 Zornitza Stark Tag new gene name tag was added to gene: USMG5.
Mitochondrial disease v1.3 USMG5 Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627
Mitochondrial disease v1.2 USMG5 Zornitza Stark reviewed gene: USMG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark changed review comment from: Further two individuals reported as part of NK cell deficiency cohort.; to: Same two sibs reported as part of NK cell deficiency cohort.
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark edited their review of gene: GINS4: Changed rating: RED
Combined Immunodeficiency v1.138 GINS4 Zornitza Stark reviewed gene: GINS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 39914554; Phenotypes: combined immunodeficiency MONDO:0015131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark Marked gene: TERB1 as ready
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.62 Zornitza Stark Copied gene TERB1 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.62 TERB1 Zornitza Stark gene: TERB1 was added
gene: TERB1 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963
Phenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related
Mendeliome v1.3922 TERB1 Zornitza Stark Marked gene: TERB1 as ready
Mendeliome v1.3922 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Mendeliome v1.3922 TERB1 Zornitza Stark Classified gene: TERB1 as Green List (high evidence)
Mendeliome v1.3922 TERB1 Zornitza Stark Gene: terb1 has been classified as Green List (High Evidence).
Mendeliome v1.3921 TERB1 Zornitza Stark gene: TERB1 was added
gene: TERB1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TERB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TERB1 were set to 38277113; 35172124; 33211200; 32741963
Phenotypes for gene: TERB1 were set to Infertility disorder, MONDO:0005047, TERB1-related
Review for gene: TERB1 was set to GREEN
Added comment: PMIDs 32741963, 33211200, 35172124 and 38277113 report a total of 5 unrelated families with biallelic loss‑of‑function or missense TERB1 variants causing male infertility (non‑obstructive azoospermia with spermatogenic arrest) and  2 unrelated families with primary female infertility (diminished ovarian reserve). The variants include frameshift, stop‑gain and missense changes; mouse Terb1 knockout recapitulates the meiotic‑arrest phenotype.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.539 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.539 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.538 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed rating: GREEN; Changed publications: 39979680, 38252227, 30842647
Mendeliome v1.3920 C14orf80 Zornitza Stark Publications for gene: C14orf80 were set to 39979680; 38252227
Mendeliome v1.3919 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Mendeliome v1.3919 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Mendeliome v1.3918 C14orf80 Zornitza Stark reviewed gene: C14orf80: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842647; Phenotypes: Primary microcephaly, MONDO:0016660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.389 C14orf80 Zornitza Stark Classified gene: C14orf80 as Green List (high evidence)
Microcephaly v1.389 C14orf80 Zornitza Stark Gene: c14orf80 has been classified as Green List (High Evidence).
Microcephaly v1.388 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Changed rating: GREEN
Microcephaly v1.388 C14orf80 Zornitza Stark edited their review of gene: C14orf80: Added comment: PMID 30842647 reports another individual with compound heterozygous loss‑of‑function TEDC1 variants (splice and frameshift) causing primary microcephaly, primordial dwarfism and developmental delay. Promote to Green.; Changed publications: 39979680, 38252227, 30842647
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark Marked gene: RBBP7 as ready
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Infertility and Recurrent Pregnancy Loss v1.61 Zornitza Stark Copied gene RBBP7 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.61 RBBP7 Zornitza Stark gene: RBBP7 was added
gene: RBBP7 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RBBP7 were set to 39932629; 37843278; 35809576
Phenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related
Mendeliome v1.3918 RBBP7 Zornitza Stark Marked gene: RBBP7 as ready
Mendeliome v1.3918 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Mendeliome v1.3918 RBBP7 Zornitza Stark edited their review of gene: RBBP7: Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.3918 RBBP7 Zornitza Stark Mode of inheritance for gene: RBBP7 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v1.3917 RBBP7 Zornitza Stark Classified gene: RBBP7 as Green List (high evidence)
Mendeliome v1.3917 RBBP7 Zornitza Stark Gene: rbbp7 has been classified as Green List (High Evidence).
Mendeliome v1.3916 RBBP7 Zornitza Stark gene: RBBP7 was added
gene: RBBP7 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBBP7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RBBP7 were set to 39932629; 37843278; 35809576
Phenotypes for gene: RBBP7 were set to Infertility disorder, MONDO:0005047, RBBP7-related
Review for gene: RBBP7 was set to GREEN
Added comment: PMID 35809576, 37843278, 39932629 report 12 individuals from 11 families with X-linked loss-of-function variants presenting with non‑obstructive azoospermia (severe spermatogenic failure), including maturation arrest and, in one family, Leydig cell tumor. Clinical features include small testes, elevated FSH, absence of spermatocytes and infertility. Functional evidence from Drosophila knock‑down and rescue experiments and mouse germ‑cell line knock‑down supports a loss‑of‑function (haploinsufficiency) mechanism. No contradictory evidence has been reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.538 Zornitza Stark Copied gene PRMT1 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.538 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Dystonia and Chorea v0.291 Zornitza Stark Copied gene PRMT1 from panel Mendeliome
Dystonia and Chorea v0.291 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Dystonia - complex. Sources: Expert Review Green,Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Mendeliome v1.3915 PRMT1 Zornitza Stark Marked gene: PRMT1 as ready
Mendeliome v1.3915 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Mendeliome v1.3915 PRMT1 Zornitza Stark Phenotypes for gene: PRMT1 were changed from Neurodevelopmental disorder, MONDO:0700092 to Neurodevelopmental disorder, MONDO:0700092, PRMT1-related
Mendeliome v1.3914 PRMT1 Zornitza Stark Classified gene: PRMT1 as Green List (high evidence)
Mendeliome v1.3914 PRMT1 Zornitza Stark Gene: prmt1 has been classified as Green List (High Evidence).
Mendeliome v1.3913 PRMT1 Zornitza Stark changed review comment from: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.
Sources: Literature; to: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia (in two). Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.

Two of the individuals had the same variant, p.Glu291Lys.

Sources: Literature
Mendeliome v1.3913 PRMT1 Zornitza Stark gene: PRMT1 was added
gene: PRMT1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PRMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRMT1 were set to 39937650
Phenotypes for gene: PRMT1 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: PRMT1 was set to GREEN
Added comment: PMID 39937650 reports four individuals from four unrelated families with heterozygous de novo missense PRMT1 variants presenting with neurodevelopmental disorder and dystonia. Functional studies demonstrated reduced protein stability and enzymatic activity, supporting a loss‑of‑function mechanism.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Brain Calcification v2.4 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Brain Calcification v2.4 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Red List (Low Evidence).
Brain Calcification v2.4 EXOSC4 Zornitza Stark Classified gene: EXOSC4 as Red List (low evidence)
Brain Calcification v2.4 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Red List (Low Evidence).
Brain Calcification v2.3 EXOSC4 Zornitza Stark edited their review of gene: EXOSC4: Changed rating: RED
Intellectual disability syndromic and non-syndromic v1.537 Zornitza Stark Copied gene EXOSC4 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.537 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Brain Calcification v2.3 Zornitza Stark Copied gene EXOSC4 from panel Mendeliome
Brain Calcification v2.3 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Brain Calcification. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.3912 EXOSC4 Zornitza Stark Marked gene: EXOSC4 as ready
Mendeliome v1.3912 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3912 EXOSC4 Zornitza Stark Classified gene: EXOSC4 as Amber List (moderate evidence)
Mendeliome v1.3912 EXOSC4 Zornitza Stark Gene: exosc4 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3911 EXOSC4 Zornitza Stark gene: EXOSC4 was added
gene: EXOSC4 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXOSC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC4 were set to 39009343; 37961665; 36344539
Phenotypes for gene: EXOSC4 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: EXOSC4 was set to AMBER
Added comment: PMID 37961665, 39009343 and 39982806 all report the same family with two affected siblings and a homozygous missense p.Leu187Pro variant. Reported clinical features include severe neurodevelopmental disorder with prenatal growth restriction, failure to thrive, global developmental delay, intracerebral/basal‑ganglia calcifications, renal failure and brain atrophy. Functional data in yeast and mammalian cells support pathogenicity. One additional family (PMID 36344539) reported with brain atrophy but limited other detail.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.536 NDUFA4 Zornitza Stark Tag new gene name tag was added to gene: NDUFA4.
Growth failure v1.91 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Growth failure v1.91 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.536 KDM2A Zornitza Stark Publications for gene: KDM2A were set to
Microcephaly v1.388 KDM2A Zornitza Stark Marked gene: KDM2A as ready
Microcephaly v1.388 KDM2A Zornitza Stark Gene: kdm2a has been classified as Green List (High Evidence).
Microcephaly v1.388 Zornitza Stark Copied gene KDM2A from panel Mendeliome
Microcephaly v1.388 KDM2A Zornitza Stark gene: KDM2A was added
gene: KDM2A was added to Microcephaly. Sources: Expert Review Green,Other
Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2A were set to 41468891
Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Intellectual disability syndromic and non-syndromic v1.535 Zornitza Stark Added reviews for gene KDM2A from panel Mendeliome
Growth failure v1.91 Zornitza Stark Copied gene KDM2A from panel Mendeliome
Growth failure v1.91 KDM2A Zornitza Stark gene: KDM2A was added
gene: KDM2A was added to Growth failure. Sources: Expert Review Green,Other
Mode of inheritance for gene: KDM2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2A were set to 41468891
Phenotypes for gene: KDM2A were set to Neurodevelopmental disorder, MONDO:0700092, KDM2A-related
Mendeliome v1.3910 KDM2A Zornitza Stark Publications for gene: KDM2A were set to
Mendeliome v1.3909 KDM2A Zornitza Stark reviewed gene: KDM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 41468891; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KDM2A-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3909 THBD Zornitza Stark Phenotypes for gene: THBD were changed from {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926; Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Mendeliome v1.3908 THBD Zornitza Stark Publications for gene: THBD were set to 29500241; 19625716; 25564403; 32634856
Mendeliome v1.3907 THBD Zornitza Stark edited their review of gene: THBD: Changed publications: 29500241, 19625716, 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Mendeliome v1.3907 THBD Zornitza Stark edited their review of gene: THBD: Added comment: Association with bleeding disorders:

PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.

PMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed rating: GREEN; Changed phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 6}, MIM# 612926, Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Bleeding and Platelet Disorders v1.65 THBD Zornitza Stark Phenotypes for gene: THBD were changed from Bleeding disorder to Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Bleeding and Platelet Disorders v1.64 THBD Zornitza Stark Publications for gene: THBD were set to 32634856; 25564403; 32935436; 25049278; 27436851; 28267383; 10627464
Bleeding and Platelet Disorders v1.63 THBD Zornitza Stark edited their review of gene: THBD: Changed rating: GREEN
Bleeding and Platelet Disorders v1.63 THBD Zornitza Stark edited their review of gene: THBD: Added comment: PMID 39841007: identified 8 THBD variants for 6 patients with a thrombotic (C175S, A282P, L433P, P501L, G502R, and P508L) and 2 patients with a bleeding (P260A and T478I) phenotypes from a large cohort. Functional evidence supporting pathogenicity only generated for two of the variants, functional effects of L433P and potentially C175S.

PMID 34474479: single individual with homozygous missense variant, c.793T>A (p.Cys265Ser) and potentially life-threatening bleeding events.; Changed publications: 25564403, 32634856, 39841007, 34474479; Changed phenotypes: Thrombophilia 12 due to thrombomodulin defect, MIM# 614486
Corneal Dystrophy v1.16 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Corneal Dystrophy v1.15 TGFBI Zornitza Stark edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.3907 TGFBI Zornitza Stark Publications for gene: TGFBI were set to 9054935
Mendeliome v1.3906 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.3905 TGFBI Zornitza Stark edited their review of gene: TGFBI: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v1.3905 TGFBI Zornitza Stark edited their review of gene: TGFBI: Added comment: Multiple individuals with biallelic variants and a more severe phenotype.; Changed publications: 9054935, 33772078
Corneal Dystrophy v1.15 TGFBI Zornitza Stark Mode of inheritance for gene: TGFBI was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Corneal Dystrophy v1.14 TGFBI Zornitza Stark Publications for gene: TGFBI were set to 9054935
Corneal Dystrophy v1.13 TGFBI Zornitza Stark edited their review of gene: TGFBI: Added comment: Multiple biallelic cases reported with a more severe phenotype.; Changed publications: 9054935, 33772078; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3905 PGM3 Zornitza Stark Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707; 33193641
Mendeliome v1.3905 PGM3 Zornitza Stark Publications for gene: PGM3 were set to 30578875; 31231132; 33098103; 30157810; 28704707
Mendeliome v1.3904 PGM3 Zornitza Stark edited their review of gene: PGM3: Changed publications: 30578875, 31231132, 33098103, 30157810, 28704707, 33193641
Mendeliome v1.3904 PGM3 Zornitza Stark commented on gene: PGM3: Note also PMID 33193641 proposes association between heterozygous missense variants and idiopathic focal epilepsy. However, two of the four variants are inherited from asymptomatic parents and reduced penetrance invoked. Borderline RED/AMBER for this association.
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Peroxisomal Disorders v0.61 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886
Peroxisomal Disorders v0.60 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Peroxisomal Disorders v0.59 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.58 Zornitza Stark Added reviews for gene PEX19 from panel Mendeliome
Mendeliome v1.3904 PEX19 Zornitza Stark Publications for gene: PEX19 were set to
Mendeliome v1.3903 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3902 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 39757991, 36931687, 29282281; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3902 MET Zornitza Stark Phenotypes for gene: MET were changed from Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884 to Arthrogryposis, distal, type 11 (MIM#620019), AD; Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884; Osteofibrous dysplasia, susceptibility to} 607278
Skeletal dysplasia v0.367 MET Zornitza Stark Marked gene: MET as ready
Skeletal dysplasia v0.367 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3901 MET Zornitza Stark Publications for gene: MET were set to 30777867
Mendeliome v1.3900 MET Zornitza Stark edited their review of gene: MET: Added comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation. Three germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance.

AMBER for this association.; Changed publications: 30777867, 26637977; Changed phenotypes: Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074, Papillary renal cell carcinoma MONDO:0017884, {Osteofibrous dysplasia, susceptibility to} 607278
Skeletal dysplasia v0.367 MET Zornitza Stark Classified gene: MET as Amber List (moderate evidence)
Skeletal dysplasia v0.367 MET Zornitza Stark Gene: met has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.366 MET Zornitza Stark gene: MET was added
gene: MET was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to 26637977
Phenotypes for gene: MET were set to {Osteofibrous dysplasia, susceptibility to} 607278
Review for gene: MET was set to AMBER
Added comment: OSFD is characterized by radiolucent lesions located at the periosteal surface of the diaphyseal cortex, almost exclusively of the tibia and fibula. These lesions are congenital and spontaneously resolve during skeletal maturation.

Three germline variants and one ?somatic variant identified in PMID 26637977, all abolished the splice inclusion of exon 14 in MET transcripts, which resulted in a MET receptor (MET(Δ14)) lacking a cytoplasmic juxtamembrane domain. Incomplete penetrance.
Sources: Literature
Arthrogryposis v1.7 MET Zornitza Stark reviewed gene: MET: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Proteinuria v0.234 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Proteinuria v0.234 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Proteinuria v0.234 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Proteinuria v0.233 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Proteinuria v0.232 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3900 ACTN2 Zornitza Stark edited their review of gene: ACTN2: Added comment: Multiple cardiac and skeletal phenotypes associated with variants in this gene.

Association with cardiomyopathy is established as is the adult-onset dominant skeletal myopathy.

There are only 2 unrelated individuals reported with congenital multiple‑structured‑core disease (MsCD), with de novo heterozygous variants.

The recessive adult‑onset ACTN2‑related myopathy has been reported in 5 families (7 patients) but all with homozygous p.Arg506Gly.

These two associations are AMBER.; Changed phenotypes: Myopathy, distal, 6, adult onset MIM#618655, Cardiomyopathy, hypertrophic, 23, with or without LVNC MIM#612158, Cardiomyopathy, dilated, 1AA, with or without LVNC MIM#612158, Myopathy, congenital with structured cores and Z-line abnormalities MIM#618654
Fetal anomalies v1.496 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602 to Congenital heart defects and skeletal malformations syndrome, MONDO:0060532; Congenital heart defects and skeletal malformations, OMIM:617602; Human ABL1 Deficiency Syndrome (HADS)
Fetal anomalies v1.495 ABL1 Zornitza Stark Publications for gene: ABL1 were set to 33461977; 28288113
Fetal anomalies v1.494 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v1.493 ABL1 Zornitza Stark changed review comment from: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; to: New recessive gene-disease association - 3 consanguineous families reported. AMBER for this association and MOI.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype
Fetal anomalies v1.493 ABL1 Zornitza Stark edited their review of gene: ABL1: Added comment: New recessive gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype; Changed publications: 33461977, 28288113, 39155385, 38743093; Changed phenotypes: Congenital heart defects and skeletal malformations syndrome, MIM# 617602, Human ABL1 Deficiency Syndrome (HADS); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.516 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome (MIM# 617602) to Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Human ABL1 Deficiency Syndrome (HADS)
Congenital Heart Defect v0.515 ABL1 Zornitza Stark Publications for gene: ABL1 were set to PMID: 28288113
Congenital Heart Defect v0.514 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital Heart Defect v0.513 ABL1 Zornitza Stark changed review comment from: New gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1); to: New gene-disease association - 3 consanguineous families reported.

PMID: 39155385 - Lebanese consanguineous family with a history of cardiac abnormalities. Homozygous LoF variant (NM_007313.3:c.1A > G-p.Met1?) was identified in sequencing and was shown to only be expressed in one isoform of ABL1.

PMID: 38743093 - two other consanguineous families presenting with congenital malformations and facial dysmorphism. Homozygous LoF variants were identified - Gly671Alafs*93 and Glu675Glyfs*71 (both absent from gnomAD v4.1)

Postulated that LOF variants affecting solely ABL1 isoform 1b may lead to the distinct autosomal recessive new phenotype
Mendeliome v1.3900 ABL1 Zornitza Stark reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: None
Congenital Heart Defect v0.513 ABL1 Zornitza Stark reviewed gene: ABL1: Rating: AMBER; Mode of pathogenicity: None; Publications: 39155385, 38743093; Phenotypes: Human ABL1 Deficiency Syndrome (HADS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3900 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations syndrome MIM#617602 to Congenital heart defects and skeletal malformations syndrome MIM#617602; Human ABL1 Deficiency Syndrome (HADS)
Mendeliome v1.3899 ABL1 Zornitza Stark Publications for gene: ABL1 were set to PMID: 28288113; 30855488; 32643838
Mendeliome v1.3898 ABL1 Zornitza Stark Mode of inheritance for gene: ABL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark Marked gene: SPATA16 as ready
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark Gene: spata16 has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.60 Zornitza Stark Copied gene SPATA16 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.60 SPATA16 Zornitza Stark gene: SPATA16 was added
gene: SPATA16 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPATA16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA16 were set to 17847006; 27086357; 29065458
Phenotypes for gene: SPATA16 were set to Spermatogenic failure 6 MIM#102530; Spermatogenic failure 6 MONDO:0007060
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Marked gene: NSMF as ready
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Gene: nsmf has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.77 NSMF Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Hypogonadotropic hypogonadism v0.76 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Differences of Sex Development v1.30 NSMF Zornitza Stark Publications for gene: NSMF were set to 15362570; 17235395; 21700882
Differences of Sex Development v1.29 NSMF Zornitza Stark edited their review of gene: NSMF: Changed publications: 15362570, 17235395, 21700882, 31220265, 34348883, 35316923, 39010903, 39809967
Differences of Sex Development v1.29 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed phenotypes: Hypogonadotropic hypogonadism 9 with or without anosmia, MIM# 614838
Mendeliome v1.3897 NSMF Zornitza Stark edited their review of gene: NSMF: Added comment: PMIDs 31220265, 34348883, 35316923, 39010903, 39809967 report 10 unrelated families with heterozygous NSMF missense or truncating variants linked to functional hypogonadotropic hypogonadism, congenital hypogonadotropic hypogonadism, Kallmann syndrome, normosmic isolated HH, delayed‑puberty HH, and adult‑onset azoospermia. Variants are mostly classified as VUS; most are present in gnomAD, some at implausibly high frequencies; no functional assays or robust segregation data are provided. Therefore retain Red rating.; Changed publications: 39809967, 39010903, 35316923, 34348883, 31220265; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Marked gene: DUSP6 as ready
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Gene: dusp6 has been classified as Red List (Low Evidence).
Hypogonadotropic hypogonadism v0.76 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382; 32389901
Differences of Sex Development v1.29 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382; 32389901
Hypogonadotropic hypogonadism v0.75 Zornitza Stark Added reviews for gene DUSP6 from panel Mendeliome
Differences of Sex Development v1.28 Zornitza Stark Added reviews for gene DUSP6 from panel Mendeliome
Mendeliome v1.3897 DUSP6 Zornitza Stark Publications for gene: DUSP6 were set to 23643382
Mendeliome v1.3896 DUSP6 Zornitza Stark reviewed gene: DUSP6: Rating: RED; Mode of pathogenicity: None; Publications: 39809967, 37108593, 33819414; Phenotypes: Hypogonadotropic hypogonadism 19 with or without anosmia - MIM#615269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.3896 DIAPH3 Zornitza Stark Classified gene: DIAPH3 as Amber List (moderate evidence)
Mendeliome v1.3896 DIAPH3 Zornitza Stark Gene: diaph3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3895 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Changed rating: AMBER
Mendeliome v1.3895 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564
Deafness_IsolatedAndComplex v1.312 DIAPH3 Zornitza Stark Publications for gene: DIAPH3 were set to 23441200; 20624953; 27658576
Deafness_IsolatedAndComplex v1.311 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Added comment: PMIDs 38860500 and 39767564: two further individuals reported, with different variant types (missense and frameshift) but little supporting evidence.; Changed publications: 23441200, 20624953, 38860500, 39767564
Deafness_IsolatedAndComplex v1.311 DIAPH3 Zornitza Stark edited their review of gene: DIAPH3: Changed rating: AMBER
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Marked gene: SELENOI as ready
Genetic Epilepsy v1.324 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Clefting disorders v0.300 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Cleft palate; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Clefting disorders v0.299 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Clefting disorders v0.298 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: 8 individuals from 4 families reported now, only one with cleft palate.; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Hereditary Spastic Paraplegia v1.134 Zornitza Stark Added reviews for gene SELENOI from panel Mendeliome
Genetic Epilepsy v1.324 Zornitza Stark Copied gene SELENOI from panel Mendeliome
Genetic Epilepsy v1.324 SELENOI Zornitza Stark gene: SELENOI was added
gene: SELENOI was added to Genetic Epilepsy. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SELENOI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SELENOI were set to 28052917; 39806532; 29500230; 33454747
Phenotypes for gene: SELENOI were set to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Intellectual disability syndromic and non-syndromic v1.534 SELENOI Zornitza Stark changed review comment from: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; to: 8 individuals from four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature. Profound ID in one individual, others described as mild or showing signs of regression.
Intellectual disability syndromic and non-syndromic v1.534 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Intellectual disability syndromic and non-syndromic v1.533 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Intellectual disability syndromic and non-syndromic v1.532 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.532 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.531 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: Four families reported now, upgrade to Green. Although spasticity and motor delay are prominent, intellectual impairment and speech delay are also a feature.; Changed rating: GREEN; Changed publications: 28052917, 39806532, 29500230, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.387 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Neurodevelopmental disorder, MONDO:0700092, SELENOI-related to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.386 SELENOI Zornitza Stark edited their review of gene: SELENOI: Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Microcephaly v1.386 SELENOI Zornitza Stark changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.
Microcephaly v1.386 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 39806532; 29500230; 28052917
Mendeliome v1.3895 SELENOI Zornitza Stark changed review comment from: PMID 39806532: fourth family reported.; to: PMID 33454747: fourth family reported.
Microcephaly v1.385 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Microcephaly v1.385 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Microcephaly v1.384 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 39806532, 29500230, 28052917, 39806532
Mendeliome v1.3895 SELENOI Zornitza Stark Deleted their comment
Mendeliome v1.3895 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: Fourth family reported.; Changed publications: 33454747
Mendeliome v1.3895 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals; microcephaly to Spastic paraplegia 81, autosomal recessive, MIM# 618768
Mendeliome v1.3894 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917; 39806532; 29500230
Mendeliome v1.3893 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Mendeliome v1.3893 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Mendeliome v1.3892 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMID 39806532: fourth family reported.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747; Changed phenotypes: Spastic paraplegia 81, autosomal recessive, MIM# 618768
Hereditary Spastic Paraplegia v1.133 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917; 29500230
Hereditary Spastic Paraplegia v1.132 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from Spastic paraplegia 81, autosomal recessive 618768; developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; bifid uvula in some affected individuals to Spastic paraplegia 81, autosomal recessive 618768
Hereditary Spastic Paraplegia v1.131 SELENOI Zornitza Stark Classified gene: SELENOI as Green List (high evidence)
Hereditary Spastic Paraplegia v1.131 SELENOI Zornitza Stark Gene: selenoi has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.130 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 33454747 and 39806532 add 2 additional unrelated families (bringing the total to 4 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed rating: GREEN; Changed publications: 28052917, 29500230, 39806532, 33454747
Microcephaly v1.384 SELENOI Zornitza Stark Phenotypes for gene: SELENOI were changed from developmental delay; spasticity; periventricular white mater abnormalities; peripheral neuropathy; seizures; microcephaly; bifid uvula in some affected individuals to Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Microcephaly v1.383 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Microcephaly v1.382 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Mendeliome v1.3892 SELENOI Zornitza Stark Publications for gene: SELENOI were set to 28052917
Mendeliome v1.3891 SELENOI Zornitza Stark edited their review of gene: SELENOI: Added comment: PMIDs 29500230 and 39806532 add 2 additional unrelated families (bringing the total to 3 families) with autosomal recessive loss-of-function SELENOI variants causing complicated hereditary spastic paraplegia. Core features include early‑onset spastic paraplegia, white matter abnormalities, intellectual disability, sensorineural deafness, blindness, seizures, microcephaly, bifid uvula/cleft palate, and retinal pigment abnormalities. Some functional data.; Changed publications: 39806532, 29500230, 28052917; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, SELENOI-related
Growth failure v1.90 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Growth failure v1.90 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Growth failure v1.89 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 25557026, 19789204, 16511605, 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Pituitary hormone deficiency v0.169 GHSR Zornitza Stark Publications for gene: GHSR were set to 19789204; 25557026; 16511605
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Pituitary hormone deficiency v0.168 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.167 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Pituitary hormone deficiency v0.167 Zornitza Stark Added reviews for gene GHSR from panel Mendeliome
Growth failure v1.89 Zornitza Stark Added reviews for gene GHSR from panel Mendeliome
Mendeliome v1.3891 GHSR Zornitza Stark Classified gene: GHSR as Green List (high evidence)
Mendeliome v1.3891 GHSR Zornitza Stark Gene: ghsr has been classified as Green List (High Evidence).
Mendeliome v1.3890 GHSR Zornitza Stark edited their review of gene: GHSR: Added comment: PMIDs 39785833 adds 24 unrelated families (25 individuals) with heterozygous loss‑of‑function GHSR variants and in‑vitro functional validation and short stature; PMIDs 37443653, 38838658, 37019085, 30753492, 36714562 contain additional families (singletons) with heterozygous or homozygous variants and detailed clinical data.; Changed rating: GREEN; Changed publications: 39785833, 25557026, 37443653, 38838658, 37019085, 30753492, 36714562
Cardiomyopathy_Paediatric v0.210 COA5 Zornitza Stark Publications for gene: COA5 were set to 27604308
Cardiomyopathy_Paediatric v0.209 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense.; Changed publications: 21457908, 36641477
Mitochondrial disease v1.2 COA5 Zornitza Stark Publications for gene: COA5 were set to 21457908
Mitochondrial disease v1.1 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477
Mendeliome v1.3890 COA5 Zornitza Stark Publications for gene: COA5 were set to 21457908
Mendeliome v1.3889 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477
Mendeliome v1.3889 TPCN2 Zornitza Stark Publications for gene: TPCN2 were set to 20197744; 26918892
Mendeliome v1.3888 TPCN2 Zornitza Stark Mode of inheritance for gene: TPCN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3887 TPCN2 Zornitza Stark Classified gene: TPCN2 as Amber List (moderate evidence)
Mendeliome v1.3887 TPCN2 Zornitza Stark Gene: tpcn2 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Leukodystrophy v0.335 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Leukodystrophy v0.335 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Arthrogryposis v1.7 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Arthrogryposis v1.7 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Leukodystrophy v0.335 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Leukodystrophy v0.335 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Leukodystrophy - paediatric. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Intellectual disability syndromic and non-syndromic v1.531 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.531 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Hereditary Neuropathy v1.51 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Hereditary Neuropathy v1.51 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Hereditary Neuropathy - complex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Arthrogryposis v1.7 Zornitza Stark Copied gene TRMT1L from panel Mendeliome
Arthrogryposis v1.7 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Arthrogryposis. Sources: Expert Review Red,Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Mendeliome v1.3886 TRMT1L Zornitza Stark Marked gene: TRMT1L as ready
Mendeliome v1.3886 TRMT1L Zornitza Stark Gene: trmt1l has been classified as Red List (Low Evidence).
Mendeliome v1.3886 TRMT1L Zornitza Stark gene: TRMT1L was added
gene: TRMT1L was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TRMT1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRMT1L were set to 39786990
Phenotypes for gene: TRMT1L were set to Neurodevelopmental disorder, MONDO:0700092, TRMT1L-related
Review for gene: TRMT1L was set to RED
Added comment: PMID 39786990 reports 2 individuals from a single family with an autosomal recessive homozygous missense variant c.1535C>T (p.Pro512Leu) presenting with early‑onset neurodegenerative syndrome (distal motor neuropathy, leukodystrophy, intellectual disability, hypotonia, contractures). Functional assays in patient fibroblasts show reduced acp3U tRNA modification that is rescued by wild‑type TRMT1L expression.
Sources: Literature
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Marked gene: SORCS2 as ready
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.323 Zornitza Stark Copied gene SORCS2 from panel Mendeliome
Genetic Epilepsy v1.323 SORCS2 Zornitza Stark gene: SORCS2 was added
gene: SORCS2 was added to Genetic Epilepsy. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SORCS2 were set to 39810752
Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related
Mendeliome v1.3885 SORCS2 Zornitza Stark Marked gene: SORCS2 as ready
Mendeliome v1.3885 SORCS2 Zornitza Stark Gene: sorcs2 has been classified as Red List (Low Evidence).
Mendeliome v1.3885 SORCS2 Zornitza Stark gene: SORCS2 was added
gene: SORCS2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SORCS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SORCS2 were set to 39810752
Phenotypes for gene: SORCS2 were set to Neurodevelopmental disorder, MONDO:0700092, SORCS2-related
Review for gene: SORCS2 was set to RED
Added comment: PMID 39810752 reports one individual with a de novo heterozygous missense SORCS2 variant (c.2614C>T, p.Pro872Ser) presenting with neonatal encephalopathy and refractory seizures. Cell‑based assays demonstrate disrupted SorCS2 dimerization and mislocalization, supporting a loss‑of‑function mechanism. Variant is absent from gnomAD.
Sources: Literature
Motor Neurone Disease v1.40 PCP4 Zornitza Stark Marked gene: PCP4 as ready
Motor Neurone Disease v1.40 PCP4 Zornitza Stark Gene: pcp4 has been classified as Red List (Low Evidence).
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark Marked gene: RNU6-9 as ready
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.233 Zornitza Stark Copied gene RNU6-9 from panel Mendeliome
Retinitis pigmentosa v0.233 RNU6-9 Zornitza Stark gene: RNU6-9 was added
gene: RNU6-9 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-9 were set to 39830270
Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related
Mendeliome v1.3884 RNU6-9 Zornitza Stark Marked gene: RNU6-9 as ready
Mendeliome v1.3884 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark Marked gene: RNU6-8 as ready
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3884 RNU6-9 Zornitza Stark Classified gene: RNU6-9 as Green List (high evidence)
Mendeliome v1.3884 RNU6-9 Zornitza Stark Gene: rnu6-9 has been classified as Green List (High Evidence).
Mendeliome v1.3883 RNU6-9 Zornitza Stark gene: RNU6-9 was added
gene: RNU6-9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-9 were set to 39830270
Phenotypes for gene: RNU6-9 were set to retinitis pigmentosa MONDO:0019200, RNU6-9-related
Review for gene: RNU6-9 was set to GREEN
Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset, progressive visual field loss, caused by de novo and inherited insertion variants n.55_56insG and n.56_57insG in RNU6-9. The variants act via a dominant‑negative mechanism and co‑immunoprecipitation in HeLa cells shows increased binding to SART3 and PRPF31. Note multiple RNU6 paralogues.
Sources: Literature
Retinitis pigmentosa v0.232 Zornitza Stark Copied gene RNU6-8 from panel Mendeliome
Retinitis pigmentosa v0.232 RNU6-8 Zornitza Stark gene: RNU6-8 was added
gene: RNU6-8 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-8 were set to 39830270
Phenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related
Mendeliome v1.3882 RNU6-8 Zornitza Stark Marked gene: RNU6-8 as ready
Mendeliome v1.3882 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3882 RNU6-8 Zornitza Stark Classified gene: RNU6-8 as Green List (high evidence)
Mendeliome v1.3882 RNU6-8 Zornitza Stark Gene: rnu6-8 has been classified as Green List (High Evidence).
Mendeliome v1.3881 RNU6-8 Zornitza Stark gene: RNU6-8 was added
gene: RNU6-8 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-8 were set to 39830270
Phenotypes for gene: RNU6-8 were set to Retinitis pigmentosa MONDO:0019200, RNU6-8-related
Review for gene: RNU6-8 was set to GREEN
Added comment: PMID 39830270 reports multiple individuals with a dominant insertion variant (n.55_56insG) in RNU6-8 presenting with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Co‑IP assays demonstrate increased binding of mutant U6 snRNA to SART3 and PRPF31, supporting a dominant‑negative mechanism; both de novo and inherited cases are described. Note multiple RNU6 paralogues.
Sources: Literature
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark Marked gene: RNU6-2 as ready
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.231 Zornitza Stark Copied gene RNU6-2 from panel Mendeliome
Retinitis pigmentosa v0.231 RNU6-2 Zornitza Stark gene: RNU6-2 was added
gene: RNU6-2 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-2 were set to 39830270
Phenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related
Mendeliome v1.3880 RNU6-2 Zornitza Stark Marked gene: RNU6-2 as ready
Mendeliome v1.3880 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Mendeliome v1.3880 RNU6-2 Zornitza Stark Classified gene: RNU6-2 as Green List (high evidence)
Mendeliome v1.3880 RNU6-2 Zornitza Stark Gene: rnu6-2 has been classified as Green List (High Evidence).
Mendeliome v1.3879 RNU6-2 Zornitza Stark gene: RNU6-2 was added
gene: RNU6-2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-2 were set to 39830270
Phenotypes for gene: RNU6-2 were set to Retinitis pigmentosa MONDO:0019200, RNU6-2-related
Review for gene: RNU6-2 was set to GREEN
Added comment: PMID 39830270 reports 99 individuals with autosomal dominant retinitis pigmentosa, adolescent onset and progressive peripheral vision loss. Insertion variants n.55_56insG and n.56_57insG in the U6 snRNA were identified, with de novo events in several cases and inherited segregation in others. Co‑IP assays demonstrate increased binding of mutant U6 to di‑snRNP proteins, indicating a dominant‑negative gain‑of‑function effect on spliceosomal assembly.
Sources: Literature
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark Marked gene: RNU6-1 as ready
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.230 Zornitza Stark Copied gene RNU6-1 from panel Mendeliome
Retinitis pigmentosa v0.230 RNU6-1 Zornitza Stark gene: RNU6-1 was added
gene: RNU6-1 was added to Retinitis pigmentosa. Sources: Expert Review Green,Literature
Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-1 were set to 39830270
Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related
Mendeliome v1.3878 RNU6-1 Zornitza Stark Marked gene: RNU6-1 as ready
Mendeliome v1.3878 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Mendeliome v1.3878 RNU6-1 Zornitza Stark Classified gene: RNU6-1 as Green List (high evidence)
Mendeliome v1.3878 RNU6-1 Zornitza Stark Gene: rnu6-1 has been classified as Green List (High Evidence).
Mendeliome v1.3877 RNU6-1 Zornitza Stark gene: RNU6-1 was added
gene: RNU6-1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RNU6-1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RNU6-1 were set to 39830270
Phenotypes for gene: RNU6-1 were set to retinitis pigmentosa MONDO:0019200, RNU6-1-related
Review for gene: RNU6-1 was set to GREEN
Added comment: RNU6-1 encodes the U6 small nuclear RNA, a core spliceosomal component involved in pre-mRNA splicing. PMID 39830270 reports 99 individuals with autosomal dominant adolescent-onset progressive retinitis pigmentosa caused by heterozygous insertion variants (n.55_56insG and n.56_57insG). The disease follows a dominant inheritance pattern with de novo events confirmed in seven individuals, and functional assays demonstrate a dominant‑negative effect via increased binding of mutant U6 snRNA to SART3 and PRPF31.

Preprint.
Sources: Literature
Mendeliome v1.3876 FAM58A Zornitza Stark Marked gene: FAM58A as ready
Mendeliome v1.3876 FAM58A Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name is CCNQ
Mendeliome v1.3876 FAM58A Zornitza Stark Gene: fam58a has been classified as Green List (High Evidence).
Mendeliome v1.3876 FAM58A Zornitza Stark Tag new gene name tag was added to gene: FAM58A.
Motor Neurone Disease v1.40 Zornitza Stark Copied gene PCP4 from panel Incidentalome
Motor Neurone Disease v1.40 PCP4 Zornitza Stark gene: PCP4 was added
gene: PCP4 was added to Motor Neurone Disease. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCP4 were set to 39852553
Phenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related
Incidentalome v0.372 PCP4 Zornitza Stark Marked gene: PCP4 as ready
Incidentalome v0.372 PCP4 Zornitza Stark Gene: pcp4 has been classified as Red List (Low Evidence).
Incidentalome v0.372 PCP4 Zornitza Stark gene: PCP4 was added
gene: PCP4 was added to Incidentalome. Sources: Literature
Mode of inheritance for gene: PCP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PCP4 were set to 39852553
Phenotypes for gene: PCP4 were set to Familial amyotrophic lateral sclerosis, MONDO:0005144, PCP4-related
Review for gene: PCP4 was set to RED
Added comment: PMID 39852553 reports 4 individuals from a large ALS cohort with a heterozygous intronic loss‑of‑function variant. The variant creates a cryptic exon and premature termination codon; functional assays (minigene splicing, splicing‑motif analysis, neuronal knockdown and rescue) support a loss‑of‑function (haploinsufficiency) mechanism. Detailed clinical phenotyping and segregation data are limited.
Sources: Literature
Severe early-onset obesity v1.24 OTP Zornitza Stark Marked gene: OTP as ready
Severe early-onset obesity v1.24 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.24 Zornitza Stark Copied gene OTP from panel Mendeliome
Severe early-onset obesity v1.24 OTP Zornitza Stark gene: OTP was added
gene: OTP was added to Severe early-onset obesity. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTP were set to 39813316; 29107289
Phenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related
Mendeliome v1.3876 OTP Zornitza Stark Marked gene: OTP as ready
Mendeliome v1.3876 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3876 OTP Zornitza Stark Classified gene: OTP as Amber List (moderate evidence)
Mendeliome v1.3876 OTP Zornitza Stark Gene: otp has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3875 OTP Zornitza Stark gene: OTP was added
gene: OTP was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: OTP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: OTP were set to 39813316; 29107289
Phenotypes for gene: OTP were set to Obesity disorder, MONDO:0011122, OTP-related
Review for gene: OTP was set to AMBER
Added comment: PMID 29107289 reports a single individual with a heterozygous missense OTP variant (p.Q153R) presenting with severe early‑onset obesity and attention‑deficit disorder. PMID 39813316 adds five unrelated individuals carrying predicted loss‑of‑function OTP variants and confirms the Q153R case, together implicating heterozygous loss‑of‑function OTP as a cause of early‑onset severe obesity with metabolic comorbidities (type 2 diabetes, dyslipidemia, hepatic steatosis). However, individuals are ascertained from UK Biobank, hence clinical details are sparse. Mouse models with OTP haploinsufficiency or a Q153R knock‑in recapitulate hyperphagia and obesity, providing functional support.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.59 Zornitza Stark Copied gene NKAPL from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.59 NKAPL Zornitza Stark gene: NKAPL was added
gene: NKAPL was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NKAPL were set to 39824811
Phenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related
Mendeliome v1.3874 NKAPL Zornitza Stark Marked gene: NKAPL as ready
Mendeliome v1.3874 NKAPL Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3874 NKAPL Zornitza Stark Classified gene: NKAPL as Amber List (moderate evidence)
Mendeliome v1.3874 NKAPL Zornitza Stark Gene: nkapl has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3873 NKAPL Zornitza Stark gene: NKAPL was added
gene: NKAPL was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NKAPL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NKAPL were set to 39824811
Phenotypes for gene: NKAPL were set to Spermatogenic failure, MONDO:0004983, NKAPL-related
Review for gene: NKAPL was set to AMBER
Added comment: PMID 39824811 reports four unrelated Han Chinese men with heterozygous NKAPL variants (c.844G>A, c.896C>G, c.1040G>A and c.1046_1047delTG) presenting with non‑obstructive azoospermia. Supportive mouse model. However, note 3 of the 4 variants are present at relatively high frequencies in gnomAD.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark Marked gene: TDRD6 as ready
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Cataract v0.532 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Cataract v0.532 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Infertility and Recurrent Pregnancy Loss v1.58 Zornitza Stark Copied gene TDRD6 from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.58 TDRD6 Zornitza Stark gene: TDRD6 was added
gene: TDRD6 was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDRD6 were set to 39764564; 39331689
Phenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related
Mendeliome v1.3872 TDRD6 Zornitza Stark Marked gene: TDRD6 as ready
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3872 TDRD6 Zornitza Stark Classified gene: TDRD6 as Amber List (moderate evidence)
Mendeliome v1.3872 TDRD6 Zornitza Stark Gene: tdrd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3871 TDRD6 Zornitza Stark gene: TDRD6 was added
gene: TDRD6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TDRD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDRD6 were set to 39764564; 39331689
Phenotypes for gene: TDRD6 were set to Infertility disorder, MONDO:0005047, TDRD6-related
Review for gene: TDRD6 was set to AMBER
Added comment: PMID 39331689 reports one family and PMID 39764564 reports two families, together three unrelated families with biallelic variants in TDRD6 causing severe oligo‑astheno‑teratozoospermia (OAT) and early embryonic arrest after ICSI. Supportive animal model. Note missense variant is relatively common on gnomAD.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.530 Zornitza Stark Copied gene SPAG9 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.530 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Cataract v0.532 Zornitza Stark Copied gene SPAG9 from panel Mendeliome
Cataract v0.532 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark Marked gene: PBXIP1 as ready
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark Gene: pbxip1 has been classified as Red List (Low Evidence).
Mendeliome v1.3870 SPAG9 Zornitza Stark Marked gene: SPAG9 as ready
Mendeliome v1.3870 SPAG9 Zornitza Stark Gene: spag9 has been classified as Red List (Low Evidence).
Mendeliome v1.3870 SPAG9 Zornitza Stark gene: SPAG9 was added
gene: SPAG9 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: SPAG9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPAG9 were set to 39846792
Phenotypes for gene: SPAG9 were set to Neurodevelopmental disorder, MONDO:0700092, SPAG9-related
Review for gene: SPAG9 was set to RED
Added comment: PMID 39846792 reports 2 individuals from 2 families with the same biallelic loss-of-function frameshift variant in SPAG9 presenting with coarse facial features, albinism, cataract, skeletal abnormalities and severe developmental delay. Limited functional data, possible founder variant.
Sources: Literature
Deafness_IsolatedAndComplex v1.311 Zornitza Stark Copied gene PBXIP1 from panel Mendeliome
Deafness_IsolatedAndComplex v1.311 PBXIP1 Zornitza Stark gene: PBXIP1 was added
gene: PBXIP1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Red,Literature
Mode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PBXIP1 were set to 39786576; 38947059
Phenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related
Mendeliome v1.3869 PBXIP1 Zornitza Stark Marked gene: PBXIP1 as ready
Mendeliome v1.3869 PBXIP1 Zornitza Stark Gene: pbxip1 has been classified as Red List (Low Evidence).
Mendeliome v1.3869 PBXIP1 Zornitza Stark gene: PBXIP1 was added
gene: PBXIP1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: PBXIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PBXIP1 were set to 39786576; 38947059
Phenotypes for gene: PBXIP1 were set to non-syndromic genetic hearing loss, MONDO:0019497, PBXIP1-related
Review for gene: PBXIP1 was set to RED
Added comment: One individual from a consanguineous family with a homozygous nonsense PBXIP1 variant (c.1722G>A; p.Trp574*) causing bilateral cochlear aplasia and congenital profound sensorineural hearing loss. Functional studies using iPSC‑derived organoids with knockout and knock‑in of the nonsense allele recapitulate the human phenotype, supporting a loss‑of‑function disease mechanism.
Sources: Literature
Microcephaly v1.382 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Microcephaly v1.382 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Microcephaly. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Intellectual disability syndromic and non-syndromic v1.529 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Intellectual disability syndromic and non-syndromic v1.529 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v1.493 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Fetal anomalies v1.493 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Arthrogryposis v1.6 Zornitza Stark Copied gene NUBP2 from panel Mendeliome
Arthrogryposis v1.6 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Arthrogryposis. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Mendeliome v1.3868 NUBP2 Zornitza Stark Marked gene: NUBP2 as ready
Mendeliome v1.3868 NUBP2 Zornitza Stark Gene: nubp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3868 NUBP2 Zornitza Stark Classified gene: NUBP2 as Amber List (moderate evidence)
Mendeliome v1.3868 NUBP2 Zornitza Stark Gene: nubp2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3867 NUBP2 Zornitza Stark gene: NUBP2 was added
gene: NUBP2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: NUBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUBP2 were set to 39867373
Phenotypes for gene: NUBP2 were set to Neurodevelopmental disorder, MONDO:0700092
Review for gene: NUBP2 was set to AMBER
Added comment: PMID 39867373 reports 2 individuals from 2 unrelated families with biallelic missense variants in NUBP2 presenting with congenital primary microcephaly, intrauterine growth restriction, severe joint contractures and facial dysmorphism. A forebrain‑specific conditional Nubp2 knockout mouse recapitulates the severe microcephaly, and rescue assays show patient alleles fail to restore growth, supporting a loss‑of‑function mechanism.

Preprint.
Sources: Literature
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark Marked gene: IQUB as ready
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Infertility and Recurrent Pregnancy Loss v1.57 Zornitza Stark Copied gene IQUB from panel Mendeliome
Infertility and Recurrent Pregnancy Loss v1.57 IQUB Zornitza Stark gene: IQUB was added
gene: IQUB was added to Infertility and Recurrent Pregnancy Loss. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQUB were set to 39849482; 36355624
Phenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related
Mendeliome v1.3866 IQUB Zornitza Stark Marked gene: IQUB as ready
Mendeliome v1.3866 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3866 IQUB Zornitza Stark Classified gene: IQUB as Amber List (moderate evidence)
Mendeliome v1.3866 IQUB Zornitza Stark Gene: iqub has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3865 IQUB Zornitza Stark gene: IQUB was added
gene: IQUB was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: IQUB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQUB were set to 39849482; 36355624
Phenotypes for gene: IQUB were set to Spermatogenic failure, MONDO:0004983, IQUB-related
Review for gene: IQUB was set to AMBER
Added comment: PMID 36355624 and PMID 39849482 report 2 unrelated families with autosomal recessive loss‑of‑function variants in IQUB (c.942T>G p.Tyr314* and c.842del p.L281Pfs*28) causing male infertility due to severe asthenospermia/astenozoospermia with normal sperm morphology. Functional studies include mouse knockout/knock‑in models that recapitulate the infertility phenotype.
Sources: Literature
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark Marked gene: GCC2 as ready
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Defects of intrinsic and innate immunity v1.25 Zornitza Stark Copied gene GCC2 from panel Mendeliome
Defects of intrinsic and innate immunity v1.25 GCC2 Zornitza Stark gene: GCC2 was added
gene: GCC2 was added to Defects of intrinsic and innate immunity. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCC2 were set to 39813120
Phenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related
Mendeliome v1.3864 GCC2 Zornitza Stark Marked gene: GCC2 as ready
Mendeliome v1.3864 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3864 GCC2 Zornitza Stark Classified gene: GCC2 as Amber List (moderate evidence)
Mendeliome v1.3864 GCC2 Zornitza Stark Gene: gcc2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3863 GCC2 Zornitza Stark gene: GCC2 was added
gene: GCC2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: GCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCC2 were set to 39813120
Phenotypes for gene: GCC2 were set to Inborn error of immunity, MONDO:0003778, GCC2-related
Review for gene: GCC2 was set to AMBER
Added comment: PMID 39813120 reports two individuals from two families with compound het missense GCC2 variants presenting with natural killer cell deficiency, recurrent viral infections, and impaired lytic granule convergence. Functional assays show markedly reduced NK cell cytotoxicity and defective granule convergence, which is rescued by wild‑type GCC2 but not by the E1608G mutant.
Sources: Literature
Cataract v0.531 EXD3 Zornitza Stark Marked gene: EXD3 as ready
Cataract v0.531 EXD3 Zornitza Stark Gene: exd3 has been classified as Red List (Low Evidence).
Cataract v0.531 Zornitza Stark Copied gene EXD3 from panel Mendeliome
Cataract v0.531 EXD3 Zornitza Stark gene: EXD3 was added
gene: EXD3 was added to Cataract. Sources: Expert Review Red,Literature
Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXD3 were set to 37396523
Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related
Mendeliome v1.3862 EXD3 Zornitza Stark Marked gene: EXD3 as ready
Mendeliome v1.3862 EXD3 Zornitza Stark Gene: exd3 has been classified as Red List (Low Evidence).
Mendeliome v1.3862 EXD3 Zornitza Stark gene: EXD3 was added
gene: EXD3 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: EXD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: EXD3 were set to 37396523
Phenotypes for gene: EXD3 were set to Cataract, MONDO:0005129, EXD3-related
Review for gene: EXD3 was set to RED
Added comment: PMID 37396523 reports 34 individuals from 3 unrelated families where a heterozygous missense variant c.112C>T (p.Arg38Trp) segregated in an autosomal dominant manner, presenting with bilateral posterior polar congenital cataract. No functional data. Variant is present in gnomAD in 13 individuals. Haplotype analysis suggested it had arisen independently.
Sources: Literature
Mendeliome v1.3861 EP400 Zornitza Stark reviewed gene: EP400: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.530 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Cataract v0.530 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Red List (Low Evidence).
Cataract v0.530 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Hemophagocytic lymphohistiocytosis, familial, 5 MIM#613101
Cataract v0.529 STXBP2 Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.528 RET Zornitza Stark Marked gene: RET as ready
Cataract v0.528 RET Zornitza Stark Gene: ret has been classified as Red List (Low Evidence).
Cataract v0.528 RET Zornitza Stark Mode of inheritance for gene: RET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.527 NCF1 Zornitza Stark Marked gene: NCF1 as ready
Cataract v0.527 NCF1 Zornitza Stark Gene: ncf1 has been classified as Red List (Low Evidence).
Cataract v0.527 NCF1 Zornitza Stark Phenotypes for gene: NCF1 were changed from to Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700
Cataract v0.526 NCF1 Zornitza Stark Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.525 LRBA Zornitza Stark Marked gene: LRBA as ready
Cataract v0.525 LRBA Zornitza Stark Gene: lrba has been classified as Red List (Low Evidence).
Cataract v0.525 LRBA Zornitza Stark Phenotypes for gene: LRBA were changed from to Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Cataract v0.524 LRBA Zornitza Stark Mode of inheritance for gene: LRBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.523 LIG4 Zornitza Stark Marked gene: LIG4 as ready
Cataract v0.523 LIG4 Zornitza Stark Gene: lig4 has been classified as Red List (Low Evidence).
Cataract v0.523 LIG4 Zornitza Stark Mode of inheritance for gene: LIG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.522 VPS4A Zornitza Stark Marked gene: VPS4A as ready
Cataract v0.522 VPS4A Zornitza Stark Gene: vps4a has been classified as Green List (High Evidence).
Cataract v0.521 Zornitza Stark Copied gene VPS4A from panel Mendeliome
Cataract v0.521 VPS4A Zornitza Stark gene: VPS4A was added
gene: VPS4A was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to PMID: 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome MIM# 619273
Mode of pathogenicity for gene: VPS4A was set to Other
Cataract v0.520 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Cataract v0.520 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Cataract v0.520 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed publications: 36055214
Cataract v0.520 LETM1 Zornitza Stark commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).
Mendeliome v1.3861 LETM1 Zornitza Stark edited their review of gene: LETM1: Changed publications: 36055214
Mendeliome v1.3861 LETM1 Zornitza Stark commented on gene: LETM1: The common features included respiratory chain complex deficiencies (100%), global developmental delay (94%), optic atrophy (83%), sensorineural hearing loss (78%), and cerebellar ataxia (78%) followed by epilepsy (67%), spasticity (53%), and myopathy (50%). Other features included bilateral cataracts (42%), cardiomyopathy (36%), and diabetes (27%).
Cataract v0.520 Zornitza Stark Copied gene LETM1 from panel Mendeliome
Cataract v0.520 LETM1 Zornitza Stark gene: LETM1 was added
gene: LETM1 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Cataract v0.519 DHCR7 Zornitza Stark Classified gene: DHCR7 as Green List (high evidence)
Cataract v0.519 DHCR7 Zornitza Stark Gene: dhcr7 has been classified as Green List (High Evidence).
Cataract v0.518 DHCR7 Zornitza Stark changed review comment from: Cataracts rarely reported in SLO.; to: Cataracts in around 20%.
Cataract v0.518 DHCR7 Zornitza Stark edited their review of gene: DHCR7: Changed rating: GREEN
Cataract v0.518 CDK9 Zornitza Stark Marked gene: CDK9 as ready
Cataract v0.518 CDK9 Zornitza Stark Gene: cdk9 has been classified as Green List (High Evidence).
Cataract v0.518 CDK9 Zornitza Stark reviewed gene: CDK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.518 Zornitza Stark Copied gene CDK9 from panel Mendeliome
Cataract v0.518 CDK9 Zornitza Stark gene: CDK9 was added
gene: CDK9 was added to Cataract. Sources: Expert Review Green,Literature
Mode of inheritance for gene: CDK9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK9 were set to 40954203; 33640901; 30237576; 26633546
Phenotypes for gene: CDK9 were set to multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO:0015160; CHARGE-like syndrome with retinal dystrophy
Cataract v0.517 WRN Zornitza Stark Marked gene: WRN as ready
Cataract v0.517 WRN Zornitza Stark Gene: wrn has been classified as Green List (High Evidence).
Cataract v0.517 WRN Zornitza Stark Phenotypes for gene: WRN were changed from to Werner syndrome, MIM# 277700; MONDO:0010196
Cataract v0.516 WRN Zornitza Stark Publications for gene: WRN were set to
Cataract v0.515 WRN Zornitza Stark Mode of inheritance for gene: WRN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.514 Zornitza Stark Added reviews for gene WRN from panel Mendeliome
Cataract v0.513 VSX2 Zornitza Stark Marked gene: VSX2 as ready
Cataract v0.513 VSX2 Zornitza Stark Gene: vsx2 has been classified as Green List (High Evidence).
Cataract v0.513 VSX2 Zornitza Stark Phenotypes for gene: VSX2 were changed from to Microphthalmia with coloboma 3, MIM# 610092
Cataract v0.512 VSX2 Zornitza Stark Publications for gene: VSX2 were set to
Cataract v0.511 VSX2 Zornitza Stark Mode of inheritance for gene: VSX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.510 VSX2 Zornitza Stark changed review comment from: More than 10 unrelated families reported.; to: More than 10 unrelated families reported. Cataract as part of a more complex eye phenotype.
Cataract v0.510 VSX2 Zornitza Stark edited their review of gene: VSX2: Changed phenotypes: Microphthalmia with coloboma 3, MIM# 610092
Cataract v0.510 Zornitza Stark Added reviews for gene VSX2 from panel Mendeliome
Cataract v0.509 VIM Zornitza Stark Marked gene: VIM as ready
Cataract v0.509 VIM Zornitza Stark Gene: vim has been classified as Green List (High Evidence).
Cataract v0.509 VIM Zornitza Stark Phenotypes for gene: VIM were changed from to Cataract 30, pulverulent, MIM# 116300
Cataract v0.508 VIM Zornitza Stark Publications for gene: VIM were set to
Cataract v0.507 VIM Zornitza Stark Mode of inheritance for gene: VIM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.506 VIM Zornitza Stark reviewed gene: VIM: Rating: GREEN; Mode of pathogenicity: None; Publications: 26694549; Phenotypes: Cataract 30, pulverulent, MIM# 116300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.506 TFAP2A Zornitza Stark Marked gene: TFAP2A as ready
Cataract v0.506 TFAP2A Zornitza Stark Gene: tfap2a has been classified as Green List (High Evidence).
Cataract v0.506 TFAP2A Zornitza Stark Phenotypes for gene: TFAP2A were changed from to Branchiooculofacial syndrome, MIM# 113620
Cataract v0.505 TFAP2A Zornitza Stark Publications for gene: TFAP2A were set to
Cataract v0.504 TFAP2A Zornitza Stark Mode of inheritance for gene: TFAP2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.503 TFAP2A Zornitza Stark reviewed gene: TFAP2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 36263936; Phenotypes: Branchiooculofacial syndrome, MIM# 113620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.503 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Cataract v0.503 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Cataract v0.503 SLC2A1 Zornitza Stark Phenotypes for gene: SLC2A1 were changed from to GLUT1 deficiency syndrome MONDO:0000188; Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885
Cataract v0.502 SLC2A1 Zornitza Stark Publications for gene: SLC2A1 were set to
Cataract v0.501 SLC2A1 Zornitza Stark Mode of inheritance for gene: SLC2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.500 SLC2A1 Zornitza Stark reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492876; Phenotypes: GLUT1 deficiency syndrome MONDO:0000188, Stomatin-deficient cryohydrocytosis with neurologic defects, MIM# 608885; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.500 PITX3 Zornitza Stark Marked gene: PITX3 as ready
Cataract v0.500 PITX3 Zornitza Stark Gene: pitx3 has been classified as Green List (High Evidence).
Cataract v0.500 PITX3 Zornitza Stark Phenotypes for gene: PITX3 were changed from to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623
Cataract v0.499 PITX3 Zornitza Stark Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.498 PITX3 Zornitza Stark reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250 Cataract 11, multiple types, MIM# 610623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.498 PEX7 Zornitza Stark Marked gene: PEX7 as ready
Cataract v0.498 PEX7 Zornitza Stark Gene: pex7 has been classified as Green List (High Evidence).
Cataract v0.498 PEX7 Zornitza Stark Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110
Cataract v0.497 PEX7 Zornitza Stark Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.496 PEX7 Zornitza Stark reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.496 PEX6 Zornitza Stark Marked gene: PEX6 as ready
Cataract v0.496 PEX6 Zornitza Stark Gene: pex6 has been classified as Green List (High Evidence).
Cataract v0.496 PEX6 Zornitza Stark Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)
Cataract v0.495 PEX6 Zornitza Stark Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.494 PEX6 Zornitza Stark reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.494 PEX5 Zornitza Stark Marked gene: PEX5 as ready
Cataract v0.494 PEX5 Zornitza Stark Gene: pex5 has been classified as Green List (High Evidence).
Cataract v0.494 PEX5 Zornitza Stark Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110)
Cataract v0.493 PEX5 Zornitza Stark Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.492 PEX5 Zornitza Stark reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger) (MIM#214110); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.492 PEX3 Zornitza Stark Marked gene: PEX3 as ready
Cataract v0.492 PEX3 Zornitza Stark Gene: pex3 has been classified as Green List (High Evidence).
Cataract v0.492 PEX3 Zornitza Stark Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger) 614882
Cataract v0.491 PEX3 Zornitza Stark Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.490 PEX3 Zornitza Stark reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 10A (Zellweger) 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.490 PEX26 Zornitza Stark Marked gene: PEX26 as ready
Cataract v0.490 PEX26 Zornitza Stark Gene: pex26 has been classified as Green List (High Evidence).
Cataract v0.490 PEX26 Zornitza Stark Phenotypes for gene: PEX26 were changed from to Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872
Cataract v0.489 PEX26 Zornitza Stark Mode of inheritance for gene: PEX26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.488 PEX26 Zornitza Stark reviewed gene: PEX26: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.488 PEX2 Zornitza Stark Marked gene: PEX2 as ready
Cataract v0.488 PEX2 Zornitza Stark Gene: pex2 has been classified as Green List (High Evidence).
Cataract v0.488 PEX2 Zornitza Stark Phenotypes for gene: PEX2 were changed from to Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866
Cataract v0.487 PEX2 Zornitza Stark Mode of inheritance for gene: PEX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.486 PEX2 Zornitza Stark reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.486 PEX19 Zornitza Stark Marked gene: PEX19 as ready
Cataract v0.486 PEX19 Zornitza Stark Gene: pex19 has been classified as Green List (High Evidence).
Cataract v0.486 PEX19 Zornitza Stark Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886
Cataract v0.485 PEX19 Zornitza Stark Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.484 PEX19 Zornitza Stark reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.484 PEX16 Zornitza Stark Marked gene: PEX16 as ready
Cataract v0.484 PEX16 Zornitza Stark Gene: pex16 has been classified as Green List (High Evidence).
Cataract v0.484 PEX16 Zornitza Stark Phenotypes for gene: PEX16 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Cataract v0.483 PEX16 Zornitza Stark Mode of inheritance for gene: PEX16 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.482 PEX16 Zornitza Stark reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.482 PEX14 Zornitza Stark Marked gene: PEX14 as ready
Cataract v0.482 PEX14 Zornitza Stark Gene: pex14 has been classified as Green List (High Evidence).
Cataract v0.482 PEX14 Zornitza Stark Phenotypes for gene: PEX14 were changed from to Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876
Cataract v0.481 PEX14 Zornitza Stark Mode of inheritance for gene: PEX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.480 PEX14 Zornitza Stark reviewed gene: PEX14: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.480 PEX13 Zornitza Stark Marked gene: PEX13 as ready
Cataract v0.480 PEX13 Zornitza Stark Gene: pex13 has been classified as Green List (High Evidence).
Cataract v0.480 PEX13 Zornitza Stark Phenotypes for gene: PEX13 were changed from to Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883)
Cataract v0.479 PEX13 Zornitza Stark Mode of inheritance for gene: PEX13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.478 PEX13 Zornitza Stark reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.478 PEX12 Zornitza Stark Marked gene: PEX12 as ready
Cataract v0.478 PEX12 Zornitza Stark Gene: pex12 has been classified as Green List (High Evidence).
Cataract v0.478 PEX12 Zornitza Stark Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859
Cataract v0.477 PEX12 Zornitza Stark Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.476 PEX12 Zornitza Stark reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Peroxisomal Disorders v0.57 PEX11B Zornitza Stark Publications for gene: PEX11B were set to 20301621; 22581968
Peroxisomal Disorders v0.56 PEX11B Zornitza Stark edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed publications: 20301621, 22581968, 38423277, 31724321, 28129423
Mendeliome v1.3861 PEX11B Zornitza Stark Publications for gene: PEX11B were set to 20301621; 22581968
Mendeliome v1.3860 PEX11B Zornitza Stark edited their review of gene: PEX11B: Added comment: Additional families reported.; Changed rating: GREEN; Changed publications: 38423277, 31724321, 28129423; Changed phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.476 PEX11B Zornitza Stark Marked gene: PEX11B as ready
Cataract v0.476 PEX11B Zornitza Stark Gene: pex11b has been classified as Green List (High Evidence).
Cataract v0.476 PEX11B Zornitza Stark Phenotypes for gene: PEX11B were changed from to Peroxisome biogenesis disorder 14B - MIM#614920
Cataract v0.475 PEX11B Zornitza Stark Publications for gene: PEX11B were set to
Cataract v0.474 PEX11B Zornitza Stark Mode of inheritance for gene: PEX11B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.473 PEX11B Zornitza Stark reviewed gene: PEX11B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38423277; Phenotypes: Peroxisome biogenesis disorder 14B - MIM#614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.473 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Cataract v0.473 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Cataract v0.473 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870
Cataract v0.472 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.471 PEX10 Zornitza Stark reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.471 PEX1 Zornitza Stark Marked gene: PEX1 as ready
Cataract v0.471 PEX1 Zornitza Stark Gene: pex1 has been classified as Green List (High Evidence).
Cataract v0.471 PEX1 Zornitza Stark Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100)
Cataract v0.470 PEX1 Zornitza Stark Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.469 PEX1 Zornitza Stark reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) (MIM#214100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3860 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from 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 to PAX6-related ocular dysgenesis MONDO:0800183
Mendeliome v1.3859 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Eye Anterior Segment Abnormalities v1.18 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from Aniridia MIM# 106210; Anterior segment dysgenesis 5, multiple subtypes MIM# 6042293; Cataract with late-onset corneal dystrophy MIM# 106210; Foveal hypoplasia 1 MIM# 136520; Keratitis MIM# 148190; Optic nerve hypoplasia MIM# 165550 to PAX6-related ocular dysgenesis MONDO:0800183
Eye Anterior Segment Abnormalities v1.17 PAX6 Zornitza Stark reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: PAX6-related ocular dysgenesis MONDO:0800183; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.; to: Variants in PAX6 cause a range of eye phenotypes, which have been lumped by ClinGen. DEFINITIVE gene-disease association.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.469 PAX6 Zornitza Stark changed review comment from: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Multiple families reported with coloboma.; to: Variants in PAX6 cause a range of eye phenotypes.

PMID 31700164 reports 17 individuals (15 families) with MAC, from a cohort of 372 (4%). Seven variants altered the paired domain (p.[Arg26Gln]x1, p.[Gly36Val]x1, p.[Arg38Trp]x2, p.[Arg38Gln]x1, p.[Gly51Arg]x2, p.[Ser54Arg]x2, p.[Asn124Lys]x5) and one the homeodomain (p.[Asn260Tyr]x1). p.Ser54Arg and p.Asn124Lys were exclusively associated with severe bilateral microphthalmia. MAC-associated variants were predicted to alter but not ablate DNA interaction, consistent with the electrophoretic mobility shifts observed using mutant paired domains with well-characterized PAX6-binding sites.

Cartwheel cataract is a characteristic feature.
Cataract v0.469 PAX6 Zornitza Stark Marked gene: PAX6 as ready
Cataract v0.469 PAX6 Zornitza Stark Gene: pax6 has been classified as Green List (High Evidence).
Cataract v0.469 PAX6 Zornitza Stark Phenotypes for gene: PAX6 were changed from to PAX6-related ocular dysgenesis MONDO:0800183
Cataract v0.468 PAX6 Zornitza Stark Publications for gene: PAX6 were set to
Cataract v0.467 PAX6 Zornitza Stark Mode of inheritance for gene: PAX6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.466 PAX6 Zornitza Stark edited their review of gene: PAX6: Changed phenotypes: PAX6-related ocular dysgenesis MONDO:0800183
Cataract v0.466 Zornitza Stark Added reviews for gene PAX6 from panel Anophthalmia_Microphthalmia_Coloboma
Cataract v0.465 OPA3 Zornitza Stark Marked gene: OPA3 as ready
Cataract v0.465 OPA3 Zornitza Stark Gene: opa3 has been classified as Green List (High Evidence).
Cataract v0.465 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from to Optic atrophy 3 with cataract, MIM#165300
Cataract v0.464 OPA3 Zornitza Stark Publications for gene: OPA3 were set to
Cataract v0.463 OPA3 Zornitza Stark Mode of inheritance for gene: OPA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.462 OPA3 Zornitza Stark changed review comment from: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.; to: Nine families reported in the literature with a dominant disorder, which includes cataract. Variants are missense.

MODERATE by ClinGen.
Cataract v0.462 OPA3 Zornitza Stark edited their review of gene: OPA3: Changed publications: 39166438, 25159689, 28050599, 22797356, 31119193, 24136862, 15342707
Cataract v0.462 OPA3 Zornitza Stark reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 39166438, 25159689; Phenotypes: Optic atrophy 3 with cataract, MIM#165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.462 OCRL Zornitza Stark Marked gene: OCRL as ready
Cataract v0.462 OCRL Zornitza Stark Gene: ocrl has been classified as Green List (High Evidence).
Cataract v0.462 OCRL Zornitza Stark Phenotypes for gene: OCRL were changed from to Oculocerebrorenal syndrome MONDO:0010645
Cataract v0.461 OCRL Zornitza Stark Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.460 OCRL Zornitza Stark reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Oculocerebrorenal syndrome MONDO:0010645; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Cataract v0.460 MYH9 Zornitza Stark Marked gene: MYH9 as ready
Cataract v0.460 MYH9 Zornitza Stark Gene: myh9 has been classified as Green List (High Evidence).
Cataract v0.460 MYH9 Zornitza Stark Phenotypes for gene: MYH9 were changed from to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100
Cataract v0.459 MYH9 Zornitza Stark Publications for gene: MYH9 were set to
Cataract v0.458 MYH9 Zornitza Stark Mode of inheritance for gene: MYH9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.457 MYH9 Zornitza Stark reviewed gene: MYH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 40534807; Phenotypes: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.457 MIP Zornitza Stark Marked gene: MIP as ready
Cataract v0.457 MIP Zornitza Stark Gene: mip has been classified as Green List (High Evidence).
Cataract v0.457 MIP Zornitza Stark Phenotypes for gene: MIP were changed from to Cataract 15, multiple types, MIM# 615274
Cataract v0.456 MIP Zornitza Stark Publications for gene: MIP were set to
Cataract v0.455 MIP Zornitza Stark Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.454 Zornitza Stark Added reviews for gene MIP from panel Mendeliome
Cataract v0.453 MAN2B1 Zornitza Stark Marked gene: MAN2B1 as ready
Cataract v0.453 MAN2B1 Zornitza Stark Gene: man2b1 has been classified as Green List (High Evidence).
Cataract v0.453 MAN2B1 Zornitza Stark Phenotypes for gene: MAN2B1 were changed from to Mannosidosis, alpha-, types I and II, MIM# 248500; MONDO:0009561
Cataract v0.452 MAN2B1 Zornitza Stark Publications for gene: MAN2B1 were set to
Cataract v0.451 MAN2B1 Zornitza Stark Mode of inheritance for gene: MAN2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.450 MAN2B1 Zornitza Stark changed review comment from: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.; to: Well established gene-disease association. Clinical features include intellectual disability, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed motor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment.

Lenticular spoke-like opacities are part of the phenotype.
Cataract v0.450 Zornitza Stark Added reviews for gene MAN2B1 from panel Mendeliome
Cataract v0.449 LSS Zornitza Stark Marked gene: LSS as ready
Cataract v0.449 LSS Zornitza Stark Gene: lss has been classified as Green List (High Evidence).
Cataract v0.449 CYP27A1 Zornitza Stark Marked gene: CYP27A1 as ready
Cataract v0.449 CYP27A1 Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence).
Cataract v0.449 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis MIM#213700
Cataract v0.448 CYP27A1 Zornitza Stark Publications for gene: CYP27A1 were set to
Cataract v0.447 CYP27A1 Zornitza Stark Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.446 CYP27A1 Zornitza Stark reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v1.3859 MAF Zornitza Stark Phenotypes for gene: MAF were changed from Ayme-Gripp syndrome (MIM#601088) to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088
Mendeliome v1.3858 MAF Zornitza Stark Publications for gene: MAF were set to 30160832; 34643041
Cataract v0.445 MAF Zornitza Stark Marked gene: MAF as ready
Cataract v0.445 MAF Zornitza Stark Gene: maf has been classified as Green List (High Evidence).
Cataract v0.445 MAF Zornitza Stark Phenotypes for gene: MAF were changed from to Cataract 21, multiple types, MIM# 610202; Ayme-Gripp syndrome, MIM# 601088
Cataract v0.444 MAF Zornitza Stark Publications for gene: MAF were set to
Cataract v0.443 MAF Zornitza Stark Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3857 Zornitza Stark Added reviews for gene MAF from panel Cataract
Cataract v0.442 MAF Zornitza Stark reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 38927621; Phenotypes: Cataract 21, multiple types, MIM# 610202, Ayme-Gripp syndrome, MIM# 601088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.442 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Cataract v0.442 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Cataract v0.442 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Cataract v0.441 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Cataract v0.440 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.439 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Marked gene: INPP5K as ready
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Gene: inpp5k has been classified as Green List (High Evidence).
Muscular dystrophy and myopathy_Paediatric v1.115 INPP5K Zornitza Stark Phenotypes for gene: INPP5K were changed from to Muscular dystrophy, congenital, with cataracts and intellectual disability MIM#617404
Muscular dystrophy and myopathy_Paediatric v1.114 INPP5K Zornitza Stark Publications for gene: INPP5K were set to
Muscular dystrophy and myopathy_Paediatric v1.113 INPP5K Zornitza Stark Mode of inheritance for gene: INPP5K was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy and myopathy_Paediatric v1.112 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Cataract v0.439 Zornitza Stark Added reviews for gene INPP5K from panel Mendeliome
Mendeliome v1.3856 INPP5K Zornitza Stark Tag founder tag was added to gene: INPP5K.
Cataract v0.438 HMX1 Zornitza Stark Marked gene: HMX1 as ready
Cataract v0.438 HMX1 Zornitza Stark Gene: hmx1 has been classified as Green List (High Evidence).
Cataract v0.438 HMX1 Zornitza Stark Phenotypes for gene: HMX1 were changed from to Oculoauricular syndrome, MIM#612109
Cataract v0.437 HMX1 Zornitza Stark Publications for gene: HMX1 were set to
Cataract v0.436 HMX1 Zornitza Stark Mode of inheritance for gene: HMX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.435 Zornitza Stark Added reviews for gene HMX1 from panel Mendeliome
Cataract v0.434 GNPAT Zornitza Stark Marked gene: GNPAT as ready
Cataract v0.434 GNPAT Zornitza Stark Gene: gnpat has been classified as Green List (High Evidence).
Cataract v0.434 GNPAT Zornitza Stark Phenotypes for gene: GNPAT were changed from to Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765
Cataract v0.433 GNPAT Zornitza Stark Mode of inheritance for gene: GNPAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.432 GNPAT Zornitza Stark reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rhizomelic chondrodysplasia punctata, type 2, MIM# 222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.432 GALT Zornitza Stark Marked gene: GALT as ready
Cataract v0.432 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Cataract v0.432 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosaemia, MIM# 230400
Cataract v0.431 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.430 GJA3 Zornitza Stark Marked gene: GJA3 as ready
Cataract v0.430 GJA3 Zornitza Stark Gene: gja3 has been classified as Green List (High Evidence).
Cataract v0.430 GJA3 Zornitza Stark Phenotypes for gene: GJA3 were changed from to Cataract 14, multiple types MIM#601885
Cataract v0.429 GJA3 Zornitza Stark Publications for gene: GJA3 were set to
Cataract v0.428 GJA3 Zornitza Stark Mode of inheritance for gene: GJA3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.427 Zornitza Stark Added reviews for gene GJA3 from panel Mendeliome
Cataract v0.426 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosaemia, MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.426 GALK1 Zornitza Stark Marked gene: GALK1 as ready
Cataract v0.426 GALK1 Zornitza Stark Gene: galk1 has been classified as Green List (High Evidence).
Cataract v0.426 GALK1 Zornitza Stark Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts MIM#230200
Cataract v0.425 GALK1 Zornitza Stark Mode of inheritance for gene: GALK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.424 GALK1 Zornitza Stark reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.424 FTL Zornitza Stark Marked gene: FTL as ready
Cataract v0.424 FTL Zornitza Stark Gene: ftl has been classified as Green List (High Evidence).
Cataract v0.424 FTL Zornitza Stark Phenotypes for gene: FTL were changed from to Hyperferritinemia-cataract syndrome, MIM# 600886
Cataract v0.423 FTL Zornitza Stark Mode of inheritance for gene: FTL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.422 FTL Zornitza Stark reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, MIM# 600886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.422 FOXE3 Zornitza Stark Marked gene: FOXE3 as ready
Cataract v0.422 FOXE3 Zornitza Stark Gene: foxe3 has been classified as Green List (High Evidence).
Cataract v0.422 FOXE3 Zornitza Stark Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256; Cataract 34, multiple types, MIM# 612968
Cataract v0.421 FOXE3 Zornitza Stark Mode of inheritance for gene: FOXE3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.420 FOXE3 Zornitza Stark reviewed gene: FOXE3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256, Cataract 34, multiple types, MIM# 612968; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.420 FAM126A Zornitza Stark Marked gene: FAM126A as ready
Cataract v0.420 FAM126A Zornitza Stark Gene: fam126a has been classified as Green List (High Evidence).
Cataract v0.420 FAM126A Zornitza Stark Phenotypes for gene: FAM126A were changed from to Leukodystrophy, hypomyelinating, 5, MIM#610532
Cataract v0.419 FAM126A Zornitza Stark Mode of inheritance for gene: FAM126A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.418 FAM126A Zornitza Stark reviewed gene: FAM126A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 5, MIM#610532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.418 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Cataract v0.418 CRYAB Zornitza Stark Gene: cryab has been classified as Green List (High Evidence).
Cataract v0.418 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cataract 16, multiple types (MIM#613763)
Cataract v0.417 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Cataract v0.416 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cataract v0.415 ERCC8 Zornitza Stark Marked gene: ERCC8 as ready
Cataract v0.415 ERCC8 Zornitza Stark Gene: ercc8 has been classified as Green List (High Evidence).
Cataract v0.415 ERCC8 Zornitza Stark Phenotypes for gene: ERCC8 were changed from to Cockayne syndrome, type A, MIM# 216400
Cataract v0.414 ERCC8 Zornitza Stark Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.413 ERCC8 Zornitza Stark reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type A, MIM# 216400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.413 ERCC6 Zornitza Stark Marked gene: ERCC6 as ready
Cataract v0.413 ERCC6 Zornitza Stark Gene: ercc6 has been classified as Green List (High Evidence).
Cataract v0.413 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from to Cockayne syndrome, type B, MIM#133540; Cerebrooculofacioskeletal syndrome 1, MIM#214150
Cataract v0.412 ERCC6 Zornitza Stark Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.411 ERCC6 Zornitza Stark reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cockayne syndrome, type B, MIM#133540, Cerebrooculofacioskeletal syndrome 1, MIM#214150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.411 ERCC3 Zornitza Stark Marked gene: ERCC3 as ready
Cataract v0.411 ERCC3 Zornitza Stark Gene: ercc3 has been classified as Green List (High Evidence).
Cataract v0.411 ERCC3 Zornitza Stark Phenotypes for gene: ERCC3 were changed from to Xeroderma pigmentosum, group B, MIM# 610651
Cataract v0.410 ERCC3 Zornitza Stark Mode of inheritance for gene: ERCC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.409 ERCC3 Zornitza Stark reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Xeroderma pigmentosum, group B, MIM# 610651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.409 ERCC2 Zornitza Stark Marked gene: ERCC2 as ready
Cataract v0.409 ERCC2 Zornitza Stark Gene: ercc2 has been classified as Green List (High Evidence).
Cataract v0.409 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from to Cerebrooculofacioskeletal syndrome 2, MIM# 610756
Cataract v0.408 ERCC2 Zornitza Stark Mode of inheritance for gene: ERCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.407 ERCC2 Zornitza Stark reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.407 COL4A1 Zornitza Stark Marked gene: COL4A1 as ready
Cataract v0.407 COL4A1 Zornitza Stark Gene: col4a1 has been classified as Green List (High Evidence).
Cataract v0.407 COL4A1 Zornitza Stark Phenotypes for gene: COL4A1 were changed from to COL4A1-related disorder MONDO:0800461
Cataract v0.406 COL4A1 Zornitza Stark Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.405 COL4A1 Zornitza Stark changed review comment from: Congenital cataracts reported.; to: Congenital cataracts reported in around 18%.
Cataract v0.405 COL4A1 Zornitza Stark edited their review of gene: COL4A1: Changed publications: 39016117
Cataract v0.405 COL4A1 Zornitza Stark reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: COL4A1-related disorder MONDO:0800461; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.405 COL2A1 Zornitza Stark Marked gene: COL2A1 as ready
Cataract v0.405 COL2A1 Zornitza Stark Gene: col2a1 has been classified as Green List (High Evidence).
Cataract v0.405 COL2A1 Zornitza Stark Phenotypes for gene: COL2A1 were changed from to Collagenopathy type 2 alpha 1, MONDO:0022800
Cataract v0.404 COL2A1 Zornitza Stark Mode of inheritance for gene: COL2A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.403 COL2A1 Zornitza Stark reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Collagenopathy type 2 alpha 1, MONDO:0022800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.403 COL18A1 Zornitza Stark Marked gene: COL18A1 as ready
Cataract v0.403 COL18A1 Zornitza Stark Gene: col18a1 has been classified as Green List (High Evidence).
Cataract v0.403 COL18A1 Zornitza Stark Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 MIM# 267750
Cataract v0.402 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.401 COL18A1 Zornitza Stark Mode of inheritance for gene: COL18A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.400 COL18A1 Zornitza Stark reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Knobloch syndrome, type 1 MIM# 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.400 COL11A1 Zornitza Stark Marked gene: COL11A1 as ready
Cataract v0.400 COL11A1 Zornitza Stark Gene: col11a1 has been classified as Green List (High Evidence).
Cataract v0.400 COL11A1 Zornitza Stark Phenotypes for gene: COL11A1 were changed from to Marshall syndrome (MIM#154780); Stickler syndrome, type II (MIM#604841)
Cataract v0.399 COL11A1 Zornitza Stark Mode of inheritance for gene: COL11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.398 COL11A1 Zornitza Stark reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marshall syndrome (MIM#154780), Stickler syndrome, type II (MIM#604841); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Renal Macrocystic Disease v0.103 BICC1 Zornitza Stark Marked gene: BICC1 as ready
Renal Macrocystic Disease v0.103 BICC1 Zornitza Stark Gene: bicc1 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.103 BICC1 Zornitza Stark Classified gene: BICC1 as Amber List (moderate evidence)
Renal Macrocystic Disease v0.103 BICC1 Zornitza Stark Gene: bicc1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3856 HCN2 Zornitza Stark Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874
Mendeliome v1.3855 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: PMID 40468825 reports 21 individuals with HCN2 variants from 15 unrelated families. The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thirteen pathogenic variants (12 new and 1 already described) were identified: 11 missense (8 monoallelic and 3 biallelic), 1 recurrent inframe deletion (monoallelic), and 1 frameshift (biallelic). Functional analysis of p.(Arg324His) variant showed a strong increase of HCN2 conductance, whereas p.(Ala363Val) and p.(Met374Leu) exhibited dominant negative effects. The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking. Structural 3D-analysis revealed that, except for p.(Arg324His), all variants altered HCN2 stability.; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874, 40468825
Intellectual disability syndromic and non-syndromic v1.528 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Neurodevelopmental disorder (MONDO#0700092), HCN2-related to Neurodevelopmental disorder (MONDO#0700092), HCN2-related; Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477
Intellectual disability syndromic and non-syndromic v1.527 HCN2 Zornitza Stark Classified gene: HCN2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v1.527 HCN2 Zornitza Stark Gene: hcn2 has been classified as Green List (High Evidence).
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3855 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Mendeliome v1.3854 BICC1 Chirag Patel Publications for gene: BICC1 were set to 21922595
Mendeliome v1.3853 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3853 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3852 BICC1 Chirag Patel Phenotypes for gene: BICC1 were changed from {Renal dysplasia, cystic, susceptibility to}; OMIM #601331 to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3851 BICC1 Chirag Patel Mode of inheritance for gene: BICC1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3850 BICC1 Chirag Patel Classified gene: BICC1 as Amber List (moderate evidence)
Mendeliome v1.3850 BICC1 Chirag Patel Gene: bicc1 has been classified as Amber List (Moderate Evidence).
Renal Macrocystic Disease v0.102 BICC1 Chirag Patel Classified gene: BICC1 as Red List (low evidence)
Renal Macrocystic Disease v0.102 BICC1 Chirag Patel Gene: bicc1 has been classified as Red List (Low Evidence).
Renal Macrocystic Disease v0.101 Chirag Patel Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Renal Macrocystic Disease v0.101 BICC1 Chirag Patel gene: BICC1 was added
gene: BICC1 was added to Renal Macrocystic Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337
Phenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642
Mendeliome v1.3849 Chirag Patel Added reviews for gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
Intellectual disability syndromic and non-syndromic v1.526 HCN2 Zornitza Stark reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v1.322 HCN2 Zornitza Stark Phenotypes for gene: HCN2 were changed from Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders to Generalized epilepsy with febrile seizures plus, type 11, MIM# 602477; Febrile seizures, familial, 2, MIM# 602477; Genetic epilepsy with febrile seizures plus; Other seizure disorders
Genetic Epilepsy v1.321 HCN2 Zornitza Stark Publications for gene: HCN2 were set to 22131395; 30986657; 29064616; 20437590; 12514127; 17931874
Genetic Epilepsy v1.320 HCN2 Zornitza Stark edited their review of gene: HCN2: Added comment: PMID 40468825 reports 21 individuals with HCN2 variants from 15 unrelated families. The phenotypic spectrum included developmental delay/intellectual disability (DD/ID, 17/21), epilepsy (10/21), language disorders (16/21), movement disorders (12/21), and axial hypotonia (10/21). Thirteen pathogenic variants (12 new and 1 already described) were identified: 11 missense (8 monoallelic and 3 biallelic), 1 recurrent inframe deletion (monoallelic), and 1 frameshift (biallelic). Functional analysis of p.(Arg324His) variant showed a strong increase of HCN2 conductance, whereas p.(Ala363Val) and p.(Met374Leu) exhibited dominant negative effects. The p.(Leu377His), p.(Pro493Leu), and p.(Gly587Asp) variants rendered HCN2 electrophysiologically silent and impaired membrane trafficking. Structural 3D-analysis revealed that, except for p.(Arg324His), all variants altered HCN2 stability.; Changed rating: GREEN; Changed publications: 22131395, 30986657, 29064616, 20437590, 12514127, 17931874, 40468825
Syndromic Retinopathy v0.245 AHI1 Zornitza Stark Marked gene: AHI1 as ready
Syndromic Retinopathy v0.245 AHI1 Zornitza Stark Gene: ahi1 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.245 AHI1 Zornitza Stark Phenotypes for gene: AHI1 were changed from Joubert syndrome 17 to Joubert syndrome 3, MIM# 608629
Syndromic Retinopathy v0.244 AHI1 Zornitza Stark Publications for gene: AHI1 were set to
Syndromic Retinopathy v0.243 AHI1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association, retinal dystrophy is a feature.
Syndromic Retinopathy v0.243 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Syndromic Retinopathy v0.243 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.243 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Syndromic Retinopathy v0.242 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Syndromic Retinopathy v0.241 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Syndromic Retinopathy v0.240 AFG3L2 Zornitza Stark Classified gene: AFG3L2 as Red List (low evidence)
Syndromic Retinopathy v0.240 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.239 AFG3L2 Zornitza Stark changed review comment from: OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.; to: OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.

Optic atrophy rather than retinopathy, not within panel scope.
Syndromic Retinopathy v0.239 AFG3L2 Zornitza Stark edited their review of gene: AFG3L2: Changed rating: RED
Syndromic Retinopathy v0.239 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Syndromic Retinopathy v0.239 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.239 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from Infantile cerebellar-retinal degeneration, 614559 to Infantile cerebellar-retinal degeneration, MIM#614559
Syndromic Retinopathy v0.238 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Syndromic Retinopathy v0.237 ABHD12 Zornitza Stark Marked gene: ABHD12 as ready
Syndromic Retinopathy v0.237 ABHD12 Zornitza Stark Gene: abhd12 has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.237 ABHD12 Zornitza Stark Phenotypes for gene: ABHD12 were changed from Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa andCataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 614857 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, MIM# 612674
Syndromic Retinopathy v0.236 ABHD12 Zornitza Stark Publications for gene: ABHD12 were set to
Syndromic Retinopathy v0.235 ABHD12 Zornitza Stark changed review comment from: More than 5 unrelated families reported, progressive condition.; to: More than 5 unrelated families reported, progressive condition. RP is part of a more complex phenotype.
Ataxia v1.181 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Ataxia v1.181 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Ataxia v1.181 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from Primary coenzyme Q10 deficiency 4, 612016; Spinocerebellar Ataxia Type; Coenzyme Q10 deficiency, primary 4, 612016 to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Ataxia v1.180 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Ataxia v1.179 CLN6 Zornitza Stark Marked gene: CLN6 as ready
Ataxia v1.179 CLN6 Zornitza Stark Gene: cln6 has been classified as Green List (High Evidence).
Ataxia v1.179 CLN6 Zornitza Stark Phenotypes for gene: CLN6 were changed from Ceroid neuronal lipofuscinosis 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Ceroid neuronal lipofuscinosis kufs type, 204300; Ceroid lipofuscinosis, neuronal, 6, 601780 to Ceroid lipofuscinosis, neuronal, 6, MIM# 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300
Ataxia v1.178 CLN6 Zornitza Stark Publications for gene: CLN6 were set to
Ataxia v1.177 CLN6 Zornitza Stark reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Ataxia v1.177 CLCN2 Zornitza Stark Marked gene: CLCN2 as ready
Ataxia v1.177 CLCN2 Zornitza Stark Gene: clcn2 has been classified as Green List (High Evidence).
Ataxia v1.177 CLCN2 Zornitza Stark Phenotypes for gene: CLCN2 were changed from {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 to Leukoencephalopathy with ataxia, MIM# 615651
Ataxia v1.176 CLCN2 Zornitza Stark Publications for gene: CLCN2 were set to
Ataxia v1.175 CLCN2 Zornitza Stark Mode of inheritance for gene: CLCN2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Ataxia v1.174 CLCN2 Zornitza Stark changed review comment from: Association with hyperaldosteronism: Familial hyperaldosteronism type II is an autosomal dominant disorder characterized by hypertension due to increased aldosterone, often with hypokalemia. Patients usually present before age 20 years, although some may present in infancy. The disorder shows incomplete penetrance and variable expressivity; some patients may have normal blood pressure but have an increased aldosterone:renin ratio (ARR) on laboratory testing. At least 6 unrelated families reported. Note bi-allelic variants cause a different phenotype.

Association with leukodystrophy: At least six families reported, three with adult onset and three with childhood onset.; to: Association with leukodystrophy is the one relevant to this panel: At least six families reported, three with adult onset and three with childhood onset.
Ataxia v1.174 CLCN2 Zornitza Stark edited their review of gene: CLCN2: Changed phenotypes: Leukoencephalopathy with ataxia, MIM# 615651; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia v1.174 CEP41 Zornitza Stark Marked gene: CEP41 as ready
Ataxia v1.174 CEP41 Zornitza Stark Gene: cep41 has been classified as Green List (High Evidence).
Ataxia v1.174 CEP41 Zornitza Stark Phenotypes for gene: CEP41 were changed from Joubert syndrome 15 to Joubert syndrome 15, MIM# 614464
Ataxia v1.173 CEP41 Zornitza Stark Publications for gene: CEP41 were set to
Ataxia v1.172 CEP290 Zornitza Stark Marked gene: CEP290 as ready
Ataxia v1.172 CEP290 Zornitza Stark Gene: cep290 has been classified as Green List (High Evidence).
Ataxia v1.172 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome 5 to Joubert syndrome 5, MIM# 610188
Ataxia v1.171 CEP290 Zornitza Stark Publications for gene: CEP290 were set to
Ataxia v1.170 CC2D2A Zornitza Stark Marked gene: CC2D2A as ready
Ataxia v1.170 CC2D2A Zornitza Stark Gene: cc2d2a has been classified as Green List (High Evidence).
Ataxia v1.170 CC2D2A Zornitza Stark Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9 to Joubert syndrome 9, MIM#612285
Ataxia v1.169 CC2D2A Zornitza Stark Publications for gene: CC2D2A were set to
Ataxia v1.168 CASK Zornitza Stark Marked gene: CASK as ready
Ataxia v1.168 CASK Zornitza Stark Gene: cask has been classified as Green List (High Evidence).
Ataxia v1.168 CASK Zornitza Stark Phenotypes for gene: CASK were changed from FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 to FG syndrome 4, 300422; Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749
Ataxia v1.167 BCKDHB Zornitza Stark Marked gene: BCKDHB as ready
Ataxia v1.167 BCKDHB Zornitza Stark Gene: bckdhb has been classified as Green List (High Evidence).
Ataxia v1.167 ATP13A2 Zornitza Stark Marked gene: ATP13A2 as ready
Ataxia v1.167 ATP13A2 Zornitza Stark Gene: atp13a2 has been classified as Green List (High Evidence).
Ataxia v1.167 ABCD1 Zornitza Stark Marked gene: ABCD1 as ready
Ataxia v1.167 ABCD1 Zornitza Stark Gene: abcd1 has been classified as Green List (High Evidence).
Ataxia v1.167 ABCD1 Zornitza Stark Phenotypes for gene: ABCD1 were changed from Adrenoleukodystrophy to Adrenoleukodystrophy MIM# 300100, XLR
Ataxia v1.166 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Ataxia v1.166 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Ataxia v1.166 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from Anemia, sideroblastic, with ataxia; Sideroblastic Anemia and Ataxia; Anemia, sideroblast with ataxia, 300135 to Anaemia, sideroblastic, with ataxia, MIM# 301310
Ataxia v1.165 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.50 Zornitza Stark Copied gene DNAJA3 from panel Mendeliome
Hereditary Neuropathy v1.50 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Literature,Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860; 41354729
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Fetal anomalies v1.492 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164
Fetal anomalies v1.491 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Fetal anomalies v1.490 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Fetal anomalies v1.490 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Fetal anomalies v1.489 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis - MIM#606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting disorders v0.298 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164; Cleft palate
Clefting disorders v0.297 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Clefting disorders v0.296 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Clefting disorders v0.296 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Clefting disorders v0.295 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Red cell disorders v1.40 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Red cell disorders v1.40 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Red cell disorders v1.39 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.59 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Pierre Robin Sequence v0.58 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Pierre Robin Sequence v0.58 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Pierre Robin Sequence v0.57 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Mendeliome v1.3848 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Mendeliome v1.3847 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Mendeliome v1.3846 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Mendeliome v1.3846 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Mendeliome v1.3845 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Mandibulofacial Acrofacial dysostosis v1.17 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Mandibulofacial Acrofacial dysostosis v1.16 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Mandibulofacial Acrofacial dysostosis v1.15 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Mandibulofacial Acrofacial dysostosis v1.15 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Mandibulofacial Acrofacial dysostosis v1.14 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709; Changed phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Bone Marrow Failure v1.135 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Bone Marrow Failure v1.134 RPS28 Zornitza Stark Publications for gene: RPS28 were set to PMID: 24942156
Bone Marrow Failure v1.133 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Bone Marrow Failure v1.133 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Bone Marrow Failure v1.132 RPS28 Zornitza Stark changed review comment from: ID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; to: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence
Bone Marrow Failure v1.132 RPS28 Zornitza Stark reviewed gene: RPS28: Rating: GREEN; Mode of pathogenicity: None; Publications: 40135709; Phenotypes: Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Diamond Blackfan anaemia v1.14 RPS28 Zornitza Stark Phenotypes for gene: RPS28 were changed from Diamond Blackfan anemia 15 with mandibulofacial dysostosis, MIM# 606164 to Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164
Diamond Blackfan anaemia v1.13 RPS28 Zornitza Stark Publications for gene: RPS28 were set to 24942156
Diamond Blackfan anaemia v1.12 RPS28 Zornitza Stark Classified gene: RPS28 as Green List (high evidence)
Diamond Blackfan anaemia v1.12 RPS28 Zornitza Stark Gene: rps28 has been classified as Green List (High Evidence).
Diamond Blackfan anaemia v1.11 RPS28 Zornitza Stark edited their review of gene: RPS28: Added comment: PMID 40135709 reports a new individual with a heterozygous de novo start‑codon loss‑of‑function variant (c.2T>C) causing Diamond‑Blackfan anaemia and Pierre Robin sequence; Changed rating: GREEN; Changed publications: 24942156, 40135709
Mitochondrial disease v1.1 DNAJA3 Zornitza Stark Publications for gene: DNAJA3 were set to 34750646; 30770860
Mitochondrial disease v1.0 DNAJA3 Zornitza Stark edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729
Mendeliome v1.3845 DNAJA3 Zornitza Stark Publications for gene: DNAJA3 were set to 34750646; 30770860
Mendeliome v1.3844 DNAJA3 Zornitza Stark edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729
Renal Ciliopathies and Nephronophthisis v1.48 TMEM72 Zornitza Stark Marked gene: TMEM72 as ready
Renal Ciliopathies and Nephronophthisis v1.48 TMEM72 Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.48 TMEM72 Zornitza Stark Classified gene: TMEM72 as Amber List (moderate evidence)
Renal Ciliopathies and Nephronophthisis v1.48 TMEM72 Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence).
Renal Ciliopathies and Nephronophthisis v1.47 TMEM72 Zornitza Stark gene: TMEM72 was added
gene: TMEM72 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature
Mode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM72 were set to 41308066
Phenotypes for gene: TMEM72 were set to Nephronophthisis, MONDO:0019005, TMEM72-related
Review for gene: TMEM72 was set to AMBER
Added comment: PMID 41308066 reports nine individuals from six families with biallelic TMEM72 variants. However, families A-C share same variant and haplotype, suggestive of a found effect. Further, the variant is p.Gln2*, which likely escapes NMD. Clinical presentation was nephronophthisis‑like kidney disease with adult‑onset kidney failure, hypertension and polyuria. One family (F) had homozygous missense variant, p.Gly124Ser, and showed prenatal‑onset cystic kidney disease, vesicoureteral reflux and early epilepsy. Functional studies demonstrate reduced TMEM72 expression and ciliary localisation.

Concerns about the quality of the genetic and experimental data, hence Amber rating.
Sources: Literature
Mendeliome v1.3844 TMEM72 Zornitza Stark Marked gene: TMEM72 as ready
Mendeliome v1.3844 TMEM72 Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3844 TMEM72 Zornitza Stark Classified gene: TMEM72 as Amber List (moderate evidence)
Mendeliome v1.3844 TMEM72 Zornitza Stark Gene: tmem72 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3843 TMEM72 Zornitza Stark gene: TMEM72 was added
gene: TMEM72 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: TMEM72 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM72 were set to 41308066
Phenotypes for gene: TMEM72 were set to Nephronophthisis, MONDO:0019005, TMEM72-related
Review for gene: TMEM72 was set to AMBER
Added comment: PMID 41308066 reports nine individuals from six families with biallelic TMEM72 variants. However, families A-C share same variant and haplotype, suggestive of a found effect. Further, the variant is p.Gln2*, which likely escapes NMD. Clinical presentation was nephronophthisis‑like kidney disease with adult‑onset kidney failure, hypertension and polyuria. One family (F) had homozygous missense variant, p.Gly124Ser, and showed prenatal‑onset cystic kidney disease, vesicoureteral reflux and early epilepsy. Functional studies demonstrate reduced TMEM72 expression and ciliary localisation.

Concerns about the quality of the genetic and experimental data, hence Amber rating.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.526 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.526 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.320 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Amber List (moderate evidence)
Genetic Epilepsy v1.320 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3842 PPP1R3F Zornitza Stark Classified gene: PPP1R3F as Amber List (moderate evidence)
Mendeliome v1.3842 PPP1R3F Zornitza Stark Gene: ppp1r3f has been classified as Amber List (Moderate Evidence).
Osteopetrosis v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v1.3841 LRP6 Zornitza Stark Phenotypes for gene: LRP6 were changed from Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268 to Osteopetrosis, autosomal dominant 4, MIM# 621449; Tooth agenesis, selective, 7, MIM# 616724; Exudative vitreoretinopathy 8, MIM# 621268
Mendeliome v1.3840 LRP6 Zornitza Stark Publications for gene: LRP6 were set to 26387593; 34896607
Mendeliome v1.3839 LRP6 Zornitza Stark changed review comment from: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model.; to: Association with vitreoretinopathy: 8 individuals from 3 unrelated families reported, all with missense variants. Insufficient segregation evidence in two of the families. Supportive mouse model. AMBER for this association.
Mendeliome v1.3839 LRP6 Zornitza Stark edited their review of gene: LRP6: Added comment: Association with osteopetrosis: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth. GREEN for this association.; Changed rating: GREEN; Changed publications: 34896607, 31085352, 32730923, 37065631, 38385987; Changed phenotypes: Exudative vitreoretinopathy 8, MIM# 621268, Osteopetrosis, autosomal dominant 4, MIM# 621449
Osteopetrosis v0.100 LRP6 Zornitza Stark Marked gene: LRP6 as ready
Osteopetrosis v0.100 LRP6 Zornitza Stark Gene: lrp6 has been classified as Green List (High Evidence).
Osteopetrosis v0.100 LRP6 Zornitza Stark Classified gene: LRP6 as Green List (high evidence)
Osteopetrosis v0.100 LRP6 Zornitza Stark Gene: lrp6 has been classified as Green List (High Evidence).
Osteopetrosis v0.99 LRP6 Zornitza Stark gene: LRP6 was added
gene: LRP6 was added to Osteopetrosis. Sources: Expert List
Mode of inheritance for gene: LRP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP6 were set to 31085352; 32730923; 37065631; 38385987
Phenotypes for gene: LRP6 were set to Osteopetrosis, autosomal dominant 4, MIM# 621449
Review for gene: LRP6 was set to GREEN
Added comment: 5 families reported with a dentoosseous disorder characterised by enhanced osteoblast-mediated bone formation resulting in generalized osteosclerosis and endosteal hyperostosis. Other features include missing teeth, torus palatinus, and intraoral exostoses that sometimes surround teeth.
Sources: Expert List
Mendeliome v1.3839 RRP12 Zornitza Stark Phenotypes for gene: RRP12 were changed from Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications to Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452
Mendeliome v1.3838 RRP12 Zornitza Stark reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Brain Calcification v2.2 RRP12 Zornitza Stark Phenotypes for gene: RRP12 were changed from Syndromic disease, MONDO:0002254, RRP12-related; Brain calcifications to Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452
Brain Calcification v2.1 RRP12 Zornitza Stark reviewed gene: RRP12: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 11, autosomal recessive, MIM# 621452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3838 USP25 Zornitza Stark Tag disputed tag was added to gene: USP25.
Mendeliome v1.3838 USP25 Zornitza Stark Classified gene: USP25 as Red List (low evidence)
Mendeliome v1.3838 USP25 Zornitza Stark Gene: usp25 has been classified as Red List (Low Evidence).
Mendeliome v1.3837 USP25 Zornitza Stark reviewed gene: USP25: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v1.319 USP25 Zornitza Stark Classified gene: USP25 as Red List (low evidence)
Genetic Epilepsy v1.319 USP25 Zornitza Stark Gene: usp25 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.318 USP25 Zornitza Stark Tag disputed tag was added to gene: USP25.
Genetic Epilepsy v1.318 USP25 Zornitza Stark edited their review of gene: USP25: Added comment: DISPUTED by ClinGen.; Changed rating: RED
Intellectual disability syndromic and non-syndromic v1.525 PPP1R3F Paul De Fazio reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Genetic Epilepsy v1.318 PPP1R3F Paul De Fazio reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v1.3837 PPP1R3F Paul De Fazio reviewed gene: PPP1R3F: Rating: AMBER; Mode of pathogenicity: None; Publications: 37531237; Phenotypes: Neurodevelopmental Disorder, MONDO:0700092,PPP1R3F-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Repeat Disorders v0.270 MARCHF6_FAME3_TTTCA Bryony Thompson MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA
Genetic Epilepsy v1.318 MARCHF6_FAME3_TTTCA Bryony Thompson MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA
Mendeliome v1.3837 MARCHF6_FAME3_TTTCA Bryony Thompson MARCH6_FAME3_TTTCA was changed to MARCHF6_FAME3_TTTCA
Mendeliome v1.3836 Bryony Thompson Copied STR MARCH6_FAME3_TTTCA from panel Genetic Epilepsy
Mendeliome v1.3836 MARCH6_FAME3_TTTCA Bryony Thompson STR: MARCH6_FAME3_TTTCA was added
STR: MARCH6_FAME3_TTTCA was added to Mendeliome. Sources: Expert Review Green,Literature
Mode of inheritance for STR: MARCH6_FAME3_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: MARCH6_FAME3_TTTCA were set to 31664039
Phenotypes for STR: MARCH6_FAME3_TTTCA were set to Epilepsy, familial adult myoclonic, 3 MIM#613608
Deafness_IsolatedAndComplex v1.310 DDX11 Zornitza Stark Marked gene: DDX11 as ready
Deafness_IsolatedAndComplex v1.310 DDX11 Zornitza Stark Gene: ddx11 has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence).
Fetal anomalies v1.489 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Fetal anomalies v1.489 KIF21A Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.525 KIF21A Zornitza Stark Publications for gene: KIF21A were set to
Hereditary Neuropathy v1.49 KIF21A Zornitza Stark Marked gene: KIF21A as ready
Hereditary Neuropathy v1.49 KIF21A Zornitza Stark Gene: kif21a has been classified as Green List (High Evidence).
Congenital Heart Defect v0.513 ISCA-37423-Loss Zornitza Stark Marked Region: ISCA-37423-Loss as ready
Congenital Heart Defect v0.513 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37423-Loss Zornitza Stark Marked Region: ISCA-37423-Loss as ready
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37423-Loss Zornitza Stark Region: isca-37423-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37424-Loss Zornitza Stark Marked Region: ISCA-37424-Loss as ready
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.155 ISCA-37424-Loss Zornitza Stark Marked Region: ISCA-37424-Loss as ready
Macrocephaly_Megalencephaly v0.155 ISCA-37424-Loss Zornitza Stark Region: isca-37424-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37425-Gain Zornitza Stark Marked Region: ISCA-37425-Gain as ready
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Microcephaly v1.381 ISCA-37425-Gain Zornitza Stark Marked Region: ISCA-37425-Gain as ready
Microcephaly v1.381 ISCA-37425-Gain Zornitza Stark Region: isca-37425-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.155 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Macrocephaly_Megalencephaly v0.155 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Overgrowth v1.17 ISCA-37425-Loss Zornitza Stark Marked Region: ISCA-37425-Loss as ready
Overgrowth v1.17 ISCA-37425-Loss Zornitza Stark Region: isca-37425-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.317 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Genetic Epilepsy v1.317 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Growth failure v1.88 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Growth failure v1.88 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Intellectual disability syndromic and non-syndromic v1.524 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Microcephaly v1.381 ISCA-37429-Loss Zornitza Stark Marked Region: ISCA-37429-Loss as ready
Microcephaly v1.381 ISCA-37429-Loss Zornitza Stark Region: isca-37429-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.524 BAZ2B Zornitza Stark Publications for gene: BAZ2B were set to 31999386
Intellectual disability syndromic and non-syndromic v1.523 BAZ2B Zornitza Stark edited their review of gene: BAZ2B: Changed rating: AMBER
Autism v0.235 BAZ2B Zornitza Stark Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Mendeliome v1.3835 BAZ2B Zornitza Stark Publications for gene: BAZ2B were set to 31999386; 28135719; 25363768
Pulmonary Fibrosis_Interstitial Lung Disease v1.0 Zornitza Stark promoted panel to version 1.0
Pulmonary Fibrosis_Interstitial Lung Disease v0.207 ACD Zornitza Stark Publications for gene: ACD were set to 31515401; 27807141; 25205116
Pulmonary Fibrosis_Interstitial Lung Disease v0.206 ACD Zornitza Stark Mode of pathogenicity for gene: ACD was changed from Other to None
Pulmonary Fibrosis_Interstitial Lung Disease v0.205 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.204 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.204 ACD Zornitza Stark Mode of inheritance for gene: ACD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.203 ACD Zornitza Stark Classified gene: ACD as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.203 ACD Zornitza Stark Gene: acd has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.203 ACD Zornitza Stark Classified gene: ACD as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.203 ACD Zornitza Stark Gene: acd has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.202 ACD Zornitza Stark reviewed gene: ACD: Rating: GREEN; Mode of pathogenicity: None; Publications: 38176734, 31515401; Phenotypes: pulmonary fibrosis and/or bone marrow failure, telomere-related MONDO:0000148; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.202 POT1 Zornitza Stark Marked gene: POT1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.202 POT1 Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.202 POT1 Zornitza Stark Classified gene: POT1 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.202 POT1 Zornitza Stark Gene: pot1 has been classified as Amber List (Moderate Evidence).
Incidentalome v0.371 POT1 Zornitza Stark Phenotypes for gene: POT1 were changed from Hereditary neoplastic syndrome, MONDO:0015356, POT1-related to Telomere syndrome, MONDO:0100137, POT1-related
Incidentalome v0.370 POT1 Zornitza Stark edited their review of gene: POT1: Changed phenotypes: Telomere syndrome, MONDO:0100137, POT1-related
Pulmonary Fibrosis_Interstitial Lung Disease v0.201 POT1 Zornitza Stark gene: POT1 was added
gene: POT1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: POT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POT1 were set to 35420632; 30995915
Phenotypes for gene: POT1 were set to Telomere syndrome, MONDO:0100137, POT1-related
Review for gene: POT1 was set to AMBER
Added comment: PMID 30995915 reports one individual with a heterozygous POT1 p.Q301H missense variant and adult‑onset progressive pulmonary fibrosis. PMID 35420632 reports 4 individuals from another unrelated family with a heterozygous POT1 p.L259S missense variant and adult‑onset idiopathic pulmonary fibrosis; the variant co‑segregates across two generations, shows genetic anticipation, and functional assays demonstrate loss‑of‑function. Telomere biology disorder.
Sources: Literature
Bone Marrow Failure v1.132 POT1 Zornitza Stark Phenotypes for gene: POT1 were changed from Hereditary neoplastic syndrome, MONDO:0015356, POT1-related to Telomere syndrome, MONDO:0100137, POT1-related
Bone Marrow Failure v1.131 POT1 Zornitza Stark reviewed gene: POT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Telomere syndrome, MONDO:0100137, POT1-related; Mode of inheritance: None
Pulmonary Fibrosis_Interstitial Lung Disease v0.200 NPC2 Zornitza Stark Marked gene: NPC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.200 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.200 NPC2 Zornitza Stark Phenotypes for gene: NPC2 were changed from Niemann-pick disease, type C2 MIM#607625 to Niemann-Pick disease, type C2 MIM#607625
Pulmonary Fibrosis_Interstitial Lung Disease v0.199 NPC2 Zornitza Stark Classified gene: NPC2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.199 NPC2 Zornitza Stark Gene: npc2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.198 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPC2 were set to 36553254; 26024245; 25772320
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2 MIM#607625
Review for gene: NPC2 was set to GREEN
Added comment: PMID 25772320 reports 3 families; PMID 26024245 reports 1 family; PMID 28095804 reports 2 families; PMID 36553254 reports 1 family; PMID 39789920 reports 2 families (including 1 overlapping with PMID 26024245). In total 8 unrelated families (11 patients) present with Niemann‑Pick disease type C2 characterised by early‑onset interstitial lung disease/pulmonary alveolar proteinosis, and other features such as hepatosplenomegaly, and neurodevelopmental delay.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.197 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.197 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.197 NDUFAF6 Zornitza Stark Classified gene: NDUFAF6 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.197 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.196 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
founder tags were added to gene: NDUFAF6.
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF6 were set to 27466185
Phenotypes for gene: NDUFAF6 were set to Fanconi renotubular syndrome 5, MIM# 618913
Review for gene: NDUFAF6 was set to AMBER
Added comment: PMID 27466185 reports 12 individuals from 8 unrelated families with biallelic intronic NDUFAF6 variants presenting with Acadian variant of Fanconi syndrome (renal Fanconi syndrome from birth, progressive chronic kidney disease, pulmonary interstitial fibrosis). Supportive functional data. Founder variant. No evidence other variants in this gene cause a lung phenotype.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.195 Zornitza Stark Copied gene MUC5B from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v0.195 MUC5B Zornitza Stark gene: MUC5B was added
gene: MUC5B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
5'UTR tags were added to gene: MUC5B.
Mode of inheritance for gene: MUC5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC5B were set to 21506741; 21506748
Phenotypes for gene: MUC5B were set to {Pulmonary fibrosis, idiopathic, susceptibility to}, MIM# 178500
Pulmonary Fibrosis_Interstitial Lung Disease v0.194 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.194 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.194 MMACHC Zornitza Stark Classified gene: MMACHC as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.194 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.193 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 33231183; 32293809
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400
Review for gene: MMACHC was set to GREEN
Added comment: PMID 32293809 reports four unrelated families and PMID 33231183 reports one unrelated family with MMACHC variants presenting with childhood‑onset diffuse interstitial lung disease, alveolar hemorrhage, pulmonary microangiopathy and pulmonary arterial hypertension; PMID 31969166 adds five additional individuals with MMACHC variants and interstitial lung disease.
Sources: Literature
Mendeliome v1.3834 LAMP3 Zornitza Stark Marked gene: LAMP3 as ready
Mendeliome v1.3834 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3834 Zornitza Stark Copied gene LAMP3 from panel Pulmonary Fibrosis_Interstitial Lung Disease
Mendeliome v1.3834 LAMP3 Zornitza Stark gene: LAMP3 was added
gene: LAMP3 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: LAMP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMP3 were set to 40023045; 34161347
Phenotypes for gene: LAMP3 were set to Interstitial lung disease, MONDO:0015925, LAMP3-related
Pulmonary Fibrosis_Interstitial Lung Disease v0.192 LAMP3 Zornitza Stark Marked gene: LAMP3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.192 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.192 LAMP3 Zornitza Stark Classified gene: LAMP3 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.192 LAMP3 Zornitza Stark Gene: lamp3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.191 LAMP3 Zornitza Stark gene: LAMP3 was added
gene: LAMP3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: LAMP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMP3 were set to 40023045; 34161347
Phenotypes for gene: LAMP3 were set to Interstitial lung disease, MONDO:0015925, LAMP3-related
Review for gene: LAMP3 was set to AMBER
Added comment: PMID 40023045 reports a proband from one family with bi‑allelic loss‑of‑function LAMP3 variants causing childhood interstitial lung disease, and references three additional unrelated families (total 4 families, ≥5 individuals) with similar chILD phenotypes but details on these are scant. Supportive mouse model published previously PMID 34161347.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.190 IFIH1 Zornitza Stark Marked gene: IFIH1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.190 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.190 IFIH1 Zornitza Stark Classified gene: IFIH1 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.190 IFIH1 Zornitza Stark Gene: ifih1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.189 IFIH1 Zornitza Stark gene: IFIH1 was added
gene: IFIH1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IFIH1 were set to 37126154; 32508843
Phenotypes for gene: IFIH1 were set to Aicardi-Goutieres syndrome 7, MIM#615846
Review for gene: IFIH1 was set to AMBER
Added comment: PMID 32508843 reports an individual with a heterozygous gain-of-function IFIH1 p.R779H variant causing Aicardi‑Goutières syndrome with interstitial lung disease, psoriasis and pulmonary hypertension; PMID 37126154 reports a second individual with a de novo heterozygous gain-of-function IFIH1 variant causing infantile lethal interstitial lung disease. This may be be a rare but significant manifestation of AGS.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.188 IDUA Zornitza Stark Marked gene: IDUA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.188 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.188 IDUA Zornitza Stark Classified gene: IDUA as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.188 IDUA Zornitza Stark Gene: idua has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.187 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDUA were set to 37218880; 29654546
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis type 1, MONDO:0001586
Review for gene: IDUA was set to GREEN
Added comment: PMID 29654546 reports 2 individuals from 2 families and PMID 37218880 reports another individual, all with biallelic loss-of-function IDUA variants causing mucopolysaccharidosis type I (Hurler syndrome) presenting with neonatal interstitial lung disease, characterized by early respiratory failure and ground‑glass opacities.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.186 IARS Zornitza Stark Marked gene: IARS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.186 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.186 IARS Zornitza Stark Classified gene: IARS as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.186 IARS Zornitza Stark Gene: iars has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.185 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IARS were set to 40635052; 39950113
Phenotypes for gene: IARS were set to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093
Review for gene: IARS was set to GREEN
Added comment: PMID 39950113 reports an infant with biallelic IARS1 variants presenting with infantile pulmonary alveolar proteinosis, growth retardation, microcephaly, hypotonia, developmental delay and hepatopathy; PMID 40635052 reports 14 individuals from 14 unrelated families with biallelic IARS1 variants causing a recessive multisystem syndrome that includes pulmonary alveolar proteinosis in three families.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.184 HMOX1 Zornitza Stark Marked gene: HMOX1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.184 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.184 HMOX1 Zornitza Stark Classified gene: HMOX1 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.184 HMOX1 Zornitza Stark Gene: hmox1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.183 HMOX1 Zornitza Stark gene: HMOX1 was added
gene: HMOX1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMOX1 were set to 38178812; 33066778
Phenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM# 614034
Review for gene: HMOX1 was set to AMBER
Added comment: PMID 33066778 and PMID 38178812 report 2 unrelated families (2 individuals) with biallelic HMOX1 loss‑of‑function variants presenting with childhood‑onset interstitial lung disease, hyperinflammation, haemophagocytic flares and multi‑system involvement.
Sources: Literature
Pulmonary Fibrosis_Interstitial Lung Disease v0.182 CCR2 Zornitza Stark Marked gene: CCR2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.182 CCR2 Zornitza Stark Gene: ccr2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.182 CCR2 Zornitza Stark Classified gene: CCR2 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.182 CCR2 Zornitza Stark Gene: ccr2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.181 CCR2 Zornitza Stark gene: CCR2 was added
gene: CCR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: CCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCR2 were set to 40432300; 40325923; 38157855
Phenotypes for gene: CCR2 were set to Polycystic lung disease MIM#219600
Review for gene: CCR2 was set to GREEN
Added comment: Childhood interstitial lung disease precedes the development of polycystic changes. Established gene-disease association, with more than 6 unrelated families reported.
Sources: Literature
Intellectual disability syndromic and non-syndromic v1.523 Sarah Milton Added reviews for gene BAZ2B from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v0.180 AIRE Zornitza Stark Marked gene: AIRE as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.180 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Autism v0.234 Sarah Milton Added reviews for gene BAZ2B from panel Mendeliome
Pulmonary Fibrosis_Interstitial Lung Disease v0.180 AIRE Zornitza Stark Classified gene: AIRE as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.180 AIRE Zornitza Stark Gene: aire has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.179 AIRE Zornitza Stark gene: AIRE was added
gene: AIRE was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIRE were set to 34401309; 31167928; 28458664
Phenotypes for gene: AIRE were set to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM# 240300
Review for gene: AIRE was set to GREEN
Added comment: PMID 31167928 describes 21 APECED patients with pneumonitis (in some instances fatal), all carrying biallelic AIRE loss‑of‑function variants, and provides mouse model and patient bronchoalveolar lavage data linking AIRE deficiency to disease.
Sources: Literature
Mendeliome v1.3833 BAZ2B Sarah Milton edited their review of gene: BAZ2B: Added comment: Reviewed new literature in regards to gene disease association.

Classified as limited by ClinGen in 2022. Additional publication Sewani et al 2024 describes 10 additional individuals with variants in BAZ2B however a number were inherited, some were multigenic CNV's.

No functional evidence/animal models to support haploinsufficiency/loss of function as resulting in neurodev phenotype have been published thus far.

To remain as amber given a number of inherited variants, lack of functional evidence and LOF variants present in gnomAD.; Changed rating: AMBER; Changed publications: PMID: 37872713; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.522 Sarah Milton Copied Region ISCA-37431-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.522 ISCA-37431-Gain Sarah Milton Region: ISCA-37431-Gain was added
Region: ISCA-37431-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37431-Gain were set to 22241097
Phenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features
Intellectual disability syndromic and non-syndromic v1.521 Sarah Milton Copied Region ISCA-37430-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.521 ISCA-37430-Gain Sarah Milton Region: ISCA-37430-Gain was added
Region: ISCA-37430-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37430-Gain.
Mode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability
Microcephaly v1.381 Sarah Milton Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.381 ISCA-37429-Loss Sarah Milton Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Intellectual disability syndromic and non-syndromic v1.520 Sarah Milton Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.520 ISCA-37429-Loss Sarah Milton Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Growth failure v1.88 Sarah Milton Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes
Growth failure v1.88 ISCA-37429-Loss Sarah Milton Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Growth failure. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Genetic Epilepsy v1.317 Sarah Milton Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.317 ISCA-37429-Loss Sarah Milton Region: ISCA-37429-Loss was added
Region: ISCA-37429-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37429-Loss.
Mode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM# 194190; intellectual disability; growth retardation; seizures; dysmorphic features
Overgrowth v1.17 Sarah Milton Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes
Overgrowth v1.17 ISCA-37425-Loss Sarah Milton Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Overgrowth. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Phenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Macrocephaly_Megalencephaly v0.155 Sarah Milton Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes
Macrocephaly_Megalencephaly v0.155 ISCA-37425-Loss Sarah Milton Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Phenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Intellectual disability syndromic and non-syndromic v1.519 Sarah Milton Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.519 ISCA-37425-Loss Sarah Milton Region: ISCA-37425-Loss was added
Region: ISCA-37425-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Loss.
Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Loss were set to 23190751; 19596467
Phenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth
Microcephaly v1.380 Sarah Milton Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes
Microcephaly v1.380 ISCA-37425-Gain Sarah Milton Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Gain.
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Gain were set to 24819041
Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Intellectual disability syndromic and non-syndromic v1.518 Sarah Milton Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.518 ISCA-37425-Gain Sarah Milton Region: ISCA-37425-Gain was added
Region: ISCA-37425-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37425-Gain.
Mode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37425-Gain were set to 24819041
Phenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures
Macrocephaly_Megalencephaly v0.154 Sarah Milton Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes
Macrocephaly_Megalencephaly v0.154 ISCA-37424-Loss Sarah Milton Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37424-Loss.
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706
Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly
Intellectual disability syndromic and non-syndromic v1.517 Sarah Milton Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.517 ISCA-37424-Loss Sarah Milton Region: ISCA-37424-Loss was added
Region: ISCA-37424-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37424-Loss.
Mode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37424-Loss were set to 20345475; 25846706
Phenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly
Intellectual disability syndromic and non-syndromic v1.517 Sarah Milton Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.517 ISCA-37423-Loss Sarah Milton Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37423-Loss.
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay
Congenital Heart Defect v0.513 Sarah Milton Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.513 ISCA-37423-Loss Sarah Milton Region: ISCA-37423-Loss was added
Region: ISCA-37423-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37423-Loss.
Mode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981
Phenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay
Callosome v0.580 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Callosome v0.580 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Callosome v0.579 KIF21A Rylee Peters gene: KIF21A was added
gene: KIF21A was added to Callosome. Sources: Literature
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700
Review for gene: KIF21A was set to GREEN
Added comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964).
Sources: Literature
Hereditary Neuropathy v1.49 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Hereditary Neuropathy v1.49 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.48 KIF21A Rylee Peters gene: KIF21A was added
gene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature
Mode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964
Phenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700
Review for gene: KIF21A was set to GREEN
Added comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964).
Sources: Literature
Arthrogryposis v1.5 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Cerebellar and Pontocerebellar Hypoplasia v1.94 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Intellectual disability syndromic and non-syndromic v1.516 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM#135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700
Fetal anomalies v1.489 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Microcephaly v1.379 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Intellectual disability syndromic and non-syndromic v1.515 KIF21A Rylee Peters Classified gene: KIF21A as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v1.515 KIF21A Rylee Peters Gene: kif21a has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3833 KIF26B Lucy Spencer Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related
Intellectual disability syndromic and non-syndromic v1.514 KIF21A Rylee Peters reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.488 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related
Fetal anomalies v1.487 KIF21A Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919
Fetal anomalies v1.486 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Fetal anomalies v1.486 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.8 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.7 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related
Multiple pterygium syndrome_Fetal akinesia sequence v1.7 KIF21A Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919
Multiple pterygium syndrome_Fetal akinesia sequence v1.7 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Multiple pterygium syndrome_Fetal akinesia sequence v1.7 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Multiple pterygium syndrome_Fetal akinesia sequence v1.6 Rylee Peters Added reviews for gene KIF21A from panel Arthrogryposis
Arthrogryposis v1.4 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related
Fetal anomalies v1.485 Rylee Peters Added reviews for gene KIF21A from panel Arthrogryposis
Arthrogryposis v1.3 KIF21A Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919
Intellectual disability syndromic and non-syndromic v1.514 KIF21B Lucy Spencer Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related
Arthrogryposis v1.2 KIF21A Rylee Peters Classified gene: KIF21A as Green List (high evidence)
Arthrogryposis v1.2 KIF21A Rylee Peters Gene: kif21a has been classified as Green List (High Evidence).
Microcephaly v1.378 KIF21B Lucy Spencer Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related
Fetal anomalies v1.484 KIF21B Lucy Spencer Phenotypes for gene: KIF21B were changed from Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related
Arthrogryposis v1.1 KIF21A Rylee Peters reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 34740919, 32686171; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3832 KIF21B Lucy Spencer Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related
Mendeliome v1.3831 KIF21A Rylee Peters Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related
Mendeliome v1.3830 KIF21A Rylee Peters Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320; 28930843; 27513105; 26190014; 24656932
Mendeliome v1.3829 KIF21A Rylee Peters Mode of inheritance for gene: KIF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3828 KIF21A Rylee Peters reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964, 34740919, 32686171; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700, Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Anophthalmia_Microphthalmia_Coloboma v1.54 KIF17 Lucy Spencer Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related
Mendeliome v1.3828 KIF17 Lucy Spencer Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related
Mendeliome v1.3827 KIAA1217 Lucy Spencer Phenotypes for gene: KIAA1217 were changed from Vertebral anomalies, syndromic and non-syndromic to Skeletal system disorder MONDO:0005172, KIAA1217-related
Deafness_IsolatedAndComplex v1.310 DDX11 Krithika Murali Classified gene: DDX11 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.310 DDX11 Krithika Murali Gene: ddx11 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.309 DDX11 Krithika Murali gene: DDX11 was added
gene: DDX11 was added to Deafness_IsolatedAndComplex. Sources: Literature
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX11 were set to PMID: 31169992
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome - MIM#613398
Review for gene: DDX11 was set to GREEN
Added comment: Sensorineural hearing loss is part of the phenotypic spectrum
Sources: Literature
Mendeliome v1.3826 KHDRBS1 Lucy Spencer Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.392 KHDRBS1 Lucy Spencer Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related
Cerebral Palsy v1.406 KDM7A Lucy Spencer Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related
Mendeliome v1.3825 KDM7A Lucy Spencer Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related
Intellectual disability syndromic and non-syndromic v1.513 KCTD3 Lucy Spencer Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related
Genetic Epilepsy v1.316 KCTD3 Lucy Spencer Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related
Mendeliome v1.3824 KCTD3 Lucy Spencer Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related
Mendeliome v1.3823 KCNT1 Lucy Spencer Phenotypes for gene: KCNT1 were changed from Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959 to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Developmental and epileptic encephalopathy 14 MIM# 614959
Mendeliome v1.3822 KCNQ2 Lucy Spencer Phenotypes for gene: KCNQ2 were changed from Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 to Developmental and epileptic encephalopathy 7 MIM#613720; Seizures, benign neonatal, 1, MIM#121200; Myokymia, MIM#121200
Mendeliome v1.3821 KCNMA1 Lucy Spencer reviewed gene: KCNMA1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Mode of inheritance: None
Mendeliome v1.3821 KCNMA1 Lucy Spencer Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729 to Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729
Mendeliome v1.3820 KCNJ8 Lucy Spencer Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Brugada syndrome 1 MONDO:0011001, KCNJ8-related; Hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406, KCNJ8-related
Mendeliome v1.3819 KCNH1 Lucy Spencer Phenotypes for gene: KCNH1 were changed from Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS to KCNH1 associated disorder MONDO:0100485; Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500
Mendeliome v1.3818 KCNH1 Lucy Spencer reviewed gene: KCNH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: KCNH1 associated disorder MONDO:0100485; Mode of inheritance: None
Mendeliome v1.3818 KCNE5 Lucy Spencer Phenotypes for gene: KCNE5 were changed from Atrial fibrillation; Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263, KCNE5-related; Atrial fibrillation MONDO:0004981, KCNE5-related
Mendeliome v1.3817 KCNE3 Lucy Spencer Phenotypes for gene: KCNE3 were changed from Brugada syndrome to Brugada syndrome 6 MIM#613119
Genetic Epilepsy v1.315 KCND2 Lucy Spencer Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related
Mendeliome v1.3816 KCND2 Lucy Spencer Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related
Mendeliome v1.3815 KATNAL2 Lucy Spencer Phenotypes for gene: KATNAL2 were changed from Oligo-astheno-teratozoospermia; Autism to Male infertility MONDO:0005372, KATNAL2-related; Complex neurodevelopmental disorder MONDO:0100038, KATNAL2-related
Mendeliome v1.3814 KATNAL2 Lucy Spencer commented on gene: KATNAL2
Mendeliome v1.3814 KANK4 Lucy Spencer Phenotypes for gene: KANK4 were changed from Nephrotic syndrome to Nephrotic syndrome MONDO:0005377, KANK4-related
Mendeliome v1.3813 KALRN Lucy Spencer Phenotypes for gene: KALRN were changed from Susceptibility to coronary heart disease; Intellectual disability to Coronary artery disorder MONDO:0005010, KALRN-related; Intellectual disability (MONDO:0001071), KALRN-related
Brain Calcification v2.1 JAM2 Lucy Spencer Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824
Mendeliome v1.3812 JAM2 Lucy Spencer Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824
Mendeliome v1.3811 JAG1 Lucy Spencer Phenotypes for gene: JAG1 were changed from Alagille syndrome 1, MIM# 118450; Charcot-Marie-Tooth disease, axonal, type 2HH, MIM# 619574 to Alagille syndrome due to a JAG1 point mutation MONDO:0016862; Charcot-Marie-Tooth disease, axonal, type 2HH MIM#619574
Mendeliome v1.3810 JAG1 Lucy Spencer reviewed gene: JAG1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome due to a JAG1 point mutation MONDO:0016862, Charcot-Marie-Tooth disease, axonal, type 2HH MIM#619574; Mode of inheritance: None
Mendeliome v1.3810 ITSN2 Lucy Spencer Phenotypes for gene: ITSN2 were changed from Nephrotic syndrome to Nephrotic syndrome MONDO:0005377, ITSN2-related
Mendeliome v1.3809 ITGB4 Lucy Spencer Publications for gene: ITGB4 were set to 11328943; 9670011; 33225458; 30079450; 29380424; 29198538; 28557647
Mendeliome v1.3808 ITGB4 Lucy Spencer changed review comment from: Updating OMIMs, 2 listed below are now attached to different genes. Both current OMIMs are recessive only; to: Updating OMIMs, 2 listed below are now attached to different genes. Both current OMIMs are recessive only

Dominant reports appear to be rare, PMID: 35822394, 26817667, 36813478
Mendeliome v1.3808 ITGB4 Lucy Spencer Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 to Epidermolysis bullosa, junctional 5A, intermediate MIM#619816; Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730
Mendeliome v1.3807 ITGB4 Lucy Spencer reviewed gene: ITGB4: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa, junctional 5A, intermediate MIM#619816, Epidermolysis bullosa, junctional 5B, with pyloric atresia MIM#226730; Mode of inheritance: None
Mendeliome v1.3807 ITFG2 Lucy Spencer Phenotypes for gene: ITFG2 were changed from Neurodevelopmental abnormality; Intellectual disability; Developmental regression; Ataxia to Neurodevelopmental disorder (MONDO:0700092), ITFG2-related
Mendeliome v1.3806 ISPD Lucy Spencer Phenotypes for gene: ISPD were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 to Myopathy caused by variation in CRPPA MONDO:0100530; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052
Mendeliome v1.3805 ISPD Lucy Spencer reviewed gene: ISPD: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy caused by variation in CRPPA MONDO:0100530; Mode of inheritance: None
Mendeliome v1.3805 ISLR2 Lucy Spencer Phenotypes for gene: ISLR2 were changed from hydrocephalus; arthrogryposis; abdominal distension to Multiple congenital anomalies MONDO:0019042, ISLR2-related
Stroke v1.41 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Stroke v1.41 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.37 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Rhabdomyolysis and Metabolic Myopathy v1.37 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.229 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Retinitis pigmentosa v0.229 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.308 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Deafness_IsolatedAndComplex v1.308 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Genetic Epilepsy v1.314 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Genetic Epilepsy v1.314 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Stroke v1.41 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Stroke v1.41 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Rhabdomyolysis and Metabolic Myopathy v1.37 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.37 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Retinitis pigmentosa v0.229 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Retinitis pigmentosa v0.229 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Hereditary Neuropathy v1.47 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Hereditary Neuropathy v1.47 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Stroke v1.40 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Stroke v1.40 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Genetic Epilepsy v1.314 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Genetic Epilepsy v1.314 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Retinitis pigmentosa v0.228 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Retinitis pigmentosa v0.228 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Ataxia v1.164 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Ataxia v1.164 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.307 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Deafness_IsolatedAndComplex v1.307 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Genetic Epilepsy v1.313 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Genetic Epilepsy v1.313 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.308 Zornitza Stark Copied gene MT-TF from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.308 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TF.
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Publications for gene: MT-TF were set to 14659412; 9771776; 16806928; 21060018; 31463198; 32419253; 34607911; 21424749; 15184630; 20142618; 28267784; 31722346; 35472031; 9636664; 21882289; 16769874; 21914246; 31009750; 18977334
Phenotypes for gene: MT-TF were set to Mitochondrial disease (MONDO:0044970), MT-TF-related
Optic Atrophy v1.67 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Optic Atrophy v1.67 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Cataract v0.398 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Cataract v0.398 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.36 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Rhabdomyolysis and Metabolic Myopathy v1.36 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.228 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Retinitis pigmentosa v0.228 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Ataxia v1.164 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Ataxia v1.164 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.307 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Deafness_IsolatedAndComplex v1.307 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Genetic Epilepsy v1.313 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Genetic Epilepsy v1.313 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Optic Atrophy v1.67 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Optic Atrophy v1.67 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Cataract v0.398 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Cataract v0.398 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Stroke v1.40 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Stroke v1.40 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Retinitis pigmentosa v0.228 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Retinitis pigmentosa v0.228 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Optic Atrophy v1.67 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Optic Atrophy v1.67 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Genetic Epilepsy v1.313 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Genetic Epilepsy v1.313 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Deafness_IsolatedAndComplex v1.307 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.307 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Cataract v0.398 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Cataract v0.398 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Cataract. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Ataxia v1.164 Zornitza Stark Copied gene MT-TH from panel Mitochondrial disease
Ataxia v1.164 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TH.
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Publications for gene: MT-TH were set to 12682337; 14967777; 15111688; 21704194; 21931169; 23696415; 35092007; 24920829; 21704194
Phenotypes for gene: MT-TH were set to Mitochondrial disease (MONDO:0044970), MT-TH-related
Rhabdomyolysis and Metabolic Myopathy v1.36 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.36 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Retinitis pigmentosa v0.227 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Retinitis pigmentosa v0.227 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Optic Atrophy v1.66 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Optic Atrophy v1.66 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Hereditary Neuropathy v1.46 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Hereditary Neuropathy v1.46 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Hereditary Neuropathy - complex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Genetic Epilepsy v1.312 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Genetic Epilepsy v1.312 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Deafness_IsolatedAndComplex v1.306 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.306 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Stroke v1.39 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Stroke v1.39 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Cataract v0.397 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Cataract v0.397 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Cataract. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Rhabdomyolysis and Metabolic Myopathy v1.35 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Rhabdomyolysis and Metabolic Myopathy v1.35 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Retinitis pigmentosa v0.226 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Retinitis pigmentosa v0.226 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.512 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Intellectual disability syndromic and non-syndromic v1.512 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.305 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Deafness_IsolatedAndComplex v1.305 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Genetic Epilepsy v1.311 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Genetic Epilepsy v1.311 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Ataxia v1.163 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Ataxia v1.163 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Cardiomyopathy_Paediatric v0.209 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Cardiomyopathy_Paediatric v0.209 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Cardiomyopathy_Paediatric. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Ataxia v1.164 Zornitza Stark Copied gene MT-TG from panel Mitochondrial disease
Ataxia v1.164 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TG.
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Publications for gene: MT-TG were set to 8079988; 9199564; 11971101; 16120360; 32337339; 35432167; 10090480
Phenotypes for gene: MT-TG were set to Mitochondrial disease (MONDO:0044970), MT-TG-related
Rhabdomyolysis and Metabolic Myopathy v1.35 MT-TD Zornitza Stark Marked gene: MT-TD as ready
Rhabdomyolysis and Metabolic Myopathy v1.35 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Stroke v1.39 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Stroke v1.39 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Rhabdomyolysis and Metabolic Myopathy v1.35 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.35 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Retinitis pigmentosa v0.226 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Retinitis pigmentosa v0.226 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Retinitis pigmentosa. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Intellectual disability syndromic and non-syndromic v1.512 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.512 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Genetic Epilepsy v1.311 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Genetic Epilepsy v1.311 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Deafness_IsolatedAndComplex v1.305 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.305 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Ataxia v1.163 Zornitza Stark Copied gene MT-TE from panel Mitochondrial disease
Ataxia v1.163 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Ataxia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TE.
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 8155739; 21194154; 17715279; 23334599; 7726155; 7726154; 9353617; 15048886; 15670724; 23847141; 23334599; 17266923; 17056256
Phenotypes for gene: MT-TE were set to Mitochondrial disease (MONDO:0044970), MT-TE-related
Rhabdomyolysis and Metabolic Myopathy v1.34 Zornitza Stark Copied gene MT-TD from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.34 MT-TD Zornitza Stark gene: MT-TD was added
gene: MT-TD was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TD.
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Publications for gene: MT-TD were set to 9811342; 10488907; 16059939; 18676632; 23696415; 25447692; 27536005; 30030363; 3054486; 19535463
Phenotypes for gene: MT-TD were set to Mitochondrial disease (MONDO:0044970), MT-TD-related
Mitochondrial disease v1.0 MT-TD Zornitza Stark commented on gene: MT-TD: Predominantly reported with mitochondrial myopathy.
Fetal anomalies v1.483 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Fetal anomalies v1.483 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Fetal anomalies v1.482 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Intellectual disability syndromic and non-syndromic v1.511 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Intellectual disability syndromic and non-syndromic v1.511 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.510 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Genetic Epilepsy v1.310 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Genetic Epilepsy v1.310 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Genetic Epilepsy v1.309 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Mendeliome v1.3804 EMX2 Zornitza Stark edited their review of gene: EMX2: Changed rating: RED
Mendeliome v1.3804 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Mendeliome v1.3804 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Polymicrogyria and Schizencephaly v0.204 EMX2 Zornitza Stark Classified gene: EMX2 as Red List (low evidence)
Polymicrogyria and Schizencephaly v0.204 EMX2 Zornitza Stark Gene: emx2 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v1.510 CRNKL1 Zornitza Stark reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly v1.377 CRNKL1 Zornitza Stark Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 CRNKL1-related to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436
Microcephaly v1.376 CRNKL1 Zornitza Stark reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.3803 CRNKL1 Zornitza Stark Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436
Mendeliome v1.3802 CRNKL1 Zornitza Stark reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cerebellar and Pontocerebellar Hypoplasia v1.93 CRNKL1 Zornitza Stark Phenotypes for gene: CRNKL1 were changed from complex neurodevelopmental disorder MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436
Cerebellar and Pontocerebellar Hypoplasia v1.92 CRNKL1 Zornitza Stark reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Polymicrogyria and Schizencephaly v0.203 CRNKL1 Zornitza Stark Phenotypes for gene: CRNKL1 were changed from Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038 to Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436
Polymicrogyria and Schizencephaly v0.202 CRNKL1 Zornitza Stark reviewed gene: CRNKL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v1.0 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mitochondrial disease v1.0 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Additional findings_Paediatric v0.279 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Marked gene: SNTA1 as ready
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.147 SNTA1 Zornitza Stark Phenotypes for gene: SNTA1 were changed from Long QT syndrome to Long QT syndrome 12 MIM#612955
Genomic newborn screening: BabyScreen+ v1.146 SNTA1 Zornitza Stark Classified gene: SNTA1 as Red List (low evidence)
Genomic newborn screening: BabyScreen+ v1.146 SNTA1 Zornitza Stark Gene: snta1 has been classified as Red List (Low Evidence).
Genomic newborn screening: BabyScreen+ v1.145 SNTA1 Zornitza Stark Tag disputed tag was added to gene: SNTA1.
Genomic newborn screening: BabyScreen+ v1.145 SNTA1 Zornitza Stark reviewed gene: SNTA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 12 MIM#612955; Mode of inheritance: None
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Marked gene: SDHAF2 as ready
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.145 SDHAF2 Zornitza Stark Phenotypes for gene: SDHAF2 were changed from Hereditary Paraganglioma-Pheochromocytoma Syndromes to Paragangliomas 2, MIM# 601650
Genomic newborn screening: BabyScreen+ v1.144 SDHAF2 Zornitza Stark reviewed gene: SDHAF2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Paragangliomas 2, MIM# 601650; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Gene: rbm20 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.144 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from Cardiomyopathy, dilated, 1DD to Cardiomyopathy, dilated, 1DD, MIM# 613172 AD
Genomic newborn screening: BabyScreen+ v1.143 RBM20 Zornitza Stark changed review comment from: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet.; to: DEFINITIVE association with DCM. Not assessed for actionability by ClinGen yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.143 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1DD, MIM# 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Marked gene: MYLK as ready
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Gene: mylk has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.143 MYLK Zornitza Stark Phenotypes for gene: MYLK were changed from Aortic aneurysm, familial thoracic 7 to Aortic aneurysm, familial thoracic 7, MIM#613780
Genomic newborn screening: BabyScreen+ v1.142 MYLK Zornitza Stark changed review comment from: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet.; to: STRONG by ClinGen in terms of gene-disease relationship but not assessed for actionability yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.142 MYLK Zornitza Stark reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM#613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Marked gene: MYL3 as ready
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Gene: myl3 has been classified as Amber List (Moderate Evidence).
Genomic newborn screening: BabyScreen+ v1.142 MYL3 Zornitza Stark Phenotypes for gene: MYL3 were changed from Cardiomyopathy, familial hypertrophic, 8 to Cardiomyopathy, hypertrophic, 8, MIM# 608751
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark changed review comment from: Not assessed by ClinGen Paed Actionability Group yet.; to: DEFINITIVE association with HCM. Not assessed by ClinGen Paed Actionability Group yet. Not suitable for gNBS.
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark edited their review of gene: MYL3: Changed phenotypes: Cardiomyopathy, hypertrophic, 8, MIM# 608751; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark edited their review of gene: MYL3: Changed rating: AMBER
Genomic newborn screening: BabyScreen+ v1.141 MYL3 Zornitza Stark commented on gene: MYL3
Intellectual disability syndromic and non-syndromic v1.510 ISCA-37421-Loss Zornitza Stark Marked Region: ISCA-37421-Loss as ready
Intellectual disability syndromic and non-syndromic v1.510 ISCA-37421-Loss Zornitza Stark Region: isca-37421-loss has been classified as Green List (High Evidence).
Clefting disorders v0.295 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Clefting disorders v0.295 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Clefting disorders v0.295 ISCA-37423-Gain Zornitza Stark Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Congenital Heart Defect v0.512 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Congenital Heart Defect v0.512 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.510 ISCA-37423-Gain Zornitza Stark Marked Region: ISCA-37423-Gain as ready
Intellectual disability syndromic and non-syndromic v1.510 ISCA-37423-Gain Zornitza Stark Region: isca-37423-gain has been classified as Green List (High Evidence).
Mitochondrial disease v1.0 Zornitza Stark promoted panel to version 1.0
Mitochondrial disease v0.1375 SDHC Zornitza Stark Marked gene: SDHC as ready
Mitochondrial disease v0.1375 SDHC Zornitza Stark Gene: sdhc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 SDHC Zornitza Stark reviewed gene: SDHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1375 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Mitochondrial disease v0.1375 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Marked gene: ATPAF2 as ready
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Phenotypes for gene: ATPAF2 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273
Mitochondrial disease v0.1374 ATPAF2 Zornitza Stark Publications for gene: ATPAF2 were set to
Mitochondrial disease v0.1373 ATPAF2 Zornitza Stark Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Mitochondrial disease v0.1371 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Mitochondrial disease v0.1370 WARS2 Zornitza Stark Mode of inheritance for gene: WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824
Mitochondrial disease v0.1368 UQCC2 Zornitza Stark Publications for gene: UQCC2 were set to
Mitochondrial disease v0.1367 UQCC2 Zornitza Stark Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Mitochondrial disease v0.1365 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Mitochondrial disease v0.1364 TTC19 Zornitza Stark Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1363 TSFM Zornitza Stark Marked gene: TSFM as ready
Mitochondrial disease v0.1363 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Mitochondrial disease v0.1363 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505
Mitochondrial disease v0.1362 TSFM Zornitza Stark Publications for gene: TSFM were set to
Mitochondrial disease v0.1361 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Mitochondrial disease v0.1359 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523; 26494905
Mitochondrial disease v0.1359 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Mitochondrial disease v0.1358 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1357 TRMU Zornitza Stark Marked gene: TRMU as ready
Mitochondrial disease v0.1357 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Mitochondrial disease v0.1357 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Mitochondrial disease v0.1356 TRMU Zornitza Stark Publications for gene: TRMU were set to 19732863
Mitochondrial disease v0.1355 TRMU Zornitza Stark Publications for gene: TRMU were set to
Mitochondrial disease v0.1354 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1353 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Marked gene: TRMT10C as ready
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Green List (High Evidence).
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from Combined oxidative phosphorylation deficiency 30, MIM# 616974 to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mitochondrial disease v0.1351 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mitochondrial disease v0.1350 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to 27132592; 33886802
Mitochondrial disease v0.1349 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to
Mitochondrial disease v0.1348 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Mitochondrial disease v0.1348 TRIT1 Zornitza Stark Gene: trit1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Mitochondrial disease v0.1347 TPK1 Zornitza Stark Publications for gene: TPK1 were set to
Mitochondrial disease v0.1346 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Mitochondrial disease v0.1344 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Mitochondrial disease v0.1343 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Gene: timm8a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome, MIM# 304700
Mitochondrial disease v0.1341 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Mitochondrial disease v0.1340 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1339 TIMM8A Zornitza Stark changed review comment from: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.; to: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.

Component of the inner mitochondrial membrane.
Mitochondrial disease v0.1339 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Mitochondrial disease v0.1339 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1339 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
Mitochondrial disease v0.1338 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Mitochondrial disease v0.1337 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Clefting disorders v0.294 ISCA-37423-Gain Sarah Milton reviewed Region: ISCA-37423-Gain: Rating: ; Mode of pathogenicity: None; Publications: PMID: 23345203; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1335 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Mitochondrial disease v0.1334 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mitochondrial disease v0.1332 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Mitochondrial disease v0.1331 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Mitochondrial disease v0.1329 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Mitochondrial disease v0.1328 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Mitochondrial disease v0.1326 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to 26870663; 31527857; 31808147; 23561848; 23393310
Mitochondrial disease v0.1325 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Intellectual disability syndromic and non-syndromic v1.510 Sarah Milton Copied Region ISCA-37423-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.510 ISCA-37423-Gain Sarah Milton Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Congenital Heart Defect v0.512 Sarah Milton Copied Region ISCA-37423-Gain from panel Common deletion and duplication syndromes
Mitochondrial disease v0.1324 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Congenital Heart Defect v0.512 ISCA-37423-Gain Sarah Milton Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Mitochondrial disease v0.1323 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Clefting disorders v0.294 Sarah Milton Copied Region ISCA-37423-Gain from panel Common deletion and duplication syndromes
Clefting disorders v0.294 ISCA-37423-Gain Sarah Milton Region: ISCA-37423-Gain was added
Region: ISCA-37423-Gain was added to Clefting disorders. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37423-Gain.
Mode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37423-Gain were set to 26097203; 25520754
Phenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Mitochondrial disease v0.1322 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Mitochondrial disease v0.1321 SLC19A3 Zornitza Stark Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270
Mitochondrial disease v0.1319 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Mitochondrial disease v0.1318 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Marked gene: SFXN4 as ready
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Mitochondrial disease v0.1316 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
Mitochondrial disease v0.1315 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1314 SFXN4 Zornitza Stark reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119684, 31059822; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Mitochondrial disease v0.1313 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Mitochondrial disease v0.1312 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1311 SDHA Zornitza Stark Marked gene: SDHA as ready
Mitochondrial disease v0.1311 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.509 Sarah Milton Copied Region ISCA-37421-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.509 ISCA-37421-Loss Sarah Milton Region: ISCA-37421-Loss was added
Region: ISCA-37421-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37421-Loss.
Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Loss were set to 32655619
Phenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM# 612474; intellectual disability; microcephaly; congenital anomalies
Mitochondrial disease v0.1311 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Mitochondrial disease v0.1310 SDHA Zornitza Stark Publications for gene: SDHA were set to
Mitochondrial disease v0.1309 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Mitochondrial disease v0.1307 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Mitochondrial disease v0.1306 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1305 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 11673586, 18924171, 20159436; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Mitochondrial disease v0.1304 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
Mitochondrial disease v0.1303 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Mitochondrial disease v0.1301 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Mitochondrial disease v0.1300 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1299 RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1299 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Mitochondrial disease v0.1299 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Mitochondrial disease v0.1299 Zornitza Stark Copied gene VPS13D from panel Mendeliome
Mitochondrial disease v0.1299 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Mendeliome v1.3802 TKFC Zornitza Stark edited their review of gene: TKFC: Changed publications: 32004446, 38697782
Intellectual disability syndromic and non-syndromic v1.508 THG1L Zornitza Stark Tag founder tag was added to gene: THG1L.
Intellectual disability syndromic and non-syndromic v1.508 THG1L Zornitza Stark reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800; Mode of inheritance: None
Genetic Epilepsy v1.309 THG1L Zornitza Stark Tag founder tag was added to gene: THG1L.
Genetic Epilepsy v1.309 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: AMBER
Genetic Epilepsy v1.309 THG1L Zornitza Stark commented on gene: THG1L: LIMITED by ClinGen. Founder.
Mendeliome v1.3802 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Mendeliome v1.3802 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3801 THG1L Zornitza Stark Tag founder tag was added to gene: THG1L.
Mendeliome v1.3801 THG1L Zornitza Stark edited their review of gene: THG1L: Changed rating: AMBER
Mendeliome v1.3801 THG1L Zornitza Stark commented on gene: THG1L: LIMITED by ClinGen. Founder variant.
Ataxia v1.162 THG1L Zornitza Stark Phenotypes for gene: THG1L were changed from Cerebellar ataxia with developmental delay to Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Ataxia v1.161 THG1L Zornitza Stark Tag founder tag was added to gene: THG1L.
Ataxia v1.161 THG1L Zornitza Stark edited their review of gene: THG1L: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800
Ataxia v1.161 THG1L Zornitza Stark Classified gene: THG1L as Amber List (moderate evidence)
Ataxia v1.161 THG1L Zornitza Stark Gene: thg1l has been classified as Amber List (Moderate Evidence).
Ataxia v1.160 THG1L Zornitza Stark edited their review of gene: THG1L: Added comment: LIMITED by ClinGen. Founder variant.; Changed rating: AMBER
Regression v0.601 SUPV3L1 Zornitza Stark Marked gene: SUPV3L1 as ready
Regression v0.601 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.65 SUPV3L1 Zornitza Stark Marked gene: SUPV3L1 as ready
Optic Atrophy v1.65 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3801 SUPV3L1 Zornitza Stark Marked gene: SUPV3L1 as ready
Mendeliome v1.3801 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Regression v0.601 Zornitza Stark Copied gene SUPV3L1 from panel Mitochondrial disease
Regression v0.601 SUPV3L1 Zornitza Stark gene: SUPV3L1 was added
gene: SUPV3L1 was added to Regression. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPV3L1 were set to 39596606; 35023579
Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970
Optic Atrophy v1.65 Zornitza Stark Copied gene SUPV3L1 from panel Mitochondrial disease
Optic Atrophy v1.65 SUPV3L1 Zornitza Stark gene: SUPV3L1 was added
gene: SUPV3L1 was added to Optic Atrophy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPV3L1 were set to 39596606; 35023579
Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970
Mendeliome v1.3801 Zornitza Stark Copied gene SUPV3L1 from panel Mitochondrial disease
Mendeliome v1.3801 SUPV3L1 Zornitza Stark gene: SUPV3L1 was added
gene: SUPV3L1 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPV3L1 were set to 39596606; 35023579
Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Marked gene: SUPV3L1 as ready
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Classified gene: SUPV3L1 as Amber List (moderate evidence)
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1297 SUPV3L1 Zornitza Stark gene: SUPV3L1 was added
gene: SUPV3L1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPV3L1 were set to 39596606; 35023579
Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970
Review for gene: SUPV3L1 was set to AMBER
Added comment: PMID 35023579 reports two siblings from a consanguineous Omani family with a homozygous truncating SUPV3L1 variant (c.2215C>T, p.Gln739*). PMID 39596606 reports one individual with compound heterozygous splice (c.272-2A>G) and missense (c.1924A>C, p.Ser642Arg) SUPV3L1 variants. All three patients present with early‑onset neurodegenerative mitochondrial disease characterized by progressive spasticity/ataxia, optic atrophy, skin hypopigmentation, lactate elevation and neurodegeneration. Limited functional data.
Sources: Literature
Mendeliome v1.3800 SUCLG2 Zornitza Stark Marked gene: SUCLG2 as ready
Mendeliome v1.3800 SUCLG2 Zornitza Stark Gene: suclg2 has been classified as Red List (Low Evidence).
Mendeliome v1.3800 Zornitza Stark Copied gene SUCLG2 from panel Mitochondrial disease
Mendeliome v1.3800 SUCLG2 Zornitza Stark gene: SUCLG2 was added
gene: SUCLG2 was added to Mendeliome. Sources: Expert Review Red,Literature
Mode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUCLG2 were set to 33484326
Phenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark Marked gene: SUCLG2 as ready
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark Gene: suclg2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark gene: SUCLG2 was added
gene: SUCLG2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUCLG2 were set to 33484326
Phenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: SUCLG2 was set to RED
Added comment: PMID 33484326 reports 3 individuals from 3 unrelated families with a heterozygous nonsense c.235G>T (p.Glu79*) variant in SUCLG2 presenting with MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes). No functional or segregation data are provided. Note 3 hets in gnomAD v4, hence RED rating.
Sources: Literature
Rhabdomyolysis and Metabolic Myopathy v1.33 SMDT1 Zornitza Stark Marked gene: SMDT1 as ready
Rhabdomyolysis and Metabolic Myopathy v1.33 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3799 SMDT1 Zornitza Stark Marked gene: SMDT1 as ready
Mendeliome v1.3799 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.33 Zornitza Stark Copied gene SMDT1 from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.33 SMDT1 Zornitza Stark gene: SMDT1 was added
gene: SMDT1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMDT1 were set to 37454773
Phenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related
Mendeliome v1.3799 Zornitza Stark Copied gene SMDT1 from panel Mitochondrial disease
Mendeliome v1.3799 SMDT1 Zornitza Stark gene: SMDT1 was added
gene: SMDT1 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMDT1 were set to 37454773
Phenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Marked gene: SMDT1 as ready
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Classified gene: SMDT1 as Amber List (moderate evidence)
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1294 SMDT1 Zornitza Stark gene: SMDT1 was added
gene: SMDT1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMDT1 were set to 37454773
Phenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related
Review for gene: SMDT1 was set to AMBER
Added comment: PMID 37454773 reports 2 individuals from 2 unrelated families with homozygous SMDT1 variants (c.142_145del frameshift; c.179C>T missense) presenting with muscle disease characterized by elevated CK, episodic rhabdomyolysis, progressive limb‑girdle weakness and mild developmental delay. Patient fibroblasts lack EMRE, show disrupted MCU complex and severely impaired mitochondrial Ca2+ uptake; wild‑type SMDT1 complementation restores EMRE expression, MCU assembly and Ca2+ uptake.
Sources: Literature
Mitochondrial disease v0.1293 PREPL Zornitza Stark Marked gene: PREPL as ready
Mitochondrial disease v0.1293 PREPL Zornitza Stark Gene: prepl has been classified as Green List (High Evidence).
Mitochondrial disease v0.1293 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome
Mitochondrial disease v0.1292 PREPL Zornitza Stark Publications for gene: PREPL were set to 28726805; 27604308; 24610330
Mitochondrial disease v0.1291 PREPL Zornitza Stark reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 34888501; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1291 Zornitza Stark Copied gene PREPL from panel Mendeliome
Mitochondrial disease v0.1291 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Mitochondrial disease. Sources: Expert Review Green,Literature,Victorian Clinical Genetics Services
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 28726805; 27604308; 24610330
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Mitochondrial disease v0.1290 PISD Zornitza Stark Marked gene: PISD as ready
Mitochondrial disease v0.1290 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mitochondrial disease v0.1290 PISD Zornitza Stark Publications for gene: PISD were set to 31263216; 30858161
Mitochondrial disease v0.1289 PISD Zornitza Stark commented on gene: PISD: Mitochondrial enzyme.
Mitochondrial disease v0.1289 Zornitza Stark Copied gene PISD from panel Mendeliome
Mitochondrial disease v0.1289 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 31263216; 30858161
Phenotypes for gene: PISD were set to Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities
Mitochondrial disease v0.1288 PCK2 Zornitza Stark Marked gene: PCK2 as ready
Mitochondrial disease v0.1288 PCK2 Zornitza Stark Gene: pck2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1288 Zornitza Stark Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated
Mitochondrial disease v0.1288 PCK2 Zornitza Stark gene: PCK2 was added
gene: PCK2 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related
Mendeliome v1.3798 NDUFA3 Zornitza Stark Marked gene: NDUFA3 as ready
Mendeliome v1.3798 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3798 Zornitza Stark Copied gene NDUFA3 from panel Mitochondrial disease
Mendeliome v1.3798 NDUFA3 Zornitza Stark gene: NDUFA3 was added
gene: NDUFA3 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA3 were set to 41038977; 39661167
Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Marked gene: NDUFA3 as ready
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1286 NDUFA3 Zornitza Stark gene: NDUFA3 was added
gene: NDUFA3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA3 were set to 41038977; 39661167
Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related
Review for gene: NDUFA3 was set to AMBER
Added comment: PMID 39661167 reports three affected siblings from one unrelated family and PMID 41038977 reports one affected individual from a second unrelated family, both with early‑onset Leigh syndrome due to biallelic loss‑of‑function NDUFA3 variants. Functional studies demonstrate loss of complex I activity and rescue experiments supporting pathogenicity.
Sources: Literature
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1284 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 38250156; 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
Review for gene: MTX2 was set to GREEN
Added comment: PMID 32917887 reports 7 individuals from 5 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with mandibuloacral dysplasia progeroid syndrome (growth retardation, mandibular hypoplasia, acro‑osteolysis, lipodystrophy, severe hypertension, renal disease). PMID 38250156 reports 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with nephrotic proteinuria, multisystem mitochondrial dysfunction (elevated lactate, growth retardation, cardiomyopathy). Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment.
Sources: Literature
Mitochondrial disease v0.1283 C19orf70 Zornitza Stark Tag new gene name tag was added to gene: C19orf70.
Mendeliome v1.3797 C19orf70 Zornitza Stark Tag new gene name tag was added to gene: C19orf70.
Mitochondrial disease v0.1283 IDH3G Zornitza Stark Marked gene: IDH3G as ready
Mitochondrial disease v0.1283 IDH3G Zornitza Stark Gene: idh3g has been classified as Green List (High Evidence).
Mitochondrial disease v0.1283 IDH3G Zornitza Stark commented on gene: IDH3G: Mitochondrial enzyme.
Mitochondrial disease v0.1283 Zornitza Stark Copied gene IDH3G from panel Retinitis pigmentosa
Mitochondrial disease v0.1283 IDH3G Zornitza Stark gene: IDH3G was added
gene: IDH3G was added to Mitochondrial disease. Sources: Expert Review Green,Literature
Mode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDH3G were set to 40119724
Phenotypes for gene: IDH3G were set to Retinitis pigmentosa 99, MIM# 301148
Mitochondrial disease v0.1282 HK1 Zornitza Stark Marked gene: HK1 as ready
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1282 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1282 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1281 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HK1 were set to 40469904; 38617198
Phenotypes for gene: HK1 were set to Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547
Review for gene: HK1 was set to GREEN
Added comment: PMID 38617198 reports 15 individuals from 14 unrelated families with heterozygous de novo missense HK1 variants causing a neurodevelopmental disorder with early‑onset developmental and epileptic encephalopathy, static encephalopathy, movement disorder, retinitis pigmentosa, low CSF glucose and elevated lactate, consistent with mitochondrial dysfunction. PMID 40469904 reports 22 individuals from 19 unrelated families with heterozygous missense HK1 variants causing neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA), featuring intellectual disability, hypotonia, epileptic encephalopathy, visual impairment, Leigh‑like MRI changes and elevated lactate.
Sources: Literature
Mitochondrial disease v0.1280 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Mitochondrial disease v0.1280 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1280 GPT2 Zornitza Stark commented on gene: GPT2: Mitochondrial enzyme.
Mitochondrial disease v0.1280 Zornitza Stark Copied gene GPT2 from panel Mendeliome
Mitochondrial disease v0.1280 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 27601654; 25758935
Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Intellectual disability syndromic and non-syndromic v1.508 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Intellectual disability syndromic and non-syndromic v1.508 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3797 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Mendeliome v1.3797 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3797 Zornitza Stark Copied gene DNAJA3 from panel Mitochondrial disease
Mendeliome v1.3797 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Mendeliome. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Intellectual disability syndromic and non-syndromic v1.508 Zornitza Stark Copied gene DNAJA3 from panel Mitochondrial disease
Intellectual disability syndromic and non-syndromic v1.508 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1278 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Review for gene: DNAJA3 was set to AMBER
Added comment: PMID 30770860 reports 1 individual from a consanguineous family with a homozygous missense variant c.452G>C (p.Arg151Thr) causing developmental delay, intellectual disability, basal‑ganglia abnormalities and peripheral polyneuropathy; PMID 34750646 reports 1 individual from a second unrelated consanguineous family with a homozygous missense c.1282G>A causing childhood‑onset neuroregressive mitochondrial disease with seizures, optic atrophy and basal‑ganglia lesions. Limited functional data.
Sources: Literature
Mendeliome v1.3796 NDUFA4 Zornitza Stark Tag new gene name tag was added to gene: NDUFA4.
Mendeliome v1.3796 NDUFA4 Zornitza Stark commented on gene: NDUFA4: New HGNC approved name is COXFA4
Mitochondrial disease v0.1277 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome
Mitochondrial disease v0.1276 NDUFA4 Zornitza Stark commented on gene: NDUFA4: New HGNC approved name is COXFA4
Mitochondrial disease v0.1276 NDUFA4 Zornitza Stark Tag new gene name tag was added to gene: NDUFA4.
Hereditary Spastic Paraplegia v1.130 ATP5G3 Zornitza Stark Marked gene: ATP5G3 as ready
Hereditary Spastic Paraplegia v1.130 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia v1.130 Zornitza Stark Copied gene ATP5G3 from panel Mitochondrial disease
Hereditary Spastic Paraplegia v1.130 ATP5G3 Zornitza Stark gene: ATP5G3 was added
gene: ATP5G3 was added to Hereditary Spastic Paraplegia. Sources: Literature,Expert Review Green,Literature
new gene name tags were added to gene: ATP5G3.
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to 34636445; 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark Marked gene: ATP5G3 as ready
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1276 Zornitza Stark Copied gene ATP5G3 from panel Mendeliome
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark gene: ATP5G3 was added
gene: ATP5G3 was added to Mitochondrial disease. Sources: Expert Review Green,Literature
new gene name tags were added to gene: ATP5G3.
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to 34636445; 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Genetic Epilepsy v1.309 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Dystonia and Chorea v0.290 ATP5G3 Zornitza Stark Tag new gene name tag was added to gene: ATP5G3.
Pulmonary Fibrosis_Interstitial Lung Disease v0.177 NHP2 Zornitza Stark Publications for gene: NHP2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.176 NHP2 Zornitza Stark Classified gene: NHP2 as Amber List (moderate evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.176 NHP2 Zornitza Stark Gene: nhp2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 40352450, 40073202; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MONDO:0013519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3796 NHP2 Zornitza Stark Publications for gene: NHP2 were set to 18523010; 31985013
Mendeliome v1.3795 NHP2 Zornitza Stark edited their review of gene: NHP2: Added comment: LIMITED by ClinGen Interstitial Lung Disease panel but note two additional families reported in 2025, albeit with limited additional evidence for pathogenicity.; Changed publications: 18523010, 31985013, 40352450, 40073202
Bone Marrow Failure v1.131 NHP2 Zornitza Stark Publications for gene: NHP2 were set to 18523010; 31985013
Bone Marrow Failure v1.130 NHP2 Zornitza Stark changed review comment from: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025.; to: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025, albeit with limited evidence for pathogenicity presented.
Bone Marrow Failure v1.130 NHP2 Zornitza Stark edited their review of gene: NHP2: Added comment: LIMITED by ClinGen Interstitial Lung Disease panel but note two further reports in 2025.; Changed publications: 18523010, 31985013, 40352450, 40073202
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark Marked gene: NHP2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 NHP2 Zornitza Stark Gene: nhp2 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 TERT Zornitza Stark Marked gene: TERT as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 TERT Zornitza Stark Gene: tert has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.175 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
Pulmonary Fibrosis_Interstitial Lung Disease v0.174 TERT Zornitza Stark Publications for gene: TERT were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.173 TERT Zornitza Stark Mode of inheritance for gene: TERT was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.172 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756; Niemann-Pick disease, type B, MIM# 607616; MONDO:0011871
Pulmonary Fibrosis_Interstitial Lung Disease v0.171 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.170 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Marked gene: SLC7A7 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Gene: slc7a7 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.169 SLC7A7 Zornitza Stark Phenotypes for gene: SLC7A7 were changed from to Lysinuric protein intolerance, MIM# 222700
Pulmonary Fibrosis_Interstitial Lung Disease v0.168 SLC7A7 Zornitza Stark Publications for gene: SLC7A7 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.167 SLC7A7 Zornitza Stark Mode of inheritance for gene: SLC7A7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Marked gene: SLC34A2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Gene: slc34a2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.166 SLC34A2 Zornitza Stark Phenotypes for gene: SLC34A2 were changed from to Pulmonary alveolar microlithiasis, MIM# 265100
Pulmonary Fibrosis_Interstitial Lung Disease v0.165 SLC34A2 Zornitza Stark Publications for gene: SLC34A2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.164 SLC34A2 Zornitza Stark Mode of inheritance for gene: SLC34A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Marked gene: SFTPC as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Gene: sftpc has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.163 SFTPC Zornitza Stark Phenotypes for gene: SFTPC were changed from to Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913
Pulmonary Fibrosis_Interstitial Lung Disease v0.162 SFTPC Zornitza Stark Publications for gene: SFTPC were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.161 SFTPC Zornitza Stark Mode of inheritance for gene: SFTPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Marked gene: SFTPB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Gene: sftpb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.160 SFTPB Zornitza Stark Phenotypes for gene: SFTPB were changed from to Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120
Pulmonary Fibrosis_Interstitial Lung Disease v0.159 SFTPB Zornitza Stark Publications for gene: SFTPB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.158 SFTPB Zornitza Stark Mode of inheritance for gene: SFTPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Marked gene: SFTPA2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Gene: sftpa2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.157 SFTPA2 Zornitza Stark Phenotypes for gene: SFTPA2 were changed from to Pulmonary fibrosis, idiopathic, MIM# 178500
Pulmonary Fibrosis_Interstitial Lung Disease v0.156 SFTPA2 Zornitza Stark Publications for gene: SFTPA2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.155 SFTPA2 Zornitza Stark Mode of inheritance for gene: SFTPA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Marked gene: PARN as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Gene: parn has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.154 PARN Zornitza Stark Phenotypes for gene: PARN were changed from to Dyskeratosis congenita, autosomal recessive 6, MIM# 616353; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371
Pulmonary Fibrosis_Interstitial Lung Disease v0.153 PARN Zornitza Stark Publications for gene: PARN were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.152 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.151 PARN Zornitza Stark Mode of inheritance for gene: PARN was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Marked gene: HPS4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Gene: hps4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.150 HPS4 Zornitza Stark Phenotypes for gene: HPS4 were changed from to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556
Pulmonary Fibrosis_Interstitial Lung Disease v0.149 HPS4 Zornitza Stark Publications for gene: HPS4 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.148 HPS4 Zornitza Stark Mode of inheritance for gene: HPS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS4 Zornitza Stark changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.

Restrictive lung disease and pulmonary fibrosis are a feature.
Ataxia v1.160 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Ataxia v1.160 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Severe early-onset obesity v1.23 ISCA-37404-Loss Zornitza Stark Marked Region: ISCA-37404-Loss as ready
Severe early-onset obesity v1.23 ISCA-37404-Loss Zornitza Stark Region: isca-37404-loss has been classified as Green List (High Evidence).
Ataxia v1.160 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Ataxia v1.160 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Ciliopathies v1.96 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Ciliopathies v1.96 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Fetal anomalies v1.482 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Fetal anomalies v1.482 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Growth failure v1.87 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Growth failure v1.87 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Renal Ciliopathies and Nephronophthisis v1.46 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Renal Ciliopathies and Nephronophthisis v1.46 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Syndromic Retinopathy v0.235 ISCA-37405-Loss Zornitza Stark Marked Region: ISCA-37405-Loss as ready
Syndromic Retinopathy v0.235 ISCA-37405-Loss Zornitza Stark Region: isca-37405-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Microcephaly v1.376 ISCA-37406-Loss Zornitza Stark Marked Region: ISCA-37406-Loss as ready
Microcephaly v1.376 ISCA-37406-Loss Zornitza Stark Region: isca-37406-loss has been classified as Green List (High Evidence).
Genetic Epilepsy v1.309 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Genetic Epilepsy v1.309 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37411-Loss Zornitza Stark Marked Region: ISCA-37411-Loss as ready
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37411-Loss Zornitza Stark Region: isca-37411-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37415-Gain Zornitza Stark Marked Region: ISCA-37415-Gain as ready
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37415-Gain Zornitza Stark Region: isca-37415-gain has been classified as Green List (High Evidence).
Ichthyosis and Porokeratosis v1.23 ISCA-37417-Loss Zornitza Stark Marked Region: ISCA-37417-Loss as ready
Ichthyosis and Porokeratosis v1.23 ISCA-37417-Loss Zornitza Stark Region: isca-37417-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37418-Gain Zornitza Stark Marked Region: ISCA-37418-Gain as ready
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37418-Gain Zornitza Stark Region: isca-37418-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.507 ISCA-37418-Gain Zornitza Stark Phenotypes for Region: ISCA-37418-Gain were changed from Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies to Potocki-Lupski syndrome, MIM# 610883
Skeletal dysplasia v0.365 ISCA-37418-Loss Zornitza Stark Marked Region: ISCA-37418-Loss as ready
Skeletal dysplasia v0.365 ISCA-37418-Loss Zornitza Stark Region: isca-37418-loss has been classified as Green List (High Evidence).
Skeletal dysplasia v0.365 ISCA-37418-Loss Zornitza Stark Phenotypes for Region: ISCA-37418-Loss were changed from Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders to Smith-Magenis syndrome, MIM#182290
Common deletion and duplication syndromes v0.146 ISCA-37418-Loss Zornitza Stark Marked Region: ISCA-37418-Loss as ready
Common deletion and duplication syndromes v0.146 ISCA-37418-Loss Zornitza Stark Region: isca-37418-loss has been classified as Green List (High Evidence).
Common deletion and duplication syndromes v0.146 ISCA-37418-Loss Zornitza Stark Phenotypes for Region: ISCA-37418-Loss were changed from Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders to Smith-Magenis syndrome, MIM#182290
Intellectual disability syndromic and non-syndromic v1.506 ISCA-37418-Loss Zornitza Stark Marked Region: ISCA-37418-Loss as ready
Intellectual disability syndromic and non-syndromic v1.506 ISCA-37418-Loss Zornitza Stark Region: isca-37418-loss has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.506 ISCA-37418-Loss Zornitza Stark Phenotypes for Region: ISCA-37418-Loss were changed from Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders to Smith-Magenis syndrome, MIM#182290
Intellectual disability syndromic and non-syndromic v1.505 ISCA-37418-Loss Zornitza Stark Publications for Region: ISCA-37418-Loss were set to
Intellectual disability syndromic and non-syndromic v1.504 ISCA-37421-Gain Zornitza Stark Marked Region: ISCA-37421-Gain as ready
Intellectual disability syndromic and non-syndromic v1.504 ISCA-37421-Gain Zornitza Stark Region: isca-37421-gain has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.504 Sarah Milton Copied Region ISCA-37421-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.504 ISCA-37421-Gain Sarah Milton Region: ISCA-37421-Gain was added
Region: ISCA-37421-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37421-Gain.
Mode of inheritance for Region: ISCA-37421-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37421-Gain were set to 32655619
Phenotypes for Region: ISCA-37421-Gain were set to Chromosome 1q21.1 duplication syndrome, MIM# 612475; intellectual disability; autism; macrocephaly
Intellectual disability syndromic and non-syndromic v1.503 Sarah Milton Copied Region ISCA-37418-Loss from panel Skeletal dysplasia
Intellectual disability syndromic and non-syndromic v1.503 ISCA-37418-Loss Sarah Milton Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,ClinGen,NHS GMS
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
Common deletion and duplication syndromes v0.145 Sarah Milton Copied Region ISCA-37418-Loss from panel Skeletal dysplasia
Common deletion and duplication syndromes v0.145 ISCA-37418-Loss Sarah Milton Region: ISCA-37418-Loss was added
Region: ISCA-37418-Loss was added to Common deletion and duplication syndromes. Sources: Expert Review Green,ClinGen,NHS GMS
Mode of inheritance for Region: ISCA-37418-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37418-Loss were set to Potocki-Lupski syndrome; Smith-Magenis syndrome; moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems; 182290; Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance; hypotonia, failure to thrive, mental retardation, pervasive developmental disorders, congenital anomalies; Dental abnormalities; hypotonia, poor feeding, failure to thrive, developmental delay particularly cognitive and language deficity, mild-moderate intellectual deficit, and neuropsychiatric disorders
Skeletal dysplasia v0.364 ISCA-37418-Loss Sarah Milton reviewed Region: ISCA-37418-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301487, 37628566; Phenotypes: Smith-Magenis syndrome, MIM#182290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v1.502 Sarah Milton Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.502 ISCA-37418-Gain Sarah Milton Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Congenital Heart Defect v0.511 Sarah Milton Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.511 ISCA-37418-Gain Sarah Milton Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies
Ichthyosis and Porokeratosis v1.23 Sarah Milton Copied Region ISCA-37417-Loss from panel Common deletion and duplication syndromes
Ichthyosis and Porokeratosis v1.23 ISCA-37417-Loss Sarah Milton Region: ISCA-37417-Loss was added
Region: ISCA-37417-Loss was added to Ichthyosis and Porokeratosis. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37417-Loss was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for Region: ISCA-37417-Loss were set to Ichthyosis, X-linked, MIM# 308100
Intellectual disability syndromic and non-syndromic v1.501 Sarah Milton Copied Region ISCA-37415-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.501 ISCA-37415-Gain Sarah Milton Region: ISCA-37415-Gain was added
Region: ISCA-37415-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37415-Gain.
Mode of inheritance for Region: ISCA-37415-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37415-Gain were set to 30287593
Phenotypes for Region: ISCA-37415-Gain were set to 16p13.11 microduplication syndrome; intellectual disability; autism; aortopathy
Intellectual disability syndromic and non-syndromic v1.500 Sarah Milton Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.500 ISCA-37411-Loss Sarah Milton Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37411-Loss.
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Genetic Epilepsy v1.309 Sarah Milton Copied Region ISCA-37411-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.309 ISCA-37411-Loss Sarah Milton Region: ISCA-37411-Loss was added
Region: ISCA-37411-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37411-Loss.
Mode of inheritance for Region: ISCA-37411-Loss was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for Region: ISCA-37411-Loss were set to 19372089; 20979196
Phenotypes for Region: ISCA-37411-Loss were set to Chromosome 15q13.3 microdeletion syndrome, MIM# 612001; intellectual disability; epilepsy
Microcephaly v1.376 Sarah Milton Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes
Microcephaly v1.376 ISCA-37406-Loss Sarah Milton Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37406-Loss.
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Intellectual disability syndromic and non-syndromic v1.499 Sarah Milton Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.499 ISCA-37406-Loss Sarah Milton Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37406-Loss.
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Syndromic Retinopathy v0.235 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Syndromic Retinopathy v0.235 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Syndromic Retinopathy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Renal Ciliopathies and Nephronophthisis v1.46 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Renal Ciliopathies and Nephronophthisis v1.46 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Renal Ciliopathies and Nephronophthisis. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Joubert syndrome and other neurological ciliopathies v1.33 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Joubert syndrome and other neurological ciliopathies v1.33 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Joubert syndrome and other neurological ciliopathies. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Growth failure v1.87 Sarah Milton Copied Region ISCA-37406-Loss from panel Common deletion and duplication syndromes
Growth failure v1.87 ISCA-37406-Loss Sarah Milton Region: ISCA-37406-Loss was added
Region: ISCA-37406-Loss was added to Growth failure. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37406-Loss.
Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for Region: ISCA-37406-Loss were set to 20101707; 17473832; 16783566
Phenotypes for Region: ISCA-37406-Loss were set to Chromosome 16p13.3 deletion syndrome, Rubinstein-Taybi deletion syndrome
Intellectual disability syndromic and non-syndromic v1.499 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.499 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Fetal anomalies v1.482 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Fetal anomalies v1.482 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Fetal anomalies. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Ciliopathies v1.96 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Ciliopathies v1.96 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Ciliopathies. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Ataxia v1.160 Sarah Milton Copied Region ISCA-37405-Loss from panel Common deletion and duplication syndromes
Ataxia v1.160 ISCA-37405-Loss Sarah Milton Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Ataxia. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37405-Loss.
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 29146700
Phenotypes for Region: ISCA-37405-Loss were set to Nephronophthisis 1, juvenile, MIM# 256100; Joubert syndrome 4, MIM# 609583; Senior-Loken syndrome 1, MIM# 266900
Severe early-onset obesity v1.23 Sarah Milton Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes
Severe early-onset obesity v1.23 ISCA-37404-Loss Sarah Milton Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Severe early-onset obesity. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Loss.
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Intellectual disability syndromic and non-syndromic v1.498 Sarah Milton Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.498 ISCA-37404-Loss Sarah Milton Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Loss.
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Genetic Epilepsy v1.308 Sarah Milton Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes
Genetic Epilepsy v1.308 ISCA-37404-Loss Sarah Milton Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Loss.
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Ataxia v1.159 Sarah Milton Copied Region ISCA-37404-Loss from panel Common deletion and duplication syndromes
Ataxia v1.159 ISCA-37404-Loss Sarah Milton Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Ataxia. Sources: Expert Review Green,Expert list
SV/CNV tags were added to Region: ISCA-37404-Loss.
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 20301323; 20301505
Phenotypes for Region: ISCA-37404-Loss were set to Angelman syndrome, MIM# 105830; Prader-Willi syndrome, MIM# 176270
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Marked gene: HPS1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Gene: hps1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.147 HPS1 Zornitza Stark Phenotypes for gene: HPS1 were changed from to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748
Pulmonary Fibrosis_Interstitial Lung Disease v0.146 HPS1 Zornitza Stark Publications for gene: HPS1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.145 HPS1 Zornitza Stark Mode of inheritance for gene: HPS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Marked gene: GBA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Gene: gba has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.144 GBA Zornitza Stark Phenotypes for gene: GBA were changed from to Gaucher disease, type I, MIM# 230800
Pulmonary Fibrosis_Interstitial Lung Disease v0.143 GBA Zornitza Stark Mode of inheritance for gene: GBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 GBA Zornitza Stark reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Gaucher disease, type I, MIM# 230800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Marked gene: FAM111B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Gene: fam111b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.142 FAM111B Zornitza Stark Phenotypes for gene: FAM111B were changed from to hereditary sclerosing poikiloderma with tendon and pulmonary involvement MONDO:0014310
Pulmonary Fibrosis_Interstitial Lung Disease v0.141 FAM111B Zornitza Stark Publications for gene: FAM111B were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.140 FAM111B Zornitza Stark Mode of inheritance for gene: FAM111B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Marked gene: DKC1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Gene: dkc1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.139 DKC1 Zornitza Stark Phenotypes for gene: DKC1 were changed from to Dyskeratosis congenita, X-linked 305000; Hoyeraal-Hreidarsson Syndrome
Pulmonary Fibrosis_Interstitial Lung Disease v0.138 DKC1 Zornitza Stark Publications for gene: DKC1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.137 DKC1 Zornitza Stark Mode of inheritance for gene: DKC1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Marked gene: CSF2RB as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Gene: csf2rb has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.136 CSF2RB Zornitza Stark Phenotypes for gene: CSF2RB were changed from to Surfactant metabolism dysfunction, pulmonary, 5, MIM#614370
Pulmonary Fibrosis_Interstitial Lung Disease v0.135 CSF2RB Zornitza Stark Publications for gene: CSF2RB were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.134 CSF2RB Zornitza Stark Mode of inheritance for gene: CSF2RB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Marked gene: CSF2RA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Gene: csf2ra has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.133 CSF2RA Zornitza Stark Phenotypes for gene: CSF2RA were changed from to Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770
Pulmonary Fibrosis_Interstitial Lung Disease v0.132 CSF2RA Zornitza Stark Publications for gene: CSF2RA were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.131 CSF2RA Zornitza Stark Mode of inheritance for gene: CSF2RA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.130 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000 to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Marked gene: ASAH1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.129 ASAH1 Zornitza Stark Phenotypes for gene: ASAH1 were changed from to Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950; Farber lipogranulomatosis, MIM# 228000
Pulmonary Fibrosis_Interstitial Lung Disease v0.128 ASAH1 Zornitza Stark Publications for gene: ASAH1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.127 ASAH1 Zornitza Stark Classified gene: ASAH1 as Red List (low evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.127 ASAH1 Zornitza Stark Gene: asah1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 ASAH1 Zornitza Stark edited their review of gene: ASAH1: Added comment: Respiratory insufficiency due to muscle weakness in Spinal muscular atrophy with progressive myoclonic epilepsy, MIM# 159950, does not fit with panel scope.; Changed rating: RED
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Marked gene: AP3B1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Gene: ap3b1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.126 AP3B1 Zornitza Stark Phenotypes for gene: AP3B1 were changed from to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997
Pulmonary Fibrosis_Interstitial Lung Disease v0.125 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to 10024875; 11809908; 14566336
Pulmonary Fibrosis_Interstitial Lung Disease v0.124 AP3B1 Zornitza Stark Publications for gene: AP3B1 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.123 AP3B1 Zornitza Stark Mode of inheritance for gene: AP3B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Incidentalome v0.370 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to 22464770; 31568572; 19590045; 20215591; 21846512; 2226790; 30681346; 15607392
Incidentalome v0.369 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.368 TNNI3 Zornitza Stark edited their review of gene: TNNI3: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Incidentalome v0.368 TNNI3 Zornitza Stark changed review comment from: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; to: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants causing severe neonatal cardiomyopathy requiring early transplantation. The homozygous p.Arg69Alafs*8 was observed in four of the families, raising concern about founder effect.
Incidentalome v0.368 TNNI3 Zornitza Stark changed review comment from: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.; to: DEFINITIVE by ClinGen for HCM (mono-allelic, dominant negative) and STRONG for DCM.
Incidentalome v0.368 TNNI3 Zornitza Stark commented on gene: TNNI3: DEFINITIVE by ClinGen for HCM (mono-allelic) and STRONG for DCM.
Incidentalome v0.368 TNNI3 Zornitza Stark edited their review of gene: TNNI3: Added comment: PMID 35838873 describes 7 individuals from 5 families with biallelic loss‑of‑function variants (c.150G>A splice and c.204del truncating) causing severe neonatal cardiomyopathy requiring early transplantation.; Changed publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790, 30681346, 35838873
Pulmonary Arterial Hypertension v1.50 HRAS Chirag Patel Marked gene: HRAS as ready
Pulmonary Arterial Hypertension v1.50 HRAS Chirag Patel Gene: hras has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.50 NF1 Chirag Patel Marked gene: NF1 as ready
Pulmonary Arterial Hypertension v1.50 NF1 Chirag Patel Gene: nf1 has been classified as Green List (High Evidence).
Pulmonary Arterial Hypertension v1.50 Chirag Patel Copied gene NF1 from panel Interstitial Lung Disease
Pulmonary Arterial Hypertension v1.50 NF1 Chirag Patel gene: NF1 was added
gene: NF1 was added to Pulmonary Arterial Hypertension. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 33446201; 32742882; 32437637
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Pulmonary Arterial Hypertension v1.49 Chirag Patel Copied gene HRAS from panel Interstitial Lung Disease
Pulmonary Arterial Hypertension v1.49 HRAS Chirag Patel gene: HRAS was added
gene: HRAS was added to Pulmonary Arterial Hypertension. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 18039947; 18978662; 27102959
Phenotypes for gene: HRAS were set to Costello syndrome 218040; chILD, pulmonary arterial hypertension
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Classified gene: KCNK3 as Green List (high evidence)
Pulmonary Fibrosis_Interstitial Lung Disease v0.121 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.120 Chirag Patel Added reviews for gene NF1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.120 Chirag Patel Added reviews for gene HRAS from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.119 Chirag Patel Added reviews for gene KCNK3 from panel Pulmonary Arterial Hypertension
Pulmonary Fibrosis_Interstitial Lung Disease v0.118 TINF2 Chirag Patel Publications for gene: TINF2 were set to 18252230; 21477109; 18979121; 18669893; 21199492; 33097095
Pulmonary Fibrosis_Interstitial Lung Disease v0.118 TINF2 Chirag Patel Publications for gene: TINF2 were set to
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel Marked gene: ZBTB7B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel Gene: zbtb7b has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel Marked gene: ZNF341 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel Gene: znf341 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 Chirag Patel Copied gene ZBTB7B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZBTB7B Chirag Patel gene: ZBTB7B was added
gene: ZBTB7B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: ZBTB7B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZBTB7B were set to PMID: 40392549
Phenotypes for gene: ZBTB7B were set to Inborn error of immunity, MONDO:0003778, ZBTB7B-related
Mode of pathogenicity for gene: ZBTB7B was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 Chirag Patel Copied gene ZNF341 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.117 ZNF341 Chirag Patel gene: ZNF341 was added
gene: ZNF341 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF341 were set to 29907691; 29907690
Phenotypes for gene: ZNF341 were set to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 STAT1 Chirag Patel Marked gene: STAT1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 STAT1 Chirag Patel Gene: stat1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130 to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Phenotypes for gene: TINF2 were changed from to Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Revesz syndrome, MIM# 268130
Pulmonary Fibrosis_Interstitial Lung Disease v0.116 TINF2 Chirag Patel Mode of inheritance for gene: TINF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 TINF2 Chirag Patel Marked gene: TINF2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 TINF2 Chirag Patel Gene: tinf2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 Chirag Patel Copied gene STAT1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STAT1 Chirag Patel gene: STAT1 was added
gene: STAT1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT1 were set to 28427548; 28367431; 21727188; 27379765; 26732859; 27114460
Phenotypes for gene: STAT1 were set to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Childhood bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel Marked gene: STRA6 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel Gene: stra6 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 Chirag Patel Copied gene STRA6 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.115 STRA6 Chirag Patel gene: STRA6 was added
gene: STRA6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STRA6 were set to 17273977; 17503335; 19213032; 26373900; 30880327; 26373900; 25457163
Phenotypes for gene: STRA6 were set to Microphthalmia, syndromic 9, MIM# 601186
Pulmonary Fibrosis_Interstitial Lung Disease v0.114 Chirag Patel Added reviews for gene TINF2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel Marked gene: TBX4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel Gene: tbx4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 Chirag Patel Copied gene TBX4 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.113 TBX4 Chirag Patel gene: TBX4 was added
gene: TBX4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: TBX4 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TBX4 were set to 31761294; 31965066; 29631995; 23592887; 30578383
Phenotypes for gene: TBX4 were set to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension MIM#147891; Amelia, posterior, with pelvic and pulmonary hypoplasia syndrome, MIM# 601360
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel Marked gene: STAT3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel Gene: stat3 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SOX18 Chirag Patel Marked gene: SOX18 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SOX18 Chirag Patel Gene: sox18 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SMAD9 Chirag Patel Marked gene: SMAD9 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 SMAD9 Chirag Patel Gene: smad9 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 Chirag Patel Copied gene STAT3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 PGM3 Chirag Patel Marked gene: PGM3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 PGM3 Chirag Patel Gene: pgm3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.112 STAT3 Chirag Patel gene: STAT3 was added
gene: STAT3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 17881745; 14566054; 25349174; 25038750; 25359994
Phenotypes for gene: STAT3 were set to Hyper-IgE recurrent infection syndrome MIM# 147060; Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Childhood bronchiectasis, interstitial lung disease or pneumatocele
Mode of pathogenicity for gene: STAT3 was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 Chirag Patel Copied gene SOX18 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 SOX18 Chirag Patel gene: SOX18 was added
gene: SOX18 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SOX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX18 were set to 30549413; 33851505
Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MIM# 137940
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 Chirag Patel Copied gene SMAD9 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.111 SMAD9 Chirag Patel gene: SMAD9 was added
gene: SMAD9 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: SMAD9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD9 were set to 29844917; 21920918; 19211612; 21898662
Phenotypes for gene: SMAD9 were set to Pulmonary hypertension, primary, 2 MIM#615342
Pulmonary Fibrosis_Interstitial Lung Disease v0.110 Chirag Patel Copied gene PGM3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.110 PGM3 Chirag Patel gene: PGM3 was added
gene: PGM3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM3 were set to 24698316; 24589341; 28704707; 30264496
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, MIM# 615816; HIES (Job syndrome); Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel Marked gene: RET as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel Gene: ret has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 PHOX2B Chirag Patel Marked gene: PHOX2B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 PHOX2B Chirag Patel Gene: phox2b has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 NF1 Chirag Patel Marked gene: NF1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 NF1 Chirag Patel Gene: nf1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 LTBP4 Chirag Patel Marked gene: LTBP4 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 LTBP4 Chirag Patel Gene: ltbp4 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 Chirag Patel Copied gene RET from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.109 RET Chirag Patel gene: RET was added
gene: RET was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RET were set to 18438890; 16443855; 12566528; 12086152
Phenotypes for gene: RET were set to Central hypoventilation syndrome, congenital, MIM#209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.108 Chirag Patel Copied gene PHOX2B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.108 PHOX2B Chirag Patel gene: PHOX2B was added
gene: PHOX2B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHOX2B were set to 20301600
Phenotypes for gene: PHOX2B were set to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880
Ciliary Dyskinesia v1.68 Chirag Patel Added reviews for gene NME8 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.107 Chirag Patel Copied gene NF1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.107 NF1 Chirag Patel gene: NF1 was added
gene: NF1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NF1 were set to 33446201; 32742882; 32437637
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1, MIM# 162200; Diffuse interstitial lung disease; Pulmonary hypertension
Pulmonary Fibrosis_Interstitial Lung Disease v0.106 Chirag Patel Copied gene LTBP4 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.106 LTBP4 Chirag Patel gene: LTBP4 was added
gene: LTBP4 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP4 were set to 22829427; 19836010; 28684544
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, MIM# 613177; Urban-Rifkin-Davis Syndrome – cutis laxa; Infant/Childhood emphysema
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel Marked gene: LRBA as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel Gene: lrba has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 KCNK3 Chirag Patel Marked gene: KCNK3 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 KCNK3 Chirag Patel Gene: kcnk3 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 Chirag Patel Copied gene LRBA from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.105 LRBA Chirag Patel gene: LRBA was added
gene: LRBA was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRBA were set to 25468195; 30479781; 26768763; 28956255; 28512785
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, MIM# 614700; Immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX) -like; Childhood bronchiectasis and GLILD (Granulomatous and Lymphocytic interstitial lung disease)
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HRAS Chirag Patel Marked gene: HRAS as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HRAS Chirag Patel Gene: hras has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 Chirag Patel Copied gene KCNK3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 KCNK3 Chirag Patel gene: KCNK3 was added
gene: KCNK3 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Expert list
Mode of inheritance for gene: KCNK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: KCNK3 were set to 23883380; 27649371
Phenotypes for gene: KCNK3 were set to Pulmonary hypertension, primary, 4 MIM#615344
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel Marked gene: HPS6 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel Gene: hps6 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 Chirag Patel Copied gene HPS6 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.104 HPS6 Chirag Patel gene: HPS6 was added
gene: HPS6 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075
Pulmonary Arterial Hypertension v1.48 Chirag Patel Added reviews for gene KCNK3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel Marked gene: GATA2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel Gene: gata2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 Chirag Patel Copied gene GATA2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.103 GATA2 Chirag Patel gene: GATA2 was added
gene: GATA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
treatable tags were added to gene: GATA2.
Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GATA2 were set to 21670465; 21242295; 21892158; 25707267; 6577833; 24345756; 24227816
Phenotypes for gene: GATA2 were set to Immunodeficiency 21, MIM# 614172; MONDO:0042982; Emberger syndrome, MIM# 614038; MONDO:0013540; chILD, childhood pulmonary alveolar proteinosis
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 GDNF Chirag Patel Marked gene: GDNF as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 GDNF Chirag Patel Gene: gdnf has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXP1 Chirag Patel Marked gene: FOXP1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXP1 Chirag Patel Gene: foxp1 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Marked gene: FOXC2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FOXC2 Chirag Patel Gene: foxc2 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.102 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies. to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Phenotypes for gene: FGFR2 were changed from Ectrodactyly, pulmonary acinar dysplasia to Crouzon, Apert, Antley-Bixler, Pfeiffer - respiratory distress of the newborn associated with upper airway obstruction/ tracheal anomalies.
Pulmonary Fibrosis_Interstitial Lung Disease v0.101 FGFR2 Chirag Patel Mode of inheritance for gene: FGFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 FGFR2 Chirag Patel Marked gene: FGFR2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 FGFR2 Chirag Patel Gene: fgfr2 has been classified as Amber List (Moderate Evidence).
Pulmonary Arterial Hypertension v1.47 Chirag Patel Added reviews for gene KCNK3 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 Chirag Patel Copied gene HRAS from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 HRAS Chirag Patel gene: HRAS was added
gene: HRAS was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HRAS were set to 18039947; 18978662; 27102959
Phenotypes for gene: HRAS were set to Costello syndrome 218040; chILD, pulmonary arterial hypertension
Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 Chirag Patel Copied gene GDNF from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.100 GDNF Chirag Patel gene: GDNF was added
gene: GDNF was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: GDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GDNF were set to Central hypoventilation syndrome, MIM# 209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FOXP1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FOXP1 Chirag Patel gene: FOXP1 was added
gene: FOXP1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXP1 were set to 28884888
Phenotypes for gene: FOXP1 were set to Hypotonia, developmental delay, atrial septal defect - neuroendocrine hyperplasia of infancy (NEHI)
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FOXC2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FOXC2 Chirag Patel gene: FOXC2 was added
gene: FOXC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXC2 were set to 21918810; 25252123
Phenotypes for gene: FOXC2 were set to Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus 153400; infant pulmonary lymphangiectasia
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 Chirag Patel Copied gene FGFR2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.99 FGFR2 Chirag Patel gene: FGFR2 was added
gene: FGFR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services
Mode of inheritance for gene: FGFR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGFR2 were set to 27323706
Phenotypes for gene: FGFR2 were set to Ectrodactyly, pulmonary acinar dysplasia
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel Marked gene: CARD11 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel Gene: card11 has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 Chirag Patel Copied gene CARD11 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 CARD11 Chirag Patel gene: CARD11 was added
gene: CARD11 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
Mode of inheritance for gene: CARD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CARD11 were set to 28628108; 28826773
Phenotypes for gene: CARD11 were set to Immunodeficiency 11B with atopic dermatitis, MIM# 617638; HIES (Job syndrome); Bronchiectasis
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.98 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 CAV1 Chirag Patel Marked gene: CAV1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 CAV1 Chirag Patel Gene: cav1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Pulmonary arterial hypertension, MONDO:0015924 to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.97 BMPR1B Chirag Patel Phenotypes for gene: BMPR1B were changed from Childhood pulmonary arterial hypertension to Pulmonary arterial hypertension, MONDO:0015924
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR1B Chirag Patel Marked gene: BMPR1B as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR1B Chirag Patel Gene: bmpr1b has been classified as Red List (Low Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR2 Chirag Patel Marked gene: BMPR2 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 BMPR2 Chirag Patel Gene: bmpr2 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ASCL1 Chirag Patel Marked gene: ASCL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ASCL1 Chirag Patel Gene: ascl1 has been classified as Amber List (Moderate Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ACVRL1 Chirag Patel Marked gene: ACVRL1 as ready
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 ACVRL1 Chirag Patel Gene: acvrl1 has been classified as Green List (High Evidence).
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 Chirag Patel Copied gene CAV1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.96 CAV1 Chirag Patel gene: CAV1 was added
gene: CAV1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CAV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAV1 were set to 27717241; 22474227
Phenotypes for gene: CAV1 were set to Pulmonary hypertension, primary, 3, MIM# 615343; Lipodystrophy, familial partial, type 7, MIM# 606721
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 Chirag Patel Copied gene BMPR2 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 BMPR2 Chirag Patel gene: BMPR2 was added
gene: BMPR2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: BMPR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR2 were set to 27587546; 24355637; 22632830; 11115378
Phenotypes for gene: BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600; Pulmonary venoocclusive disease 1 MIM#265450
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 Chirag Patel Copied gene BMPR1B from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.95 BMPR1B Chirag Patel gene: BMPR1B was added
gene: BMPR1B was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Red,Expert list
disputed tags were added to gene: BMPR1B.
Mode of inheritance for gene: BMPR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BMPR1B were set to 22374147; 28768485
Phenotypes for gene: BMPR1B were set to Childhood pulmonary arterial hypertension
Mode of pathogenicity for gene: BMPR1B was set to Other
Pulmonary Fibrosis_Interstitial Lung Disease v0.94 Chirag Patel Copied gene ASCL1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.94 ASCL1 Chirag Patel gene: ASCL1 was added
gene: ASCL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Amber,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services
Mode of inheritance for gene: ASCL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASCL1 were set to 14532329
Phenotypes for gene: ASCL1 were set to Central hypoventilation syndrome, congenital, MIM# 209880
Pulmonary Fibrosis_Interstitial Lung Disease v0.93 Chirag Patel Copied gene ACVRL1 from panel Interstitial Lung Disease
Pulmonary Fibrosis_Interstitial Lung Disease v0.93 ACVRL1 Chirag Patel gene: ACVRL1 was added
gene: ACVRL1 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Expert Review Green,Expert list,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were set to 22632830; 27587546
Phenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Childhood Pulmonary Arterial Hypertension
Mendeliome v1.3795 NEB Sangavi Sivagnanasundram edited their review of gene: NEB: Added comment: MOI expansion and upgrade.
The majority (≈140 families) present with recessive nebulin‑associated nemaline myopathy; >4 unrelated families have a dominant distal myopathy caused by large heterozygous deletions with western‑blot confirmation of a truncated protein.

AD - Amber --> green: ClinGen Congenital Myopathies GCEP has still classified the dominant association as moderate.
AR - still green: Classified as Definitive by ClinGen Congenital Myopathy GCEP: https://search.clinicalgenome.org/CCID:005608; Changed rating: GREEN; Changed publications: 39802796, 30679003, 33933294, 40661861, 40517164, 36714460, 27933661; Changed phenotypes: autosomal dominant nebulin-related myopathy MONDO:1010152, nemaline myopathy 2 MONDO:0009725; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.3795 HSPB6 Sarah Milton edited their review of gene: HSPB6: Added comment: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. In skeletal muscle HSBP6 is thought to function in promoting smooth muscle relaxation through depolymerising actin cytoskeleton.

PMID: 41294008 describes one individual with adult onset cataract and progressive weakness. His similarly affected mother was not genetically tested. Muscle biopsy demonstrated rimmed vacuoles and accumulation of HSPB6.
Variant was a c terminal extension variant (c.464delC|p.(Pro155Argfs*25) which was thought to result in aggregation of protein and was absent from gnomAD v4.

Other similar extension variants present in gnomAD v4 were transfected into cell models with those that had unstable mRNA transcripts not recapitulating findings however one other demonstrated accumulation of protein in certain settings.

Further literature is required.; Changed publications: 41294008; Changed phenotypes: Myopathy, MONDO:0005336, HSPB6-related
Dilated Cardiomyopathy v1.54 Sarah Milton Copied gene HSPB6 from panel Mendeliome
Dilated Cardiomyopathy v1.54 HSPB6 Sarah Milton gene: HSPB6 was added
gene: HSPB6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: HSPB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB6 were set to 29157081
Phenotypes for gene: HSPB6 were set to Dilated cardiomyopathy, MONDO:0005021, HSPB6-related
Mendeliome v1.3795 HSPB6 Sarah Milton changed review comment from: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress.

PMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.( with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis.

This variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations.
As such further literature is required to establish it's role in disease.
Sources: Literature; to: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress.

PMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.(Ser10Phe) with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis.

This variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations.
As such further literature is required to establish it's role in disease.
Sources: Literature
Mendeliome v1.3795 HSPB6 Sarah Milton gene: HSPB6 was added
gene: HSPB6 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: HSPB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPB6 were set to 29157081
Phenotypes for gene: HSPB6 were set to Dilated cardiomyopathy, MONDO:0005021, HSPB6-related
Review for gene: HSPB6 was set to RED
Added comment: HSPB6 encodes heat shock protein family B [small] member 6 and forms homodimers and heterodimers with other members of it's family. One of it's roles is in protecting against cellular stress.

PMID 29157081 reports 11 unrelated individuals with a recurrent missense variant c.29C>T|p.( with dilated cardiomyopathy. Supportive mouse models showed transgenic mice with this variant had early death, and cardiac muscle showed decreased contractility and increased cardiomyocyte apoptosis.

This variant is present in gnomAD at a frequency not compatible with rare Mendelian disease with 818 heterozygotes, 2 homozygotes and higher allele frequency in certain subpopulations.
As such further literature is required to establish it's role in disease.
Sources: Literature
Callosome v0.578 KMT2A Zornitza Stark Marked gene: KMT2A as ready
Callosome v0.578 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Callosome v0.578 KMT2A Zornitza Stark Phenotypes for gene: KMT2A were changed from intellectual disabilty; corpus callosum anomalies; dysmorphism; growth failure; broad thumbs; microcephaly; cryptorchidism; heart malformation; epilepsy; hirsutism to Wiedemann-Steiner syndrome, MIM# 605130
Callosome v0.577 KMT2A Zornitza Stark Mode of pathogenicity for gene: KMT2A was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to None
Callosome v0.576 KMT2A Zornitza Stark Classified gene: KMT2A as Green List (high evidence)
Callosome v0.576 KMT2A Zornitza Stark Gene: kmt2a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v1.497 CTNND2 Zornitza Stark Marked gene: CTNND2 as ready
Intellectual disability syndromic and non-syndromic v1.497 CTNND2 Zornitza Stark Added comment: Comment when marking as ready: Additional cytogenetic evidence noted. However, causality not established by these observations, maintain Amber rating.
Intellectual disability syndromic and non-syndromic v1.497 CTNND2 Zornitza Stark Gene: ctnnd2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v1.497 CTNND2 Zornitza Stark Publications for gene: CTNND2 were set to 25839933; 29127138; 25807484
Lipodystrophy_Lipoatrophy v1.28 ABL1 Zornitza Stark Classified gene: ABL1 as Green List (high evidence)
Lipodystrophy_Lipoatrophy v1.28 ABL1 Zornitza Stark Gene: abl1 has been classified as Green List (High Evidence).
Lipodystrophy_Lipoatrophy v1.27 ABL1 Zornitza Stark Marked gene: ABL1 as ready
Lipodystrophy_Lipoatrophy v1.27 ABL1 Zornitza Stark Gene: abl1 has been removed from the panel.
Lipodystrophy_Lipoatrophy v1.27 ABL1 Zornitza Stark Phenotypes for gene: ABL1 were changed from PMID: 28288113; PMID: 32643838 to Congenital heart defects and skeletal malformations syndrome (MIM# 617602)
Lipodystrophy_Lipoatrophy v1.26 ABL1 Zornitza Stark Publications for gene: ABL1 were set to
Lipodystrophy_Lipoatrophy v1.25 ABL1 Zornitza Stark reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28288113, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome (MIM# 617602); Mode of inheritance: None
Phagocyte Defects v1.45 COPZ1 Zornitza Stark Phenotypes for gene: COPZ1 were changed from Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related to Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439
Phagocyte Defects v1.44 COPZ1 Zornitza Stark edited their review of gene: COPZ1: Changed phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439
Mendeliome v1.3794 COPZ1 Zornitza Stark edited their review of gene: COPZ1: Changed phenotypes: Neutropenia, severe congenital, 12, autosomal recessive, MIM# 621439
Mendeliome v1.3794 COPZ1 Zornitza Stark Phenotypes for gene: COPZ1 were changed from Severe congenital neutropenia, autosomal recessive, MONDO:0028226, COPZ1-related to Neutropenia, severe congenital, 12, autosomal recessive MIM# 621439
Rhabdomyolysis and Metabolic Myopathy v1.32 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Rhabdomyolysis and Metabolic Myopathy v1.32 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Dystonia and Chorea v0.290 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Dystonia and Chorea v0.290 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Retinitis pigmentosa v0.225 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Retinitis pigmentosa v0.225 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Ataxia v1.158 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Ataxia v1.158 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v1.307 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Genetic Epilepsy v1.307 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.32 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.32 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Retinitis pigmentosa v0.225 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Retinitis pigmentosa v0.225 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Retinitis pigmentosa. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Hereditary Neuropathy v1.45 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Hereditary Neuropathy v1.45 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Hereditary Neuropathy - complex. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Genetic Epilepsy v1.307 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Genetic Epilepsy v1.307 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Genetic Epilepsy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Dystonia and Chorea v0.290 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Dystonia and Chorea v0.290 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Dystonia - complex. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Ataxia v1.158 Zornitza Stark Copied gene MT-TC from panel Mitochondrial disease
Ataxia v1.158 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Ataxia. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-TC.
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Publications for gene: MT-TC were set to 8829635; 9185178; 17241783; 11453453; 16955414; 32169613; 36039763; 17724295; 35252560; 34433719; 30030363
Phenotypes for gene: MT-TC were set to Mitochondrial disease (MONDO:0044970), MT-TC-related
Mitochondrial disease v0.1275 MT-TC Zornitza Stark changed review comment from: LIMITED by ClinGen.

There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.

The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).; to: LIMITED by ClinGen.

There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.

Reported phenotypes are variable but include dystonia, neuropathy, myoclonic epilepsy, ataxia, retinitis pigmentosa, and muscle weakness.

The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).
Congenital ophthalmoplegia v1.14 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Congenital ophthalmoplegia v1.14 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.31 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Rhabdomyolysis and Metabolic Myopathy v1.31 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.304 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Deafness_IsolatedAndComplex v1.304 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.31 Zornitza Stark Copied gene MT-TA from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.31 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TA.
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Publications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954
Phenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related
Deafness_IsolatedAndComplex v1.304 Zornitza Stark Copied gene MT-TA from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.304 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TA.
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Publications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954
Phenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related
Congenital ophthalmoplegia v1.14 Zornitza Stark Copied gene MT-TA from panel Mitochondrial disease
Congenital ophthalmoplegia v1.14 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Congenital ophthalmoplegia. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-TA.
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Publications for gene: MT-TA were set to 11715067; 17825557; 14569122; 27014581; 20813205; 25873012; 16476954
Phenotypes for gene: MT-TA were set to Mitochondrial disease (MONDO:0044970), MT-TA-related
Rhabdomyolysis and Metabolic Myopathy v1.30 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Rhabdomyolysis and Metabolic Myopathy v1.30 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mendeliome v1.3793 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Mendeliome v1.3793 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.30 Zornitza Stark Copied gene MT-RNR2 from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.30 MT-RNR2 Zornitza Stark gene: MT-RNR2 was added
gene: MT-RNR2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Red,Literature,Expert Review
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888; 17761147; 24367055
Phenotypes for gene: MT-RNR2 were set to mitochondrial disease MONDO:0044970, MT-RNR2-related
Mendeliome v1.3793 Zornitza Stark Copied gene MT-RNR2 from panel Mitochondrial disease
Mendeliome v1.3793 MT-RNR2 Zornitza Stark gene: MT-RNR2 was added
gene: MT-RNR2 was added to Mendeliome. Sources: Expert Review Red,Literature,Expert Review
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888; 17761147; 24367055
Phenotypes for gene: MT-RNR2 were set to mitochondrial disease MONDO:0044970, MT-RNR2-related
Mitochondrial disease v0.1275 MT-RNR2 Zornitza Stark Phenotypes for gene: MT-RNR2 were changed from to mitochondrial disease MONDO:0044970, MT-RNR2-related
Mitochondrial disease v0.1274 MT-RNR2 Zornitza Stark Publications for gene: MT-RNR2 were set to 29233888
Mitochondrial disease v0.1273 MT-RNR2 Zornitza Stark reviewed gene: MT-RNR2: Rating: RED; Mode of pathogenicity: None; Publications: 17761147, 24367055; Phenotypes: mitochondrial disease MONDO:0044970, MT-RNR2-related; Mode of inheritance: MITOCHONDRIAL
Deafness_IsolatedAndComplex v1.303 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Deafness_IsolatedAndComplex v1.303 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.303 MT-RNR1 Zornitza Stark Deleted their comment
Deafness_IsolatedAndComplex v1.303 Zornitza Stark Copied gene MT-RNR1 from panel Mitochondrial disease
Deafness_IsolatedAndComplex v1.303 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-RNR1.
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Publications for gene: MT-RNR1 were set to 20301595; 7698299; 16380089; 12920080; 24252789; 9490575; 8285309; 9040738; 7689389
Phenotypes for gene: MT-RNR1 were set to Mitochondrial disease (MONDO:0044970), MT-RNR1-related
Stroke v1.38 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Stroke v1.38 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Optic Atrophy v1.64 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Optic Atrophy v1.64 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v2.44 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Early-onset Parkinson disease v2.44 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v2.44 MT-ND6 Zornitza Stark Classified gene: MT-ND6 as Red List (low evidence)
Early-onset Parkinson disease v2.44 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Red List (Low Evidence).
Early-onset Parkinson disease v2.43 MT-ND6 Zornitza Stark edited their review of gene: MT-ND6: Changed rating: RED
Stroke v1.38 Zornitza Stark Copied gene MT-ND6 from panel Mitochondrial disease
Stroke v1.38 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND6.
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 5576045; 20019223; 21196529; 10894222; 14684687; 17535832; 19103152; 21749722; 23813926; 25356405; 14595656; 19062322; 11133798; 30741831; 21364701; 2018041
Phenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related
Optic Atrophy v1.64 Zornitza Stark Copied gene MT-ND6 from panel Mitochondrial disease
Optic Atrophy v1.64 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND6.
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Publications for gene: MT-ND6 were set to 5576045; 20019223; 21196529; 10894222; 14684687; 17535832; 19103152; 21749722; 23813926; 25356405; 14595656; 19062322; 11133798; 30741831; 21364701; 2018041
Phenotypes for gene: MT-ND6 were set to Mitochondrial disease (MONDO:0044970), MT-ND6-related
Early-onset Parkinson disease v2.43 MT-ND6 Zornitza Stark reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Stroke v1.37 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Stroke v1.37 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.29 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Rhabdomyolysis and Metabolic Myopathy v1.29 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Optic Atrophy v1.63 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Optic Atrophy v1.63 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v1.29 Zornitza Stark Copied gene MT-ND5 from panel Mitochondrial disease
Rhabdomyolysis and Metabolic Myopathy v1.29 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334
Phenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Stroke v1.37 Zornitza Stark Copied gene MT-ND5 from panel Mitochondrial disease
Stroke v1.37 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Stroke. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334
Phenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Optic Atrophy v1.63 Zornitza Stark Copied gene MT-ND5 from panel Mitochondrial disease
Optic Atrophy v1.63 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Optic Atrophy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334
Phenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Genetic Epilepsy v1.306 Zornitza Stark Copied gene MT-ND5 from panel Mitochondrial disease
Genetic Epilepsy v1.306 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list
mtDNA tags were added to gene: MT-ND5.
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Publications for gene: MT-ND5 were set to 17400793; 11938446; 12624137; 18495510; 23918514; 17535832; 29506874; 23034978; 16816025; 9299505; 18977334
Phenotypes for gene: MT-ND5 were set to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Optic Atrophy v1.62 MT-ND4L Zornitza Stark Marked gene: MT-ND4L as ready
Optic Atrophy v1.62 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.62 Zornitza Stark Copied gene MT-ND4L from panel Mitochondrial disease
Optic Atrophy v1.62 MT-ND4L Zornitza Stark gene: MT-ND4L was added
gene: MT-ND4L was added to Optic Atrophy. Sources: Expert Review Amber,Expert list
mtDNA tags were added to gene: MT-ND4L.
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Publications for gene: MT-ND4L were set to 8680405; 11935318; 17003408; 22879922; 24568867
Phenotypes for gene: MT-ND4L were set to Mitochondrial disease (MONDO:0044970), MT-ND4L-related
Mendeliome v1.3792 IRX4 Lucy Spencer Phenotypes for gene: IRX4 were changed from Ventricular septal defect to Congenital heart disease MONDO:0005453, IRX4-related
Mendeliome v1.3791 IQSEC3 Lucy Spencer Phenotypes for gene: IQSEC3 were changed from Intellectual disability to Intellectual disability MONDO:0001071, IQSEC3-related
Mendeliome v1.3790 IQSEC2 Lucy Spencer Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1 MIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1 MIM#309530
Mendeliome v1.3789 IQGAP3 Lucy Spencer Phenotypes for gene: IQGAP3 were changed from Hereditary neuropathy to Hereditary peripheral neuropathy MONDO:0020127, IQGAP3-related
Ciliopathies v1.95 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Polydactyly v0.297 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Mendeliome v1.3788 IQCE Lucy Spencer Phenotypes for gene: IQCE were changed from Postaxial polydactyly to Polydactyly, postaxial, type A7 MIM#617642
Mendeliome v1.3787 INSR Lucy Spencer Phenotypes for gene: INSR were changed from Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Leprechaunism, MIM# 246200; Rabson-Mendenhall syndrome, MIM# 262190 to Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968; Donohue syndrome MIM#246200; Rabson-Mendenhall syndrome, MIM# 262190
Mendeliome v1.3786 IMPDH2 Lucy Spencer Phenotypes for gene: IMPDH2 were changed from Neurodevelopmental disorder with dystonia to Neurodevelopmental disorder (MONDO:0700092), IMPDH2-related
Mendeliome v1.3785 IMPDH1 Lucy Spencer Phenotypes for gene: IMPDH1 were changed from Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105) to IMPDH1-related retinopathy MONDO:1040051; Leber congenital amaurosis 11 (MIM# 613837); Retinitis pigmentosa 10 (MIM# 180105)
Mendeliome v1.3784 IMPDH1 Lucy Spencer commented on gene: IMPDH1
Mendeliome v1.3784 IMMP2L Lucy Spencer Phenotypes for gene: IMMP2L were changed from Autism to Autism MONDO:0005260, IMMP2L-related
Mendeliome v1.3783 ILK Lucy Spencer Phenotypes for gene: ILK were changed from Dilated cardiomyopathy to Dilated cardiomyopathy MONDO:0005021, ILK-related
Mendeliome v1.3782 IL2RG Lucy Spencer commented on gene: IL2RG
Mendeliome v1.3782 IL1RAP Lucy Spencer Phenotypes for gene: IL1RAP were changed from Steroid-sensitive nephrotic syndrome to Nephrotic syndrome of childhood - steroid sensitive MONDO:0044781, IL1RAP-related
Mendeliome v1.3781 IL12RB2 Lucy Spencer Phenotypes for gene: IL12RB2 were changed from Susceptibility to mycobacteria and Salmonella to Immunodeficiency disease MONDO:0021094, IL12RB1-related
Mendeliome v1.3780 IL10 Lucy Spencer Phenotypes for gene: IL10 were changed from Diseases of Immune Dysregulation; Early-onset inflammatory bowel disease to Immune system disorder MONDO:0005046, IL10-related; IL10-related early-onset inflammatory bowel disease MONDO:0016542
Mendeliome v1.3779 IL10 Lucy Spencer commented on gene: IL10
Mendeliome v1.3779 IKBKG Lucy Spencer Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081 to IKBKG-related immunodeficiency with or without ectodermal dysplasia MONDO:0100162; Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081
Mendeliome v1.3778 IKBKG Lucy Spencer commented on gene: IKBKG
Mendeliome v1.3778 IGHMBP2 Lucy Spencer Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 to Hereditary peripheral neuropathy MONDO:0020127, IGHMBP2-related; Neuronopathy, distal hereditary motor, type VI, MIM# 604320; Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155
Mendeliome v1.3777 IGHMBP2 Lucy Spencer commented on gene: IGHMBP2
Mendeliome v1.3777 IFT74 Lucy Spencer Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585 to Ciliopathy MONDO:0005308, IFT74-related; Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585
Mendeliome v1.3776 IFT74 Lucy Spencer commented on gene: IFT74
Mendeliome v1.3776 IFT172 Lucy Spencer Phenotypes for gene: IFT172 were changed from Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471 to Ciliopathy MONDO:0005308, IFT172-related; Retinitis pigmentosa 71 616394; Short-rib thoracic dysplasia 10 with or without polydactyly - 615630; Bardet-Biedl syndrome 20, MIM# 619471
Mendeliome v1.3775 IFT172 Lucy Spencer commented on gene: IFT172
Mendeliome v1.3775 IFT140 Lucy Spencer Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180 to IFT140-related recessive ciliopathy MONDO:0100509; Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180
Mendeliome v1.3774 IFT140 Lucy Spencer commented on gene: IFT140
Hereditary Neuropathy v1.44 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458); HMSN to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Hereditary Spastic Paraplegia v1.129 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Ataxia v1.157 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from Spinocerebellar ataxia 18 MIM#607458 to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Mendeliome v1.3774 IFRD1 Lucy Spencer Phenotypes for gene: IFRD1 were changed from Hereditary spastic paraplegia; peripheral neuropathy; ataxia to Hereditary spastic paraplegia MONDO:0019064, IFRD1-related
Mendeliome v1.3773 PLXNA1 Lucy Spencer Publications for gene: PLXNA1 were set to 34054129
Mendeliome v1.3772 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no recent literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic
Lipodystrophy_Lipoatrophy v1.25 ABL1 Sinead OSullivan gene: ABL1 was added
gene: ABL1 was added to Lipodystrophy_Lipoatrophy. Sources: Literature
Mode of inheritance for gene: ABL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ABL1 were set to PMID: 28288113; PMID: 32643838
Review for gene: ABL1 was set to GREEN
Added comment: PMID: 32643838 reports three unrelated patients with lipodystrophy like features
Sources: Literature
Mendeliome v1.3772 PLXNA1 Lucy Spencer edited their review of gene: PLXNA1: Changed rating: RED; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v1.3772 PLXNA1 Lucy Spencer changed review comment from: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic; to: All 3 de novo missense variants in Dworschak et al. (2021) are present in gnomad v4 with 21, 2 and 4 heterozygotes. There is an additional de novo patient in Park 2017 PMID: 28464511, however their variant is also present in gnomad v4 with 5 heterozygotes. There is no new literature supporting the dominant association

The monoallelic assertion for this gene is now RED, still GREEN for biallelic
Mendeliome v1.3772 PLXNA1 Lucy Spencer Mode of inheritance for gene: PLXNA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.3771 PLXNA1 Lucy Spencer commented on gene: PLXNA1
Mendeliome v1.3771 ICE1 Lucy Spencer Phenotypes for gene: ICE1 were changed from Intellectual disability, cerebral atrophy to Intellectual disability (MONDO:0001071), ICE1-related
Mendeliome v1.3770 IBA57 Lucy Spencer commented on gene: IBA57
Mendeliome v1.3770 HUWE1 Lucy Spencer Phenotypes for gene: HUWE1 were changed from Mental retardation, X-linked syndromic, Turner type; Say-Meyer syndrome; Juberg-Marsidi syndrome to Intellectual developmental disorder, X-linked syndromic, Turner type MIM#309590
Mendeliome v1.3769 HTRA1 Lucy Spencer Phenotypes for gene: HTRA1 were changed from {Macular degeneration, age-related, 7}, 6101493; {Macular degeneration, age-related, neovascular type}, 610149; CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 to Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy 2 MIM#616779; Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2 MIM#600142
Mendeliome v1.3768 HSPB1 Lucy Spencer commented on gene: HSPB1
Mendeliome v1.3768 HOXB6 Lucy Spencer Phenotypes for gene: HOXB6 were changed from Hypospadias to Hypospadias MONDO:0005345, HOXB6-related
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Marked gene: ZSWIM6 as ready
Pituitary hormone deficiency v0.166 ZSWIM6 Chirag Patel Gene: zswim6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Marked gene: ZIC2 as ready
Pituitary hormone deficiency v0.166 ZIC2 Chirag Patel Gene: zic2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.166 SLC20A1 Chirag Patel Mode of inheritance for gene: SLC20A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Marked gene: SLC20A1 as ready
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Gene: slc20a1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.165 SLC20A1 Chirag Patel Phenotypes for gene: SLC20A1 were changed from No OMIM number to Bladder-Exstrophy-Epispadias Complex (BEEC)
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Marked gene: SLC15A4 as ready
Pituitary hormone deficiency v0.164 SLC15A4 Chirag Patel Gene: slc15a4 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Marked gene: SIX3 as ready
Pituitary hormone deficiency v0.164 SIX3 Chirag Patel Gene: six3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Marked gene: SEMA3E as ready
Pituitary hormone deficiency v0.164 SEMA3E Chirag Patel Gene: sema3e has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Marked gene: PTCH1 as ready
Pituitary hormone deficiency v0.164 PTCH1 Chirag Patel Gene: ptch1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Marked gene: PSTPIP1 as ready
Pituitary hormone deficiency v0.164 PSTPIP1 Chirag Patel Gene: pstpip1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Marked gene: PAX6 as ready
Pituitary hormone deficiency v0.164 PAX6 Chirag Patel Gene: pax6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Marked gene: NSMF as ready
Pituitary hormone deficiency v0.164 NSMF Chirag Patel Gene: nsmf has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Marked gene: NODAL as ready
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Gene: nodal has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.164 NODAL Chirag Patel Phenotypes for gene: NODAL were changed from Holoprosencephaly; Heterotaxy, visceral, 5 (270100) to Heterotaxy, visceral, 5 (270100)
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Marked gene: NHLH2 as ready
Pituitary hormone deficiency v0.163 NHLH2 Chirag Patel Gene: nhlh2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Marked gene: IL17RD as ready
Pituitary hormone deficiency v0.163 IL17RD Chirag Patel Gene: il17rd has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Marked gene: HS6ST1 as ready
Pituitary hormone deficiency v0.163 HS6ST1 Chirag Patel Gene: hs6st1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Marked gene: HNRNPU as ready
Pituitary hormone deficiency v0.163 HNRNPU Chirag Patel Gene: hnrnpu has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Marked gene: HHIP as ready
Pituitary hormone deficiency v0.163 HHIP Chirag Patel Gene: hhip has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Marked gene: GPR161 as ready
Pituitary hormone deficiency v0.163 GPR161 Chirag Patel Gene: gpr161 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Marked gene: GHRH as ready
Pituitary hormone deficiency v0.163 GHRH Chirag Patel Gene: ghrh has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Marked gene: FOXH1 as ready
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Gene: foxh1 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.163 FOXH1 Chirag Patel Mode of inheritance for gene: FOXH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Marked gene: FLRT3 as ready
Pituitary hormone deficiency v0.162 FLRT3 Chirag Patel Gene: flrt3 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Marked gene: DUSP6 as ready
Pituitary hormone deficiency v0.162 DUSP6 Chirag Patel Gene: dusp6 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Marked gene: BMP2 as ready
Pituitary hormone deficiency v0.162 BMP2 Chirag Patel Gene: bmp2 has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 AXL Chirag Patel Marked gene: AXL as ready
Pituitary hormone deficiency v0.162 AXL Chirag Patel Gene: axl has been classified as Red List (Low Evidence).
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Marked gene: TGIF1 as ready
Pituitary hormone deficiency v0.162 TGIF1 Chirag Patel Gene: tgif1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Marked gene: SPRY4 as ready
Pituitary hormone deficiency v0.162 SPRY4 Chirag Patel Gene: spry4 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 SHH Chirag Patel Marked gene: SHH as ready
Pituitary hormone deficiency v0.162 SHH Chirag Patel Gene: shh has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Marked gene: PRDM13 as ready
Pituitary hormone deficiency v0.162 PRDM13 Chirag Patel Gene: prdm13 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Marked gene: NDNF as ready
Pituitary hormone deficiency v0.162 NDNF Chirag Patel Gene: ndnf has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Marked gene: KISS1 as ready
Pituitary hormone deficiency v0.162 KISS1 Chirag Patel Gene: kiss1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Marked gene: FEZF1 as ready
Pituitary hormone deficiency v0.162 FEZF1 Chirag Patel Gene: fezf1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Marked gene: CLPP as ready
Pituitary hormone deficiency v0.162 CLPP Chirag Patel Gene: clpp has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Marked gene: CCDC141 as ready
Pituitary hormone deficiency v0.162 CCDC141 Chirag Patel Gene: ccdc141 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Marked gene: ARNT2 as ready
Pituitary hormone deficiency v0.162 ARNT2 Chirag Patel Gene: arnt2 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Marked gene: TFR2 as ready
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Gene: tfr2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.162 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.161 TFR2 Chirag Patel Mode of inheritance for gene: TFR2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Marked gene: TCF12 as ready
Pituitary hormone deficiency v0.160 TCF12 Chirag Patel Gene: tcf12 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Marked gene: TBX19 as ready
Pituitary hormone deficiency v0.160 TBX19 Chirag Patel Gene: tbx19 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Marked gene: TACR3 as ready
Pituitary hormone deficiency v0.160 TACR3 Chirag Patel Gene: tacr3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Marked gene: TAC3 as ready
Pituitary hormone deficiency v0.160 TAC3 Chirag Patel Gene: tac3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Marked gene: SOX2 as ready
Pituitary hormone deficiency v0.160 SOX2 Chirag Patel Gene: sox2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Marked gene: SOX10 as ready
Pituitary hormone deficiency v0.160 SOX10 Chirag Patel Gene: sox10 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Marked gene: SLC40A1 as ready
Pituitary hormone deficiency v0.160 SLC40A1 Chirag Patel Gene: slc40a1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Marked gene: SLC29A3 as ready
Pituitary hormone deficiency v0.160 SLC29A3 Chirag Patel Gene: slc29a3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Marked gene: SEMA3F as ready
Pituitary hormone deficiency v0.160 SEMA3F Chirag Patel Gene: sema3f has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Marked gene: SEMA3A as ready
Pituitary hormone deficiency v0.160 SEMA3A Chirag Patel Gene: sema3a has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Marked gene: PROP1 as ready
Pituitary hormone deficiency v0.160 PROP1 Chirag Patel Gene: prop1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Marked gene: PROK2 as ready
Pituitary hormone deficiency v0.160 PROK2 Chirag Patel Gene: prok2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Marked gene: PNPLA6 as ready
Pituitary hormone deficiency v0.160 PNPLA6 Chirag Patel Gene: pnpla6 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Marked gene: PLXNA3 as ready
Pituitary hormone deficiency v0.160 PLXNA3 Chirag Patel Gene: plxna3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Marked gene: PITX2 as ready
Pituitary hormone deficiency v0.160 PITX2 Chirag Patel Gene: pitx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Marked gene: OTX2 as ready
Pituitary hormone deficiency v0.160 OTX2 Chirag Patel Gene: otx2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.160 NR0B1 Chirag Patel Phenotypes for gene: NR0B1 were changed from Adrenal hypoplasia, congenital (MIM# 300200); 46XY sex reversal 2, dosage-sensitive, MIM# 300018 to Adrenal hypoplasia, congenital (MIM# 300200)
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Marked gene: NR0B1 as ready
Pituitary hormone deficiency v0.159 NR0B1 Chirag Patel Gene: nr0b1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Marked gene: LHX4 as ready
Pituitary hormone deficiency v0.159 LHX4 Chirag Patel Gene: lhx4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Marked gene: LHX3 as ready
Pituitary hormone deficiency v0.159 LHX3 Chirag Patel Gene: lhx3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 LHB Chirag Patel Marked gene: LHB as ready
Pituitary hormone deficiency v0.159 LHB Chirag Patel Gene: lhb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KLB Chirag Patel Marked gene: KLB as ready
Pituitary hormone deficiency v0.159 KLB Chirag Patel Gene: klb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Marked gene: KISS1R as ready
Pituitary hormone deficiency v0.159 KISS1R Chirag Patel Gene: kiss1r has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Classified gene: KCNQ1 as Amber List (moderate evidence)
Pituitary hormone deficiency v0.159 KCNQ1 Chirag Patel Gene: kcnq1 has been classified as Amber List (Moderate Evidence).
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Marked gene: HFE2 as ready
Pituitary hormone deficiency v0.158 HFE2 Chirag Patel Gene: hfe2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HFE Chirag Patel Marked gene: HFE as ready
Pituitary hormone deficiency v0.158 HFE Chirag Patel Gene: hfe has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Marked gene: HESX1 as ready
Pituitary hormone deficiency v0.158 HESX1 Chirag Patel Gene: hesx1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Marked gene: HAMP as ready
Pituitary hormone deficiency v0.158 HAMP Chirag Patel Gene: hamp has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Marked gene: GNRHR as ready
Pituitary hormone deficiency v0.158 GNRHR Chirag Patel Gene: gnrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Marked gene: GNRH1 as ready
Pituitary hormone deficiency v0.158 GNRH1 Chirag Patel Gene: gnrh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Marked gene: GLI3 as ready
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Gene: gli3 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.158 GLI3 Chirag Patel Publications for gene: GLI3 were set to 24736735; 15739154
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Marked gene: GLI2 as ready
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Gene: gli2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.157 GLI2 Chirag Patel Publications for gene: GLI2 were set to 14581620; 25878059
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Marked gene: GHRHR as ready
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Gene: ghrhr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.156 GHRHR Chirag Patel Publications for gene: GHRHR were set to
Pituitary hormone deficiency v0.155 GHR Chirag Patel Marked gene: GHR as ready
Pituitary hormone deficiency v0.155 GHR Chirag Patel Gene: ghr has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.155 GHR Chirag Patel Mode of inheritance for gene: GHR was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.154 GHR Chirag Patel Publications for gene: GHR were set to
Pituitary hormone deficiency v0.153 GH1 Chirag Patel Publications for gene: GH1 were set to
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Marked gene: GH1 as ready
Pituitary hormone deficiency v0.152 GH1 Chirag Patel Gene: gh1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Marked gene: FSHB as ready
Pituitary hormone deficiency v0.152 FSHB Chirag Patel Gene: fshb has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Marked gene: FOXA2 as ready
Pituitary hormone deficiency v0.152 FOXA2 Chirag Patel Gene: foxa2 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Marked gene: FGFR1 as ready
Pituitary hormone deficiency v0.152 FGFR1 Chirag Patel Gene: fgfr1 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Marked gene: FGF8 as ready
Pituitary hormone deficiency v0.152 FGF8 Chirag Patel Gene: fgf8 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Marked gene: FGF17 as ready
Pituitary hormone deficiency v0.152 FGF17 Chirag Patel Gene: fgf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Marked gene: DCAF17 as ready
Pituitary hormone deficiency v0.152 DCAF17 Chirag Patel Gene: dcaf17 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Marked gene: CUL4B as ready
Pituitary hormone deficiency v0.152 CUL4B Chirag Patel Gene: cul4b has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Marked gene: BRAF as ready
Pituitary hormone deficiency v0.152 BRAF Chirag Patel Gene: braf has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Marked gene: BMP4 as ready
Pituitary hormone deficiency v0.152 BMP4 Chirag Patel Gene: bmp4 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Marked gene: ARHGAP35 as ready
Pituitary hormone deficiency v0.152 ARHGAP35 Chirag Patel Gene: arhgap35 has been classified as Green List (High Evidence).
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Marked gene: ANOS1 as ready
Pituitary hormone deficiency v0.152 ANOS1 Chirag Patel Gene: anos1 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.364 Sangavi Sivagnanasundram Added reviews for gene FAM20B from panel Mendeliome
Mendeliome v1.3767 FAM20B Sangavi Sivagnanasundram reviewed gene: FAM20B: Rating: GREEN; Mode of pathogenicity: None; Publications: 41277483, 30847897; Phenotypes: Desbuquois dysplasia MONDO:0015426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pituitary hormone deficiency v0.152 ZSWIM6 Chirag Patel reviewed gene: ZSWIM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.152 Chirag Patel Added reviews for gene ZSWIM6 from panel Mendeliome
Pituitary hormone deficiency v0.151 ZIC2 Chirag Patel reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.151 Chirag Patel Added reviews for gene ZIC2 from panel Mendeliome
Pituitary hormone deficiency v0.150 SLC20A1 Chirag Patel reviewed gene: SLC20A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.150 Chirag Patel Added reviews for gene SLC20A1 from panel Mendeliome
Mendeliome v1.3767 Chirag Patel Added reviews for gene SLC15A4 from panel Pituitary hormone deficiency
Pituitary hormone deficiency v0.149 SLC15A4 Chirag Patel reviewed gene: SLC15A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Pituitary hormone deficiency v0.149 PTCH1 Chirag Patel edited their review of gene: PTCH1: Added comment: Pituitary hormone deficiency not a known feature.; Changed rating: RED