Activity

Filter

Cancel
Date Panel Item Activity
3000 actions
Mendeliome v0.12364 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mendeliome v0.12363 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Marked gene: TK2 as ready
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Rhabdomyolysis and Metabolic Myopathy v0.88 TK2 Zornitza Stark Publications for gene: TK2 were set to
Rhabdomyolysis and Metabolic Myopathy v0.87 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33457207; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12362 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Mendeliome v0.12362 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Mendeliome v0.12362 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878; Hypercholanemia, familial 1, MIM# 607748
Mendeliome v0.12361 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Mendeliome v0.12360 TJP2 Zornitza Stark Mode of inheritance for gene: TJP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12359 TJP2 Zornitza Stark reviewed gene: TJP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24614073, 25921221, 31696999, 12704386; Phenotypes: Cholestasis, progressive familial intrahepatic 4, MIM# 615878, Hypercholanemia, familial 1, MIM# 607748; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cholestasis v0.230 TJP2 Zornitza Stark Marked gene: TJP2 as ready
Cholestasis v0.230 TJP2 Zornitza Stark Gene: tjp2 has been classified as Green List (High Evidence).
Cholestasis v0.230 TJP2 Zornitza Stark Phenotypes for gene: TJP2 were changed from to Cholestasis, progressive familial intrahepatic 4, MIM# 615878
Cholestasis v0.229 TJP2 Zornitza Stark Publications for gene: TJP2 were set to
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Macular Dystrophy/Stargardt Disease v0.34 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from Sorsby fundus dystrophy to Sorsby fundus dystrophy, MIM# 136900
Macular Dystrophy/Stargardt Disease v0.33 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.32 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macular Dystrophy/Stargardt Disease v0.31 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12359 TIMP3 Zornitza Stark Marked gene: TIMP3 as ready
Mendeliome v0.12359 TIMP3 Zornitza Stark Gene: timp3 has been classified as Green List (High Evidence).
Mendeliome v0.12359 TIMP3 Zornitza Stark Phenotypes for gene: TIMP3 were changed from to Sorsby fundus dystrophy, MIM# 136900
Mendeliome v0.12358 TIMP3 Zornitza Stark Publications for gene: TIMP3 were set to
Mendeliome v0.12357 TIMP3 Zornitza Stark Mode of inheritance for gene: TIMP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12356 TIMP3 Zornitza Stark reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 7894485, 10854443, 32715858, 32666594, 31757977, 31369189, 30668888; Phenotypes: Sorsby fundus dystrophy, MIM# 136900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mitochondrial disease v0.757 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mitochondrial disease v0.756 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12356 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mendeliome v0.12356 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mendeliome v0.12356 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mendeliome v0.12355 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mendeliome v0.12354 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.27 ZNF423 Arina Puzriakova reviewed gene: ZNF423: Rating: ; Mode of pathogenicity: None; Publications: 22863007, 32925911, 33323469; Phenotypes: Joubert syndrome 19, OMIM:614844, Nephronophthisis 14, OMIM:614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12353 TIMM44 Zornitza Stark Marked gene: TIMM44 as ready
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12353 TIMM44 Zornitza Stark Classified gene: TIMM44 as Red List (low evidence)
Mendeliome v0.12353 TIMM44 Zornitza Stark Gene: timm44 has been classified as Red List (Low Evidence).
Mendeliome v0.12352 TIMM44 Zornitza Stark reviewed gene: TIMM44: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.12352 TICAM1 Zornitza Stark Marked gene: TICAM1 as ready
Mendeliome v0.12352 TICAM1 Zornitza Stark Gene: ticam1 has been classified as Green List (High Evidence).
Mendeliome v0.12352 TICAM1 Zornitza Stark Phenotypes for gene: TICAM1 were changed from to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850
Mendeliome v0.12351 TICAM1 Zornitza Stark Publications for gene: TICAM1 were set to
Mendeliome v0.12350 TICAM1 Zornitza Stark Mode of inheritance for gene: TICAM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TICAM1 Zornitza Stark reviewed gene: TICAM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22105173, 26513235; Phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, MIM# 614850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12349 TTBK2 Zornitza Stark Marked gene: TTBK2 as ready
Mendeliome v0.12349 TTBK2 Zornitza Stark Gene: ttbk2 has been classified as Green List (High Evidence).
Mendeliome v0.12349 TTBK2 Zornitza Stark Phenotypes for gene: TTBK2 were changed from to Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464
Mendeliome v0.12348 TTBK2 Zornitza Stark Publications for gene: TTBK2 were set to
Mendeliome v0.12347 TTBK2 Zornitza Stark Mode of inheritance for gene: TTBK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTBK2 Zornitza Stark reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301723; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12346 TTLL5 Zornitza Stark Marked gene: TTLL5 as ready
Mendeliome v0.12346 TTLL5 Zornitza Stark Gene: ttll5 has been classified as Green List (High Evidence).
Mendeliome v0.12346 TTLL5 Zornitza Stark Phenotypes for gene: TTLL5 were changed from to Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372
Mendeliome v0.12345 TTLL5 Zornitza Stark Publications for gene: TTLL5 were set to
Mendeliome v0.12344 TTLL5 Zornitza Stark Mode of inheritance for gene: TTLL5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12343 TTR Zornitza Stark Marked gene: TTR as ready
Mendeliome v0.12343 TTR Zornitza Stark Gene: ttr has been classified as Green List (High Evidence).
Mendeliome v0.12343 TTR Zornitza Stark Phenotypes for gene: TTR were changed from to Amyloidosis, hereditary, transthyretin-related, MIM #105210; Carpal tunnel syndrome, familial, MIM# 115430
Mendeliome v0.12342 TTR Zornitza Stark Publications for gene: TTR were set to
Mendeliome v0.12341 TTR Zornitza Stark Mode of inheritance for gene: TTR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Marked gene: APOE as ready
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Gene: apoe has been classified as Green List (High Evidence).
Familial hypercholesterolaemia v0.25 APOE Zornitza Stark Phenotypes for gene: APOE were changed from to Hyperlipoproteinemia, type III (MIM#617347); Sea-blue histiocyte disease (MIM#269600)
Familial hypercholesterolaemia v0.24 APOE Zornitza Stark Publications for gene: APOE were set to
Familial hypercholesterolaemia v0.23 APOE Zornitza Stark Mode of inheritance for gene: APOE was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.12340 AKT3 Zornitza Stark Mode of inheritance for gene: AKT3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12339 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure to Leukoencephalopathy with vanishing white matter, MIM# 603896; leukoencephalopathy with vanishing white matter MONDO:0011380; ataxia; spasticity; optic atrophy; primary ovarian failure
Mendeliome v0.12338 PADI6 Zornitza Stark Marked gene: PADI6 as ready
Mendeliome v0.12338 PADI6 Zornitza Stark Gene: padi6 has been classified as Green List (High Evidence).
Mendeliome v0.12338 PADI6 Zornitza Stark Phenotypes for gene: PADI6 were changed from to Pre-implantation embryonic lethality 2 MIM#617234; Multi locus imprinting disturbance in offspring; Recurrent hydatiform mole
Mendeliome v0.12337 PADI6 Zornitza Stark Publications for gene: PADI6 were set to
Mendeliome v0.12336 PADI6 Zornitza Stark Mode of inheritance for gene: PADI6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12335 PADI3 Zornitza Stark Marked gene: PADI3 as ready
Mendeliome v0.12335 PADI3 Zornitza Stark Gene: padi3 has been classified as Green List (High Evidence).
Mendeliome v0.12335 PADI3 Zornitza Stark Phenotypes for gene: PADI3 were changed from to Uncombable hair syndrome - MIM#191480
Mendeliome v0.12334 PADI3 Zornitza Stark Publications for gene: PADI3 were set to
Mendeliome v0.12333 PADI3 Zornitza Stark Mode of inheritance for gene: PADI3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1534 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
Genetic Epilepsy v0.1533 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Genetic Epilepsy v0.1532 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1531 PACS2 Zornitza Stark reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66 - MIM#618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12332 PACS2 Zornitza Stark Marked gene: PACS2 as ready
Mendeliome v0.12332 PACS2 Zornitza Stark Gene: pacs2 has been classified as Green List (High Evidence).
Mendeliome v0.12332 PACS2 Zornitza Stark Phenotypes for gene: PACS2 were changed from to Developmental and epileptic encephalopathy 66 - MIM#618067
Mendeliome v0.12331 PACS2 Zornitza Stark Publications for gene: PACS2 were set to
Mendeliome v0.12330 PACS2 Zornitza Stark Mode of inheritance for gene: PACS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12329 PABPN1 Zornitza Stark Marked gene: PABPN1 as ready
Mendeliome v0.12329 PABPN1 Zornitza Stark Gene: pabpn1 has been classified as Green List (High Evidence).
Mendeliome v0.12329 PABPN1 Zornitza Stark Phenotypes for gene: PABPN1 were changed from to Oculopharyngeal muscular dystrophy - MIM#164300
Mendeliome v0.12328 PABPN1 Zornitza Stark Publications for gene: PABPN1 were set to
Mendeliome v0.12327 PABPN1 Zornitza Stark Tag STR tag was added to gene: PABPN1.
Mendeliome v0.12327 PABPN1 Zornitza Stark Mode of inheritance for gene: PABPN1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12326 AGK Zornitza Stark Marked gene: AGK as ready
Mendeliome v0.12326 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Mendeliome v0.12326 AGK Zornitza Stark Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Mendeliome v0.12325 AGK Zornitza Stark Publications for gene: AGK were set to
Mendeliome v0.12324 AGK Zornitza Stark Mode of inheritance for gene: AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTBK2 Manny Jacobs reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18037885, 31485862, 20667868, 27165044; Phenotypes: Spinocerebellar ataxia 11, MIM# 604432, MONDO:0011464; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12323 EIF2B5 Bryony Thompson Marked gene: EIF2B5 as ready
Mendeliome v0.12323 EIF2B5 Bryony Thompson Gene: eif2b5 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.40 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTLL5 Manny Jacobs reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24791901, 34203883, 28356705; Phenotypes: Cone-rod dystrophy 19, MIM# 615860, MONDO:0014372; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12323 TTR Manny Jacobs reviewed gene: TTR: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:1570831, 1626570, 16115295, 16194874, 26537620; Phenotypes: Amyloidosis, hereditary, transthyretin-related, MIM #105210, Carpal tunnel syndrome, familial, MIM# 115430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Familial hypercholesterolaemia v0.22 APOE Lucy Spencer changed review comment from: PMID: 27014949- The leu167del variant has also been associated with hypercholesterolaemia, it only has 3 hets 0 homs in v2. It has been seen to segregate in several families with ADH

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

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

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

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

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

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

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

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

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

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

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

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

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

Rated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.
Mendeliome v0.12224 SERPINA1 Samantha Ayres reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12224 THRA Zornitza Stark Marked gene: THRA as ready
Mendeliome v0.12224 THRA Zornitza Stark Gene: thra has been classified as Green List (High Evidence).
Mendeliome v0.12224 THRA Zornitza Stark Phenotypes for gene: THRA were changed from to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450
Mendeliome v0.12223 THRA Zornitza Stark Publications for gene: THRA were set to
Mendeliome v0.12222 THRA Zornitza Stark Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12221 THRA Zornitza Stark reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 27381958, 24847459, 27144938; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4635 KCND3 Elena Savva Publications for gene: KCND3 were set to 32823520
Mendeliome v0.12221 TGM1 Zornitza Stark Marked gene: TGM1 as ready
Mendeliome v0.12221 TGM1 Zornitza Stark Gene: tgm1 has been classified as Green List (High Evidence).
Mendeliome v0.12221 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Mendeliome v0.12220 TGM1 Zornitza Stark Publications for gene: TGM1 were set to
Mendeliome v0.12219 TGM1 Zornitza Stark Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM1 Zornitza Stark reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12218 TGM3 Zornitza Stark Marked gene: TGM3 as ready
Mendeliome v0.12218 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12218 TGM3 Zornitza Stark Phenotypes for gene: TGM3 were changed from to Uncombable hair syndrome 2 MIM#617251
Mendeliome v0.12217 TGM3 Zornitza Stark Publications for gene: TGM3 were set to
Mendeliome v0.12216 TGM3 Zornitza Stark Mode of inheritance for gene: TGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12215 TGM3 Zornitza Stark Classified gene: TGM3 as Amber List (moderate evidence)
Mendeliome v0.12215 TGM3 Zornitza Stark Gene: tgm3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Marked gene: OAT as ready
Mendeliome v0.12214 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Mendeliome v0.12214 OAT Zornitza Stark Phenotypes for gene: OAT were changed from to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Mendeliome v0.12213 OAT Zornitza Stark Publications for gene: OAT were set to
Mendeliome v0.12212 OAT Zornitza Stark Mode of inheritance for gene: OAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Marked gene: OAT as ready
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.12 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 33068755; 1618792; 2220818; 3339136; 3417397; 2916581; 1737786; 33463379
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia
Sources: Expert Review
Hyperammonaemia v0.6 OAT Zornitza Stark Marked gene: OAT as ready
Hyperammonaemia v0.6 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Hyperammonaemia v0.6 OAT Zornitza Stark Publications for gene: OAT were set to
Hyperammonaemia v0.5 OAT Zornitza Stark Classified gene: OAT as Red List (low evidence)
Hyperammonaemia v0.5 OAT Zornitza Stark Gene: oat has been classified as Red List (Low Evidence).
Mendeliome v0.12211 NUP93 Zornitza Stark Marked gene: NUP93 as ready
Mendeliome v0.12211 NUP93 Zornitza Stark Gene: nup93 has been classified as Green List (High Evidence).
Mendeliome v0.12211 NUP93 Zornitza Stark Phenotypes for gene: NUP93 were changed from to Nephrotic syndrome, type 12 - MIM#616892
Mendeliome v0.12210 NUP93 Zornitza Stark Publications for gene: NUP93 were set to
Mendeliome v0.12209 NUP93 Zornitza Stark Mode of inheritance for gene: NUP93 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark Tag for review tag was added to gene: NUP62.
Mackenzie's Mission_Reproductive Carrier Screening v0.108 NUP62 Zornitza Stark reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12208 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Mendeliome v0.12208 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12208 NUP62 Zornitza Stark Phenotypes for gene: NUP62 were changed from to Striatonigral degeneration, infantile - MIM#271930
Mendeliome v0.12207 NUP62 Zornitza Stark Publications for gene: NUP62 were set to
Mendeliome v0.12206 NUP62 Zornitza Stark Mode of inheritance for gene: NUP62 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12205 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Mendeliome v0.12205 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12204 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Regression v0.463 NUP62 Zornitza Stark Classified gene: NUP62 as Amber List (moderate evidence)
Regression v0.463 NUP62 Zornitza Stark Gene: nup62 has been classified as Amber List (Moderate Evidence).
Regression v0.462 NUP62 Zornitza Stark Tag founder tag was added to gene: NUP62.
Mendeliome v0.12204 ADH1B Zornitza Stark Marked gene: ADH1B as ready
Mendeliome v0.12204 ADH1B Zornitza Stark Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12204 ADH1B Zornitza Stark Mode of inheritance for gene: ADH1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.60 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Vasculitis v0.60 CASP8 Zornitza Stark Gene: casp8 has been classified as Red List (Low Evidence).
Vasculitis v0.60 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Vasculitis v0.59 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Vasculitis v0.58 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.122 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Disorders of immune dysregulation v0.121 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Vasculitis v0.57 CASP8 Zornitza Stark Classified gene: CASP8 as Red List (low evidence)
Vasculitis v0.57 CASP8 Zornitza Stark Gene: casp8 has been classified as Red List (Low Evidence).
Vasculitis v0.56 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: RED; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.120 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Disorders of immune dysregulation v0.119 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12203 CASP8 Zornitza Stark Marked gene: CASP8 as ready
Mendeliome v0.12203 CASP8 Zornitza Stark Added comment: Comment when marking as ready: Amber in view of the functional data.
Mendeliome v0.12203 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.118 CASP8 Zornitza Stark reviewed gene: CASP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 12353035, 25814141, 12654726, 17213198, 16148088; Phenotypes: Autoimmune lymphoproliferative syndrome, type IIB MIM#607271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12203 CASP8 Zornitza Stark Phenotypes for gene: CASP8 were changed from to Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Mendeliome v0.12202 CASP8 Zornitza Stark Publications for gene: CASP8 were set to
Mendeliome v0.12201 CASP8 Zornitza Stark Mode of inheritance for gene: CASP8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12200 CASP8 Zornitza Stark Classified gene: CASP8 as Amber List (moderate evidence)
Mendeliome v0.12200 CASP8 Zornitza Stark Gene: casp8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12199 ADGRV1 Zornitza Stark Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Severe early-onset obesity v1.5 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Severe early-onset obesity v1.4 ADCY3 Zornitza Stark gene: ADCY3 was added
gene: ADCY3 was added to Severe early-onset obesity. Sources: Expert Review
Mode of inheritance for gene: ADCY3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY3 were set to 11055432; 29311636; 29311637
Phenotypes for gene: ADCY3 were set to {Obesity, susceptibility to, BMIQ19} MIM#617885
Review for gene: ADCY3 was set to AMBER
Added comment: PMID: 29311636 - founder canonical splice variant (c.2433-1G>A) in Greenlandic populations demonstrate higher risk of obesity, type 2 diabetes in homozygous individuals PMID: 29311637 - 4 unrelated families with severe early onset obesity, three with homozygous variants.
Sources: Expert Review
Mendeliome v0.12198 ADCY3 Zornitza Stark Marked gene: ADCY3 as ready
Mendeliome v0.12198 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12198 ADCY3 Zornitza Stark Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885
Mendeliome v0.12197 ADCY3 Zornitza Stark Publications for gene: ADCY3 were set to
Mendeliome v0.12196 ADCY3 Zornitza Stark Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12195 ADCY3 Zornitza Stark Classified gene: ADCY3 as Amber List (moderate evidence)
Mendeliome v0.12195 ADCY3 Zornitza Stark Gene: adcy3 has been classified as Amber List (Moderate Evidence).
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Marked gene: CASP10 as ready
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Gene: casp10 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.118 CASP10 Zornitza Stark Phenotypes for gene: CASP10 were changed from to Autoimmune lymphoproliferative syndrome, type II MIM#603909
Disorders of immune dysregulation v0.117 CASP10 Zornitza Stark Publications for gene: CASP10 were set to
Disorders of immune dysregulation v0.116 CASP10 Zornitza Stark Mode of inheritance for gene: CASP10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Disorders of immune dysregulation v0.115 CASP10 Zornitza Stark reviewed gene: CASP10: Rating: GREEN; Mode of pathogenicity: None; Publications: 34329798, 34384744, 20301287; Phenotypes: Autoimmune lymphoproliferative syndrome, type II MIM#603909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12194 TGFB3 Zornitza Stark Marked gene: TGFB3 as ready
Mendeliome v0.12194 TGFB3 Zornitza Stark Gene: tgfb3 has been classified as Green List (High Evidence).
Mendeliome v0.12194 TGFB3 Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MIM# 615582
Mendeliome v0.12193 TGFB3 Zornitza Stark Publications for gene: TGFB3 were set to
Mendeliome v0.12192 TGFB3 Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB3 Zornitza Stark reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 25835445, 15639475; Phenotypes: Loeys-Dietz syndrome 5, MIM# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12191 TGFB2 Zornitza Stark Marked gene: TGFB2 as ready
Mendeliome v0.12191 TGFB2 Zornitza Stark Gene: tgfb2 has been classified as Green List (High Evidence).
Mendeliome v0.12191 TGFB2 Zornitza Stark Phenotypes for gene: TGFB2 were changed from to Loeys-Dietz syndrome 4, MIM# 614816
Mendeliome v0.12190 TGFB2 Zornitza Stark Mode of inheritance for gene: TGFB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB2 Zornitza Stark reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 4, MIM# 614816; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12189 TGFB1 Zornitza Stark Marked gene: TGFB1 as ready
Mendeliome v0.12189 TGFB1 Zornitza Stark Gene: tgfb1 has been classified as Green List (High Evidence).
Mendeliome v0.12189 TGFB1 Zornitza Stark Phenotypes for gene: TGFB1 were changed from to Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213; Camurati-Engelmann disease, MIM# 131300
Mendeliome v0.12188 TGFB1 Zornitza Stark Publications for gene: TGFB1 were set to
Mendeliome v0.12187 TGFB1 Zornitza Stark Mode of inheritance for gene: TGFB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TGFB1 Zornitza Stark reviewed gene: TGFB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29483653, 10973241, 35315241, 30721323; Phenotypes: Inflammatory bowel disease, immunodeficiency, and encephalopathy MIM# 618213, Camurati-Engelmann disease, MIM# 131300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12186 TG Zornitza Stark Marked gene: TG as ready
Mendeliome v0.12186 TG Zornitza Stark Gene: tg has been classified as Green List (High Evidence).
Mendeliome v0.12186 TG Zornitza Stark Phenotypes for gene: TG were changed from to Thyroid dyshormonogenesis 3, MIM# 274700
Mendeliome v0.12185 TG Zornitza Stark Publications for gene: TG were set to
Mendeliome v0.12184 TG Zornitza Stark Mode of inheritance for gene: TG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 TG Zornitza Stark reviewed gene: TG: Rating: GREEN; Mode of pathogenicity: None; Publications: 33832185, 19169491, 28620499, 18631008, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, MIM# 274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali Deleted their comment
Mendeliome v0.12183 OAT Krithika Murali edited their review of gene: OAT: Added comment: Biallelic variants associated with deficiency of mitochondrial enzyme ornithine aminotransferase and elevation of plasma ornithine levels without elevation of ammonia. Characterized by ocular anomalies; however, neurological and muscular features may also be present.; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 OAT Krithika Murali reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: None
Hyperammonaemia v0.4 OAT Krithika Murali reviewed gene: OAT: Rating: RED; Mode of pathogenicity: None; Publications: 33068755, 1618792, 2220818, 3339136, 3417397, 2916581, 1737786, 33463379; Phenotypes: Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12183 NUP93 Krithika Murali reviewed gene: NUP93: Rating: GREEN; Mode of pathogenicity: None; Publications: 26878725, 26878725, 33578576, 30741391; Phenotypes: Nephrotic syndrome, type 12 - MIM#616892; Mode of inheritance: None
Mendeliome v0.12183 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591 to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12182 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.462 NUP62 Krithika Murali reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: None; Publications: 16786527; Phenotypes: Striatonigral degeneration, infantile - MIM#271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12182 ADRB1 Elena Savva Phenotypes for gene: ADRB1 were changed from to [Resting heart rate] MIM#607276; [Short sleep, familial natural, 2] MIM#618591
Mendeliome v0.12181 ADRB1 Elena Savva Marked gene: ADRB1 as ready
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12181 ADRB1 Elena Savva Mode of inheritance for gene: ADRB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12182 ADRB1 Elena Savva Publications for gene: ADRB1 were set to
Mendeliome v0.12181 ADRB1 Elena Savva Classified gene: ADRB1 as Red List (low evidence)
Mendeliome v0.12181 ADRB1 Elena Savva Gene: adrb1 has been classified as Red List (Low Evidence).
Mendeliome v0.12180 ADRB1 Elena Savva reviewed gene: ADRB1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31473062, 34716504; Phenotypes: [Resting heart rate] MIM#607276, [Short sleep, familial natural, 2] MIM#618591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.12180 NTN1 Zornitza Stark Marked gene: NTN1 as ready
Mendeliome v0.12180 NTN1 Zornitza Stark Gene: ntn1 has been classified as Green List (High Evidence).
Mendeliome v0.12180 NTN1 Zornitza Stark Phenotypes for gene: NTN1 were changed from to Mirror movements 4 MIM#618264
Mendeliome v0.12179 NTN1 Zornitza Stark Publications for gene: NTN1 were set to
Mendeliome v0.12178 NTN1 Zornitza Stark Mode of inheritance for gene: NTN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12177 NSD1 Zornitza Stark Marked gene: NSD1 as ready
Mendeliome v0.12177 NSD1 Zornitza Stark Gene: nsd1 has been classified as Green List (High Evidence).
Mendeliome v0.12177 NSD1 Zornitza Stark Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD
Mendeliome v0.12176 NSD1 Zornitza Stark Publications for gene: NSD1 were set to
Mendeliome v0.12175 NSD1 Zornitza Stark Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12174 NRCAM Zornitza Stark Marked gene: NRCAM as ready
Mendeliome v0.12174 NRCAM Zornitza Stark Gene: nrcam has been classified as Green List (High Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Marked gene: NR4A3 as ready
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12174 NR4A3 Zornitza Stark Classified gene: NR4A3 as Red List (low evidence)
Mendeliome v0.12174 NR4A3 Zornitza Stark Gene: nr4a3 has been classified as Red List (Low Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Mendeliome v0.12173 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Green List (High Evidence).
Mendeliome v0.12173 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Mendeliome v0.12172 NKX2-5 Zornitza Stark reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 25742962, 26805889; Phenotypes: Ventricular septal defect 3 (MIM#614432), Tetralogy of Fallot (MIM#187500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12172 NKX2-5 Zornitza Stark Phenotypes for gene: NKX2-5 were changed from to Atrial septal defect 7, with or without AV conduction defects, MIM# 108900; Ventricular septal defect 3 (MIM#614432); Tetralogy of Fallot (MIM#187500)
Mendeliome v0.12171 NKX2-5 Zornitza Stark Publications for gene: NKX2-5 were set to
Mendeliome v0.12170 NKX2-5 Zornitza Stark Mode of inheritance for gene: NKX2-5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12169 NKX2-1 Zornitza Stark Marked gene: NKX2-1 as ready
Mendeliome v0.12169 NKX2-1 Zornitza Stark Gene: nkx2-1 has been classified as Green List (High Evidence).
Mendeliome v0.12169 NKX2-1 Zornitza Stark Phenotypes for gene: NKX2-1 were changed from to Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978; Chorea, hereditary benign MIM#118700
Mendeliome v0.12168 NKX2-1 Zornitza Stark Publications for gene: NKX2-1 were set to
Mendeliome v0.12167 NKX2-1 Zornitza Stark Mode of inheritance for gene: NKX2-1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mendeliome v0.12166 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mendeliome v0.12165 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mendeliome v0.12164 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12163 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mendeliome v0.12163 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mendeliome v0.12163 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Mendeliome v0.12162 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mendeliome v0.12161 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12160 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mendeliome v0.12160 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mendeliome v0.12160 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Mendeliome v0.12159 ADH1B Elena Savva Phenotypes for gene: ADH1B were changed from to Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780; {Alcohol dependence, protection against} MIM#103780
Mendeliome v0.12159 ADH1B Elena Savva Mode of pathogenicity for gene: ADH1B was changed from to None
Mendeliome v0.12158 ADH1B Elena Savva Classified gene: ADH1B as Red List (low evidence)
Mendeliome v0.12158 ADH1B Elena Savva Gene: adh1b has been classified as Red List (Low Evidence).
Mendeliome v0.12157 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mendeliome v0.12156 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12155 ADH1B Elena Savva reviewed gene: ADH1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aerodigestive tract cancer, squamous cell, alcohol-related, protection against} MIM#103780, {Alcohol dependence, protection against} MIM#103780; Mode of inheritance: Unknown
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark changed review comment from: Multiple affected individuals reported; DD/ID is variable but present in most.; to: Multiple affected individuals reported; seizures are part of the phenotype.
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Marked gene: CACNA2D2 as ready
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Gene: cacna2d2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1531 CACNA2D2 Zornitza Stark Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501
Genetic Epilepsy v0.1530 CACNA2D2 Zornitza Stark Publications for gene: CACNA2D2 were set to
Genetic Epilepsy v0.1529 CACNA2D2 Zornitza Stark Mode of inheritance for gene: CACNA2D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12155 ADGRV1 Elena Savva Phenotypes for gene: ADGRV1 were changed from ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472 to ?Febrile seizures, familial, 4 MIM#604352; Usher syndrome, type 2C MIM#60547; Usher syndrome, type 2C, GPR98/PDZD7 digenic MIM#605472
Genetic Epilepsy v0.1528 CACNA2D2 Zornitza Stark reviewed gene: CACNA2D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23339110, 24358150, 30410802, 29997391, 31402629, 11487633, 11756448, 4177347, 14660671, 15331424; Phenotypes: Cerebellar atrophy with seizures and variable developmental delay MIM#618501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12154 CACNA1F Zornitza Stark Tag SV/CNV tag was added to gene: CACNA1F.
Mendeliome v0.12154 CA2 Zornitza Stark Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
Mendeliome v0.12153 CA2 Zornitza Stark Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12152 CA2 Zornitza Stark Deleted their comment
Mitochondrial disease v0.755 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mitochondrial disease v0.755 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mitochondrial disease v0.755 NUBPL Zornitza Stark Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544
Mendeliome v0.12152 CASP8 Ain Roesley changed review comment from: Boderline red/amber

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

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

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

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

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

Accounts for ~2% of Coffin Siris syndrome.

Germline LoF variants also linked to familial meningioma.
Mendeliome v0.12035 SMARCE1 Zornitza Stark edited their review of gene: SMARCE1: Changed publications: 23377182, 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Changed phenotypes: Coffin-Siris syndrome 5, MIM# 616938, {Meningioma, familial, susceptibility to} 607174
Mendeliome v0.12035 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to 22426308; 23906836; 23929686; 32732226; 32436246; 32410215; 34205270
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4621 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Intellectual disability syndromic and non-syndromic v0.4620 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Intellectual disability syndromic and non-syndromic v0.4619 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4618 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Hypertrichosis syndromes v0.39 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Hypertrichosis syndromes v0.38 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Hypertrichosis syndromes v0.37 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrichosis syndromes v0.36 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12034 SMARCE1 Zornitza Stark Marked gene: SMARCE1 as ready
Mendeliome v0.12034 SMARCE1 Zornitza Stark Gene: smarce1 has been classified as Green List (High Evidence).
Mendeliome v0.12034 SMARCE1 Zornitza Stark Phenotypes for gene: SMARCE1 were changed from to Coffin-Siris syndrome 5, MIM# 616938
Mendeliome v0.12033 SMARCE1 Zornitza Stark Publications for gene: SMARCE1 were set to
Mendeliome v0.12032 SMARCE1 Zornitza Stark Mode of inheritance for gene: SMARCE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 SMARCE1 Zornitza Stark reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 23906836, 23929686, 32732226, 32436246, 32410215, 34205270; Phenotypes: Coffin-Siris syndrome 5, MIM# 616938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12031 MAX Zornitza Stark Marked gene: MAX as ready
Mendeliome v0.12031 MAX Zornitza Stark Gene: max has been classified as Green List (High Evidence).
Mendeliome v0.12031 MAX Zornitza Stark Phenotypes for gene: MAX were changed from to {Pheochromocytoma, susceptibility to}, MIM# 171300
Mendeliome v0.12030 MAX Zornitza Stark Publications for gene: MAX were set to
Mendeliome v0.12029 MAX Zornitza Stark Mode of inheritance for gene: MAX was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAX Zornitza Stark reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21685915; Phenotypes: {Pheochromocytoma, susceptibility to}, MIM# 171300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12028 MAT1A Zornitza Stark Marked gene: MAT1A as ready
Mendeliome v0.12028 MAT1A Zornitza Stark Gene: mat1a has been classified as Green List (High Evidence).
Mendeliome v0.12028 MAT1A Zornitza Stark Phenotypes for gene: MAT1A were changed from to Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850; Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850; Disorders of the metabolism of sulphur amino acids
Mendeliome v0.12027 MAT1A Zornitza Stark Publications for gene: MAT1A were set to
Mendeliome v0.12026 MAT1A Zornitza Stark Mode of inheritance for gene: MAT1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4618 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Intellectual disability syndromic and non-syndromic v0.4617 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Intellectual disability syndromic and non-syndromic v0.4616 SNX14 Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4615 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12025 SNX14 Zornitza Stark Marked gene: SNX14 as ready
Mendeliome v0.12025 SNX14 Zornitza Stark Gene: snx14 has been classified as Green List (High Evidence).
Mendeliome v0.12025 SNX14 Zornitza Stark Phenotypes for gene: SNX14 were changed from to Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354)
Mendeliome v0.12024 SNX14 Zornitza Stark Publications for gene: SNX14 were set to
Mendeliome v0.12023 SNX14 Zornitza Stark Mode of inheritance for gene: SNX14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNX14 Zornitza Stark reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: None; Publications: 25439728, 25848753, 27913285; Phenotypes: Spinocerebellar ataxia, autosomal recessive 20 (MIM#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12022 SNORD118 Zornitza Stark Marked gene: SNORD118 as ready
Mendeliome v0.12022 SNORD118 Zornitza Stark Gene: snord118 has been classified as Green List (High Evidence).
Mendeliome v0.12022 SNORD118 Zornitza Stark Phenotypes for gene: SNORD118 were changed from to Leukoencephalopathy, brain calcifications, and cysts, MIM#614561
Mendeliome v0.12021 SNORD118 Zornitza Stark Publications for gene: SNORD118 were set to
Mendeliome v0.12020 SNORD118 Zornitza Stark Mode of inheritance for gene: SNORD118 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNORD118 Zornitza Stark reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 27571260; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM#614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12019 SNAP29 Zornitza Stark Marked gene: SNAP29 as ready
Mendeliome v0.12019 SNAP29 Zornitza Stark Gene: snap29 has been classified as Green List (High Evidence).
Mendeliome v0.12019 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528
Mendeliome v0.12018 SNAP29 Zornitza Stark Publications for gene: SNAP29 were set to
Mendeliome v0.12017 SNAP29 Zornitza Stark Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP29 Zornitza Stark reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, MIM#609528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.12016 SNAP25 Zornitza Stark Marked gene: SNAP25 as ready
Mendeliome v0.12016 SNAP25 Zornitza Stark Gene: snap25 has been classified as Green List (High Evidence).
Mendeliome v0.12016 SNAP25 Zornitza Stark Phenotypes for gene: SNAP25 were changed from to Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330
Mendeliome v0.12015 SNAP25 Zornitza Stark Publications for gene: SNAP25 were set to
Mendeliome v0.12014 SNAP25 Zornitza Stark Mode of inheritance for gene: SNAP25 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAP25 Zornitza Stark reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: None; Publications: 25003006, 29100083, 28135719; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SNAP25-related, Myasthenic syndrome, congenital, 18, MIM# 616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12013 SNAI2 Zornitza Stark Marked gene: SNAI2 as ready
Mendeliome v0.12013 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12013 SNAI2 Zornitza Stark Phenotypes for gene: SNAI2 were changed from to Waardenburg syndrome, type 2D, MIM# 608890; Piebaldism, MIM# 172800
Mendeliome v0.12012 SNAI2 Zornitza Stark Publications for gene: SNAI2 were set to
Mendeliome v0.12011 SNAI2 Zornitza Stark Mode of inheritance for gene: SNAI2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12010 SNAI2 Zornitza Stark Classified gene: SNAI2 as Amber List (moderate evidence)
Mendeliome v0.12010 SNAI2 Zornitza Stark Gene: snai2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.12009 SNAI2 Zornitza Stark reviewed gene: SNAI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12444107, 30936914, 12955764, 24443330; Phenotypes: Waardenburg syndrome, type 2D, MIM# 608890, Piebaldism, MIM# 172800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Clefting disorders v0.179 SMS Zornitza Stark Marked gene: SMS as ready
Clefting disorders v0.179 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Clefting disorders v0.179 SMS Zornitza Stark Phenotypes for gene: SMS were changed from MRXSSR; MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Clefting disorders v0.178 SMS Zornitza Stark Publications for gene: SMS were set to
Clefting disorders v0.177 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12009 SMS Zornitza Stark Marked gene: SMS as ready
Mendeliome v0.12009 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Marked gene: SMS as ready
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Gene: sms has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4615 SMS Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Intellectual disability syndromic and non-syndromic v0.4614 SMS Zornitza Stark Publications for gene: SMS were set to
Intellectual disability syndromic and non-syndromic v0.4613 SMS Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4612 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12009 SMS Zornitza Stark Phenotypes for gene: SMS were changed from to Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
Mendeliome v0.12008 SMS Zornitza Stark Publications for gene: SMS were set to
Mendeliome v0.12007 SMS Zornitza Stark Mode of inheritance for gene: SMS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.12006 SMS Zornitza Stark reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30237987, 34177437, 32838743, 23805436; Phenotypes: Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type, MIM# 309583, Syndromic X-linked intellectual disability Snyder type, MONDO:0010664; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4612 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101 , MIM#619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Intellectual disability syndromic and non-syndromic v0.4611 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to 29365063; 27164704; 27164704; 28051072
Intellectual disability syndromic and non-syndromic v0.4610 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Genetic Epilepsy v0.1514 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Genetic Epilepsy v0.1513 GRIN1 Zornitza Stark Publications for gene: GRIN1 were set to 29365063; 27164704
Genetic Epilepsy v0.1512 GRIN1 Zornitza Stark Mode of inheritance for gene: GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Genetic Epilepsy v0.1511 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Added comment: Note also families reported with bi-allelic LoF variants and DEE phenotype, PMIDs 34611970 and 27164704; Changed publications: 29365063, 27164704, 27164704, 28051072, 34611970; Changed phenotypes: Developmental and epileptic encephalopathy 101 , MIM#619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.12006 GRIN1 Zornitza Stark Phenotypes for gene: GRIN1 were changed from Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820 to Developmental and epileptic encephalopathy 101, MIM# 619814; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254; Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 GRIN1 Zornitza Stark edited their review of gene: GRIN1: Changed phenotypes: Developmental and epileptic encephalopathy 101, MIM# 619814, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, MIM# 614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, MIM# 617820
Mendeliome v0.12005 RPS10 Zornitza Stark Marked gene: RPS10 as ready
Mendeliome v0.12005 RPS10 Zornitza Stark Gene: rps10 has been classified as Green List (High Evidence).
Mendeliome v0.12005 RPS10 Zornitza Stark Phenotypes for gene: RPS10 were changed from to Diamond-Blackfan anaemia 9, MIM# 613308
Mendeliome v0.12004 RPS10 Zornitza Stark Publications for gene: RPS10 were set to
Mendeliome v0.12003 RPS10 Zornitza Stark Mode of inheritance for gene: RPS10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 RPS10 Zornitza Stark reviewed gene: RPS10: Rating: GREEN; Mode of pathogenicity: None; Publications: 20116044, 23718193, 25946618; Phenotypes: Diamond-Blackfan anemia 9, MIM# 613308; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.12002 ROBO3 Zornitza Stark Marked gene: ROBO3 as ready
Mendeliome v0.12002 ROBO3 Zornitza Stark Gene: robo3 has been classified as Green List (High Evidence).
Mendeliome v0.12002 ROBO3 Zornitza Stark Phenotypes for gene: ROBO3 were changed from to Gaze palsy, familial horizontal, with progressive scoliosis, 1 (MIM# 607313)
Mendeliome v0.12001 ROBO3 Zornitza Stark Publications for gene: ROBO3 were set to
Mendeliome v0.12000 ROBO3 Zornitza Stark Mode of inheritance for gene: ROBO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11999 ROBO2 Zornitza Stark Marked gene: ROBO2 as ready
Mendeliome v0.11999 ROBO2 Zornitza Stark Gene: robo2 has been classified as Green List (High Evidence).
Mendeliome v0.11999 ROBO2 Zornitza Stark Phenotypes for gene: ROBO2 were changed from to Vesicoureteral reflux 2 - MIM#610878; CAKUT
Mendeliome v0.11998 ROBO2 Zornitza Stark Publications for gene: ROBO2 were set to
Mendeliome v0.11997 ROBO2 Zornitza Stark Mode of inheritance for gene: ROBO2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 ROBO2 Zornitza Stark reviewed gene: ROBO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18235093, 19350278, 24429398, 17357069, 26026792, 29194579, 34059960; Phenotypes: Vesicoureteral reflux 2 - MIM#610878, CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11996 RNF216 Zornitza Stark Marked gene: RNF216 as ready
Mendeliome v0.11996 RNF216 Zornitza Stark Gene: rnf216 has been classified as Green List (High Evidence).
Mendeliome v0.11996 RNF216 Zornitza Stark Phenotypes for gene: RNF216 were changed from to Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Mendeliome v0.11995 RNF216 Zornitza Stark Publications for gene: RNF216 were set to
Mendeliome v0.11994 RNF216 Zornitza Stark Mode of inheritance for gene: RNF216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_Isolated v1.24 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386; post lingual progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_Isolated v1.23 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11993 ATP2B2 Zornitza Stark Marked gene: ATP2B2 as ready
Mendeliome v0.11993 ATP2B2 Zornitza Stark Gene: atp2b2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.123 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from Dominant progressive sensorineural deafness; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386 to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11993 ATP2B2 Zornitza Stark Phenotypes for gene: ATP2B2 were changed from progressive sensorineural deafness to Deafness, autosomal dominant 82, MIM# 619804; {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Deafness_IsolatedAndComplex v1.122 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to 30535804
Mendeliome v0.11992 ATP2B2 Zornitza Stark Publications for gene: ATP2B2 were set to
Deafness_IsolatedAndComplex v1.121 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Mendeliome v0.11991 ATP2B2 Zornitza Stark edited their review of gene: ATP2B2: Changed phenotypes: Deafness, autosomal dominant 82, MIM# 619804, {Deafness, autosomal recessive 12, modifier of}, MIM# 601386
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Congenital Heart Defect v0.209 TFAP2B Zornitza Stark Phenotypes for gene: TFAP2B were changed from to Char syndrome, MIM# 169100; Patent ductus arteriosus 2, MIM# 617035
Congenital Heart Defect v0.208 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to
Congenital Heart Defect v0.207 TFAP2B Zornitza Stark Mode of inheritance for gene: TFAP2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.206 TFAP2B Zornitza Stark reviewed gene: TFAP2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 11505339, 15684060, 18752453, 21643846; Phenotypes: Char syndrome, MIM# 169100, Patent ductus arteriosus 2, MIM# 617035; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11991 TFAP2B Zornitza Stark Marked gene: TFAP2B as ready
Mendeliome v0.11991 TFAP2B Zornitza Stark Gene: tfap2b has been classified as Green List (High Evidence).
Mendeliome v0.11991 TFAP2B Zornitza Stark Publications for gene: TFAP2B were set to 11505339; 15684060; 18752453; 21643846
Mendeliome v0.11990 TFAP2B Zornitza Stark changed review comment from: Well established association with syndromic and non-syndromic PDA.; to: Well established association with syndromic and non-syndromic PDA.

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

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

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

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

A de novo nonsense variant has also been reported in a case with Aicardi syndrome with infantile spasms, agenesis of the corpus callosum, and chorioretinal lacunae.
Mendeliome v0.11975 TEAD1 Zornitza Stark Classified gene: TEAD1 as Amber List (moderate evidence)
Mendeliome v0.11975 TEAD1 Zornitza Stark Gene: tead1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11974 TEAD1 Zornitza Stark Mode of inheritance for gene: TEAD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11973 TEAD1 Zornitza Stark reviewed gene: TEAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15016762, 33864784, 17689488, 30903741; Phenotypes: Sveinsson chorioretinal atrophy, MIM# 108985; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.457 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Regression v0.457 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Regression v0.457 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Regression v0.456 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Regression v0.455 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.454 TDP1 Zornitza Stark Classified gene: TDP1 as Red List (low evidence)
Regression v0.454 TDP1 Zornitza Stark Gene: tdp1 has been classified as Red List (Low Evidence).
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.123 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1; HMSN to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Regression v0.453 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: RED; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.122 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Hereditary Neuropathy - complex v0.121 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Hereditary Neuropathy - complex v0.121 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Hereditary Neuropathy - complex v0.120 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Marked gene: TDP1 as ready
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.157 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from Autosomal recessive spinocerebellar ataxia with axonal neuropathy, 607250; Spinocerebellar ataxia, autosomal recessive with axonal neuropathy to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Ataxia - adult onset v0.156 TDP1 Zornitza Stark Publications for gene: TDP1 were set to 31182267
Ataxia - adult onset v0.155 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Ataxia - adult onset v0.155 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Ataxia - adult onset v0.154 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Mendeliome v0.11973 TDP1 Zornitza Stark Tag founder tag was added to gene: TDP1.
Ataxia - adult onset v0.154 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11973 TDP1 Zornitza Stark Phenotypes for gene: TDP1 were changed from to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250
Mendeliome v0.11972 TDP1 Zornitza Stark Publications for gene: TDP1 were set to
Mendeliome v0.11971 TDP1 Zornitza Stark Mode of inheritance for gene: TDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11970 TDP1 Zornitza Stark Classified gene: TDP1 as Amber List (moderate evidence)
Mendeliome v0.11970 TDP1 Zornitza Stark Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11969 TDP1 Zornitza Stark reviewed gene: TDP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31182267, 12244316; Phenotypes: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11969 TCIRG1 Zornitza Stark Marked gene: TCIRG1 as ready
Mendeliome v0.11969 TCIRG1 Zornitza Stark Gene: tcirg1 has been classified as Green List (High Evidence).
Mendeliome v0.11969 TCIRG1 Zornitza Stark Phenotypes for gene: TCIRG1 were changed from to Osteopetrosis, autosomal recessive 1, MIM# 259700
Mendeliome v0.11968 TCIRG1 Zornitza Stark Publications for gene: TCIRG1 were set to
Mendeliome v0.11967 TCIRG1 Zornitza Stark Mode of inheritance for gene: TCIRG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCIRG1 Zornitza Stark reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 34210262, 30084437, 28816234; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11966 TCF4 Zornitza Stark Marked gene: TCF4 as ready
Mendeliome v0.11966 TCF4 Zornitza Stark Gene: tcf4 has been classified as Green List (High Evidence).
Mendeliome v0.11966 TCF4 Zornitza Stark Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome, MIM# 610954
Mendeliome v0.11965 TCF4 Zornitza Stark Publications for gene: TCF4 were set to
Mendeliome v0.11964 TCF4 Zornitza Stark Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCF4 Zornitza Stark reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 18728071, 22934316; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11963 TCAP Zornitza Stark Marked gene: TCAP as ready
Mendeliome v0.11963 TCAP Zornitza Stark Gene: tcap has been classified as Green List (High Evidence).
Mendeliome v0.11963 TCAP Zornitza Stark Phenotypes for gene: TCAP were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954
Mendeliome v0.11962 TCAP Zornitza Stark Mode of inheritance for gene: TCAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TCAP Zornitza Stark reviewed gene: TCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 7, MIM# 601954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11961 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Mendeliome v0.11961 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Mendeliome v0.11961 TBX5 Zornitza Stark Phenotypes for gene: TBX5 were changed from to Holt-Oram syndrome, MIM# 142900
Mendeliome v0.11960 TBX5 Zornitza Stark Publications for gene: TBX5 were set to
Mendeliome v0.11959 TBX5 Zornitza Stark Mode of inheritance for gene: TBX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11958 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Mendeliome v0.11958 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Mendeliome v0.11958 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from to Atrial septal defect 4, MIM# 611363
Mendeliome v0.11957 TBX20 Zornitza Stark Publications for gene: TBX20 were set to
Mendeliome v0.11956 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668378, 19762328, 33585493, 29089047; Phenotypes: Atrial septal defect 4, MIM# 611363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4610 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Intellectual disability syndromic and non-syndromic v0.4609 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Intellectual disability syndromic and non-syndromic v0.4608 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4607 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Marked gene: TBL1XR1 as ready
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Green List (High Evidence).
Mendeliome v0.11955 TBL1XR1 Zornitza Stark Phenotypes for gene: TBL1XR1 were changed from to Mental retardation, autosomal dominant 41, MIM# 616944; Pierpont syndrome, MIM# 602342
Mendeliome v0.11954 TBL1XR1 Zornitza Stark Publications for gene: TBL1XR1 were set to
Mendeliome v0.11953 TBL1XR1 Zornitza Stark Mode of inheritance for gene: TBL1XR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11952 TBL1XR1 Zornitza Stark reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26769062, 30365874, 25425123, 9450851, 23160955, 28687524, 23176139, 16007632; Phenotypes: Mental retardation, autosomal dominant 41, MIM# 616944, Pierpont syndrome, MIM# 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.13 TBL1XR1 Zornitza Stark Classified gene: TBL1XR1 as Amber List (moderate evidence)
Fetal anomalies v1.13 TBL1XR1 Zornitza Stark Gene: tbl1xr1 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Marked gene: TBCK as ready
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1511 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Genetic Epilepsy v0.1510 TBCK Zornitza Stark Publications for gene: TBCK were set to
Genetic Epilepsy v0.1509 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1508 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Marked gene: TBCK as ready
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4607 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Intellectual disability syndromic and non-syndromic v0.4606 TBCK Zornitza Stark Publications for gene: TBCK were set to
Intellectual disability syndromic and non-syndromic v0.4605 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4604 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11952 TBCK Zornitza Stark Marked gene: TBCK as ready
Mendeliome v0.11952 TBCK Zornitza Stark Gene: tbck has been classified as Green List (High Evidence).
Mendeliome v0.11952 TBCK Zornitza Stark Phenotypes for gene: TBCK were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900
Mendeliome v0.11951 TBCK Zornitza Stark Publications for gene: TBCK were set to
Mendeliome v0.11950 TBCK Zornitza Stark Mode of inheritance for gene: TBCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBCK Zornitza Stark reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27040692, 30103036, 27040691; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, MIM# 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4604 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Intellectual disability syndromic and non-syndromic v0.4603 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Intellectual disability syndromic and non-syndromic v0.4602 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4601 TBC1D23 Zornitza Stark reviewed gene: TBC1D23: Rating: GREEN; Mode of pathogenicity: None; Publications: 28823707, 28823706; Phenotypes: Pontocerebellar hypoplasia, type 11, MIM# 617695; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11949 TBC1D23 Zornitza Stark Marked gene: TBC1D23 as ready
Mendeliome v0.11949 TBC1D23 Zornitza Stark Gene: tbc1d23 has been classified as Green List (High Evidence).
Mendeliome v0.11949 TBC1D23 Zornitza Stark Phenotypes for gene: TBC1D23 were changed from to Pontocerebellar hypoplasia, type 11, MIM# 617695
Mendeliome v0.11948 TBC1D23 Zornitza Stark Publications for gene: TBC1D23 were set to
Mendeliome v0.11947 TBC1D23 Zornitza Stark Mode of inheritance for gene: TBC1D23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11946 TBC1D1 Zornitza Stark Marked gene: TBC1D1 as ready
Mendeliome v0.11946 TBC1D1 Zornitza Stark Gene: tbc1d1 has been classified as Green List (High Evidence).
Mendeliome v0.11946 TBC1D1 Zornitza Stark Phenotypes for gene: TBC1D1 were changed from to CAKUT; Non-syndromic renal or urinary tract malformation, MONDO:0019720
Mendeliome v0.11945 TBC1D1 Zornitza Stark Publications for gene: TBC1D1 were set to
Mendeliome v0.11944 TBC1D1 Zornitza Stark Mode of inheritance for gene: TBC1D1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TBC1D1 Zornitza Stark reviewed gene: TBC1D1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26572137; Phenotypes: CAKUT, Non-syndromic renal or urinary tract malformation, MONDO:0019720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11943 TAZ Zornitza Stark Marked gene: TAZ as ready
Mendeliome v0.11943 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Mendeliome v0.11943 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Mendeliome v0.11942 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAZ Zornitza Stark reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11941 TAT Zornitza Stark Phenotypes for gene: TAT were changed from Tyrosinemia, type II, MIM# 276600 to Tyrosinaemia, type II, MIM# 276600
Mendeliome v0.11940 TAT Zornitza Stark Marked gene: TAT as ready
Mendeliome v0.11940 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Mendeliome v0.11940 TAT Zornitza Stark Phenotypes for gene: TAT were changed from to Tyrosinemia, type II, MIM# 276600
Mendeliome v0.11939 TAT Zornitza Stark Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11938 TAS2R38 Zornitza Stark Marked gene: TAS2R38 as ready
Mendeliome v0.11938 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11938 TAS2R38 Zornitza Stark Phenotypes for gene: TAS2R38 were changed from to [Phenylthiocarbamide tasting] 171200
Mendeliome v0.11937 TAS2R38 Zornitza Stark Mode of inheritance for gene: TAS2R38 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11936 TAS2R38 Zornitza Stark Classified gene: TAS2R38 as Red List (low evidence)
Mendeliome v0.11936 TAS2R38 Zornitza Stark Gene: tas2r38 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R38 Zornitza Stark reviewed gene: TAS2R38: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Phenylthiocarbamide tasting] 171200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11935 TAS2R16 Zornitza Stark Marked gene: TAS2R16 as ready
Mendeliome v0.11935 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11935 TAS2R16 Zornitza Stark Phenotypes for gene: TAS2R16 were changed from to [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956
Mendeliome v0.11934 TAS2R16 Zornitza Stark Mode of inheritance for gene: TAS2R16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11933 TAS2R16 Zornitza Stark Classified gene: TAS2R16 as Red List (low evidence)
Mendeliome v0.11933 TAS2R16 Zornitza Stark Gene: tas2r16 has been classified as Red List (Low Evidence).
Mendeliome v0.11932 TAS2R16 Zornitza Stark reviewed gene: TAS2R16: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Beta-glycopyranoside tasting], (3) {Alcohol dependence, susceptibility to} 617956; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Leukodystrophy - paediatric v0.246 ACER3 Arina Puzriakova reviewed gene: ACER3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34281620; Phenotypes: Leukodystrophy, progressive, early childhood-onset, OMIM:617762; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11932 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Mendeliome v0.11932 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mendeliome v0.11932 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Mendeliome v0.11931 TANGO2 Zornitza Stark Publications for gene: TANGO2 were set to
Mendeliome v0.11930 TANGO2 Zornitza Stark Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TANGO2 Zornitza Stark reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26805782, 30245509; Phenotypes: Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11929 TACR3 Zornitza Stark Marked gene: TACR3 as ready
Mendeliome v0.11929 TACR3 Zornitza Stark Gene: tacr3 has been classified as Green List (High Evidence).
Mendeliome v0.11929 TACR3 Zornitza Stark Phenotypes for gene: TACR3 were changed from to Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840
Mendeliome v0.11928 TACR3 Zornitza Stark Publications for gene: TACR3 were set to
Mendeliome v0.11927 TACR3 Zornitza Stark Mode of inheritance for gene: TACR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TACR3 Zornitza Stark reviewed gene: TACR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20332248, 19079066; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM# 614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11926 TAC3 Zornitza Stark Marked gene: TAC3 as ready
Mendeliome v0.11926 TAC3 Zornitza Stark Gene: tac3 has been classified as Green List (High Evidence).
Mendeliome v0.11926 TAC3 Zornitza Stark Phenotypes for gene: TAC3 were changed from to Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839
Mendeliome v0.11925 TAC3 Zornitza Stark Publications for gene: TAC3 were set to
Mendeliome v0.11924 TAC3 Zornitza Stark Mode of inheritance for gene: TAC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 TAC3 Zornitza Stark reviewed gene: TAC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19079066, 20332248, 23329188, 22031817; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM# 614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11923 T Zornitza Stark Marked gene: T as ready
Mendeliome v0.11923 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11923 T Zornitza Stark Phenotypes for gene: T were changed from to Sacral agenesis with vertebral anomalies, MIM# 615709
Mendeliome v0.11922 T Zornitza Stark Publications for gene: T were set to
Mendeliome v0.11921 T Zornitza Stark Mode of inheritance for gene: T was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11920 T Zornitza Stark Classified gene: T as Red List (low evidence)
Mendeliome v0.11920 T Zornitza Stark Gene: t has been classified as Red List (Low Evidence).
Mendeliome v0.11919 T Zornitza Stark reviewed gene: T: Rating: RED; Mode of pathogenicity: None; Publications: 24253444, 28116192; Phenotypes: Sacral agenesis with vertebral anomalies 615709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11919 LAT Zornitza Stark Publications for gene: LAT were set to
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Marked gene: EPHB4 as ready
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Gene: ephb4 has been classified as Green List (High Evidence).
Hydrops fetalis v0.238 EPHB4 Zornitza Stark Phenotypes for gene: EPHB4 were changed from to Lymphatic malformation 7 (MIM#617300), AD
Hydrops fetalis v0.237 EPHB4 Zornitza Stark Publications for gene: EPHB4 were set to
Hydrops fetalis v0.236 EPHB4 Zornitza Stark Mode of inheritance for gene: EPHB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hydrops fetalis v0.235 GUSB Zornitza Stark Marked gene: GUSB as ready
Hydrops fetalis v0.235 GUSB Zornitza Stark Gene: gusb has been classified as Green List (High Evidence).
Hydrops fetalis v0.235 GUSB Zornitza Stark Phenotypes for gene: GUSB were changed from to Mucopolysaccharidosis VII, MIM# 253220; MONDO:0009662
Hydrops fetalis v0.234 GUSB Zornitza Stark Publications for gene: GUSB were set to
Hydrops fetalis v0.233 GUSB Zornitza Stark Mode of inheritance for gene: GUSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 GUSB Zornitza Stark reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34302381; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11918 TCF20 Zornitza Stark Publications for gene: TCF20 were set to 30739909; 30819258; 25228304
Mendeliome v0.11917 LAS1L Zornitza Stark Publications for gene: LAS1L were set to 25644381; 34653234; 26358559
Mendeliome v0.11916 LAS1L Zornitza Stark edited their review of gene: LAS1L: Changed rating: GREEN; Changed phenotypes: Wilson-Turner syndrome, MIM# 309585, congenital lethal motor neuron disease
Mendeliome v0.11916 LARGE1 Zornitza Stark Publications for gene: LARGE1 were set to
Mendeliome v0.11915 LARGE1 Zornitza Stark Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.175 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Polymicrogyria and Schizencephaly v0.174 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Polymicrogyria and Schizencephaly v0.173 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Polymicrogyria and Schizencephaly v0.172 LAMC3 Zornitza Stark reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11914 LAMC3 Zornitza Stark Phenotypes for gene: LAMC3 were changed from to Cortical malformations, occipital, MIM#614115
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Marked gene: LAMC3 as ready
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Classified gene: LAMC3 as Green List (high evidence)
Genetic Epilepsy v0.1508 LAMC3 Zornitza Stark Gene: lamc3 has been classified as Green List (High Evidence).
Mendeliome v0.11913 LAMC3 Zornitza Stark Publications for gene: LAMC3 were set to
Mendeliome v0.11912 LAMC3 Zornitza Stark Mode of inheritance for gene: LAMC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.177 LAMB2 Zornitza Stark Marked gene: LAMB2 as ready
Proteinuria v0.177 LAMB2 Zornitza Stark Gene: lamb2 has been classified as Green List (High Evidence).
Proteinuria v0.177 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Proteinuria v0.176 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Proteinuria v0.175 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.174 LAMB2 Zornitza Stark reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11911 LBR Alison Yeung Phenotypes for gene: LBR were changed from to Greenberg skeletal dysplasia, MIM# 215140
Mendeliome v0.11910 LBR Alison Yeung Marked gene: LBR as ready
Mendeliome v0.11910 LBR Alison Yeung Gene: lbr has been classified as Green List (High Evidence).
Mendeliome v0.11910 LBR Alison Yeung Publications for gene: LBR were set to
Mendeliome v0.11909 LBR Alison Yeung Mode of inheritance for gene: LBR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11908 LAT Alison Yeung Marked gene: LAT as ready
Mendeliome v0.11908 LAT Alison Yeung Gene: lat has been classified as Green List (High Evidence).
Mendeliome v0.11908 LAT Alison Yeung Mode of inheritance for gene: LAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11907 LAT Alison Yeung Phenotypes for gene: LAT were changed from to Immunodeficiency 52, MIM# 617514
Mendeliome v0.11906 LAT Alison Yeung reviewed gene: LAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 27522155, 27242165, 10204488; Phenotypes: Immunodeficiency 52, MIM# 617514; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Hydrops fetalis v0.232 EPHB4 Abhijit Kulkarni reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27400125, 35178555; Phenotypes: Lymphatic malformation 7 (MIM#617300), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11906 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Mendeliome v0.11905 LAMB2 Zornitza Stark Publications for gene: LAMB2 were set to
Mendeliome v0.11904 LAMB2 Zornitza Stark Mode of inheritance for gene: LAMB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Marked gene: SMPD1 as ready
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Gene: smpd1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.232 SMPD1 Zornitza Stark Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease, type A, MIM# 257200; MONDO:0009756
Hydrops fetalis v0.231 SMPD1 Zornitza Stark Publications for gene: SMPD1 were set to
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Marked gene: L1CAM as ready
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Gene: l1cam has been classified as Green List (High Evidence).
Hydrocephalus_Ventriculomegaly v0.115 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
Hydrops fetalis v0.230 SMPD1 Zornitza Stark Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Zornitza Stark reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27928775; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11903 L1CAM Zornitza Stark Phenotypes for gene: L1CAM were changed from Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140 to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140; Corpus callosum, partial agenesis of, MIM# 304100
Mendeliome v0.11902 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, Corpus callosum, partial agenesis of, MIM# 304100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.114 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Hydrocephalus_Ventriculomegaly v0.113 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Hydrocephalus_Ventriculomegaly v0.112 L1CAM Zornitza Stark reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350, L1 syndrome, MONDO:0017140; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11902 L1CAM Zornitza Stark Publications for gene: L1CAM were set to
Mendeliome v0.11901 L1CAM Zornitza Stark Mode of inheritance for gene: L1CAM was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1507 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
Genetic Epilepsy v0.1506 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Genetic Epilepsy v0.1505 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11900 NPRL3 Zornitza Stark Marked gene: NPRL3 as ready
Mendeliome v0.11900 NPRL3 Zornitza Stark Gene: nprl3 has been classified as Green List (High Evidence).
Mendeliome v0.11900 NPRL3 Zornitza Stark Phenotypes for gene: NPRL3 were changed from to Epilepsy, familial focal, with variable foci 3- MIM#617118
Mendeliome v0.11899 NPRL3 Zornitza Stark Publications for gene: NPRL3 were set to
Hydrops fetalis v0.229 GUSB Abhijit Kulkarni reviewed gene: GUSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30442200; Phenotypes: Mucopolysaccharidosis VII, MIM# 253220, MONDO:0009662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11898 NPRL3 Zornitza Stark Mode of inheritance for gene: NPRL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11897 NPPC Zornitza Stark Marked gene: NPPC as ready
Mendeliome v0.11897 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Mendeliome v0.11897 NPPC Zornitza Stark Phenotypes for gene: NPPC were changed from to short stature and non-specific skeletal anomalies - MONDO#0014551
Mendeliome v0.11896 NPPC Zornitza Stark Publications for gene: NPPC were set to
Mendeliome v0.11895 NPPC Zornitza Stark Mode of inheritance for gene: NPPC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11894 NPPC Zornitza Stark Classified gene: NPPC as Red List (low evidence)
Mendeliome v0.11894 NPPC Zornitza Stark Gene: nppc has been classified as Red List (Low Evidence).
Cholestasis v0.225 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Cholestasis v0.225 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Cholestasis v0.225 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205)
Cholestasis v0.224 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Cholestasis v0.223 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Zornitza Stark reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alagille syndrome 2 (MIM#610205); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.78 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500) to Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.77 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Osteogenesis Imperfecta and Osteoporosis v0.76 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Osteogenesis Imperfecta and Osteoporosis v0.75 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.206 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Congenital Heart Defect v0.205 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Congenital Heart Defect v0.204 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.112 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.111 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.110 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11893 NOTCH2 Zornitza Stark Marked gene: NOTCH2 as ready
Mendeliome v0.11893 NOTCH2 Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence).
Mendeliome v0.11893 NOTCH2 Zornitza Stark Phenotypes for gene: NOTCH2 were changed from to Alagille syndrome 2 (MIM#610205); Hajdu-Cheney syndrome (MIM#102500)
Mendeliome v0.11892 NOTCH2 Zornitza Stark Publications for gene: NOTCH2 were set to
Mendeliome v0.11891 NOTCH2 Zornitza Stark Mode of inheritance for gene: NOTCH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11890 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Mendeliome v0.11890 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Mendeliome v0.11890 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
Mendeliome v0.11889 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Mendeliome v0.11888 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Marked gene: NOTCH1 as ready
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Gene: notch1 has been classified as Green List (High Evidence).
Congenital Heart Defect v0.203 NOTCH1 Zornitza Stark Phenotypes for gene: NOTCH1 were changed from to Adams-Oliver syndrome 5 (MIM#616028)
Congenital Heart Defect v0.202 NOTCH1 Zornitza Stark Publications for gene: NOTCH1 were set to
Congenital Heart Defect v0.201 NOTCH1 Zornitza Stark Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11887 NONO Zornitza Stark Marked gene: NONO as ready
Mendeliome v0.11887 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Mendeliome v0.11887 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Mendeliome v0.11886 NONO Zornitza Stark Publications for gene: NONO were set to
Mendeliome v0.11885 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Marked gene: NONO as ready
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4601 NONO Zornitza Stark Phenotypes for gene: NONO were changed from to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Intellectual disability syndromic and non-syndromic v0.4600 NONO Zornitza Stark Publications for gene: NONO were set to
Intellectual disability syndromic and non-syndromic v0.4599 NONO Zornitza Stark Mode of inheritance for gene: NONO was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.425 NONO Zornitza Stark Marked gene: NONO as ready
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Callosome v0.425 NONO Zornitza Stark Classified gene: NONO as Green List (high evidence)
Callosome v0.425 NONO Zornitza Stark Gene: nono has been classified as Green List (High Evidence).
Regression v0.453 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Regression v0.453 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Regression v0.453 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 - MIM#614937
Regression v0.452 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.452 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Regression v0.451 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.450 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Regression v0.450 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11884 NOL3 Zornitza Stark Marked gene: NOL3 as ready
Mendeliome v0.11884 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11884 NOL3 Zornitza Stark Phenotypes for gene: NOL3 were changed from to Myoclonus, familial, 1 MIM#614937
Mendeliome v0.11883 NOL3 Zornitza Stark Publications for gene: NOL3 were set to
Mendeliome v0.11882 NOL3 Zornitza Stark Mode of inheritance for gene: NOL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11881 NOL3 Zornitza Stark Classified gene: NOL3 as Red List (low evidence)
Mendeliome v0.11881 NOL3 Zornitza Stark Gene: nol3 has been classified as Red List (Low Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Marked gene: NOG as ready
Mendeliome v0.11880 NOG Zornitza Stark Gene: nog has been classified as Green List (High Evidence).
Mendeliome v0.11880 NOG Zornitza Stark Phenotypes for gene: NOG were changed from to Brachydactyly, type B2 - MIM#611377; Multiple synostoses syndrome 1 (MIM#186500); Stapes ankylosis with broad thumbs and toes (MIM#184460); Symphalangism, proximal, 1A (MIM#185800); Tarsal-carpal coalition syndrome (MIM#186570)
Mendeliome v0.11879 NOG Zornitza Stark Publications for gene: NOG were set to
Mendeliome v0.11878 NOG Zornitza Stark Mode of inheritance for gene: NOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11877 NNT Zornitza Stark Marked gene: NNT as ready
Mendeliome v0.11877 NNT Zornitza Stark Gene: nnt has been classified as Green List (High Evidence).
Mendeliome v0.11877 NNT Zornitza Stark Phenotypes for gene: NNT were changed from to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736
Mendeliome v0.11876 NNT Zornitza Stark Publications for gene: NNT were set to
Mendeliome v0.11875 NNT Zornitza Stark Mode of inheritance for gene: NNT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11874 NLRP7 Zornitza Stark Marked gene: NLRP7 as ready
Mendeliome v0.11874 NLRP7 Zornitza Stark Gene: nlrp7 has been classified as Green List (High Evidence).
Mendeliome v0.11874 NLRP7 Zornitza Stark Phenotypes for gene: NLRP7 were changed from to Hydatidiform mole, recurrent, 1 - MIM#231090
Mendeliome v0.11873 NLRP7 Zornitza Stark Publications for gene: NLRP7 were set to
Mendeliome v0.11872 NLRP7 Zornitza Stark Mode of inheritance for gene: NLRP7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.56 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Vasculitis v0.56 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Vasculitis v0.56 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Vasculitis v0.55 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Vasculitis v0.54 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.53 NLRP12 Zornitza Stark reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11871 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Mendeliome v0.11871 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Mendeliome v0.11871 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Mendeliome v0.11870 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Mendeliome v0.11869 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Marked gene: NLRP12 as ready
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Gene: nlrp12 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.140 NLRP12 Zornitza Stark Phenotypes for gene: NLRP12 were changed from to Familial cold autoinflammatory syndrome 2 - MIM#611762
Autoinflammatory Disorders v0.139 NLRP12 Zornitza Stark Publications for gene: NLRP12 were set to
Autoinflammatory Disorders v0.138 NLRP12 Zornitza Stark Mode of inheritance for gene: NLRP12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11868 TCF20 Elena Savva reviewed gene: TCF20: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 34904221, 30739909, 30819258, 25228304; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities MIM#618430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Marked gene: POU3F3 as ready
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Classified gene: POU3F3 as Amber List (moderate evidence)
Genetic Epilepsy v0.1504 POU3F3 Zornitza Stark Gene: pou3f3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4598 LAS1L Alison Yeung Classified gene: LAS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4598 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4597 LAS1L Alison Yeung Publications for gene: LAS1L were set to 25644381; 26358559
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Classified gene: LAS1L as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Added comment: Comment on list classification: Additional patient reported in literature
Intellectual disability syndromic and non-syndromic v0.4596 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Mendeliome v0.11868 LAS1L Alison Yeung Marked gene: LAS1L as ready
Mendeliome v0.11868 LAS1L Alison Yeung Gene: las1l has been classified as Green List (High Evidence).
Mendeliome v0.11868 LAS1L Alison Yeung Publications for gene: LAS1L were set to
Mendeliome v0.11867 LAS1L Alison Yeung Mode of inheritance for gene: LAS1L was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11866 LAS1L Alison Yeung Phenotypes for gene: LAS1L were changed from to Wilson-Turner syndrome, MIM# 309585
Mendeliome v0.11865 LAS1L Alison Yeung edited their review of gene: LAS1L: Changed publications: 25644381, 34653234, 26358559
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung changed review comment from: 3 unrelated individuals reported; to: 3 unrelated individuals reported
Mendeliome v0.11865 LAS1L Alison Yeung reviewed gene: LAS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 25644381, 34653234, 25644381; Phenotypes: Wilson-Turner syndrome, MIM# 309585; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11865 LARGE1 Alison Yeung Phenotypes for gene: LARGE1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6, MIM# 613154; Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840
Mendeliome v0.11864 LARGE1 Alison Yeung Marked gene: LARGE1 as ready
Mendeliome v0.11864 LARGE1 Alison Yeung Gene: large1 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LARGE1 Alison Yeung reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12966029, 19067344, 17436019, 21248746; Phenotypes: Muscular dystrophy-dystroglycanopathy type A6, MIM# 613154, Muscular dystrophy-dystroglycanopathy type B6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMC3 Alison Yeung Marked gene: LAMC3 as ready
Mendeliome v0.11864 LAMC3 Alison Yeung Gene: lamc3 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMC3 Alison Yeung reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 34354730; Phenotypes: Cortical malformations, occipital, MIM#614115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11864 LAMB2 Alison Yeung Marked gene: LAMB2 as ready
Mendeliome v0.11864 LAMB2 Alison Yeung Gene: lamb2 has been classified as Green List (High Evidence).
Mendeliome v0.11864 LAMB2 Alison Yeung changed review comment from: Pierson syndrome (PIERS) is an autosomal recessive disorder comprising congenital nephrotic syndrome with diffuse mesangial sclerosis and distinct ocular abnormalities, including microcoria and hypoplasia of the ciliary and pupillary muscles, as well as other anomalies. Many patients die early, and those who survive tend to show neurodevelopmental delay and visual loss.

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

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

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

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

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

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

The two disorders are likely part of a spectrum. More than 5 unrelated families reported.
Mendeliome v0.11864 LAMB2 Alison Yeung reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM# 609049, Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.229 SMPD1 Abhijit Kulkarni reviewed gene: SMPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33082562; Phenotypes: Niemann-Pick disease, type A, MIM# 257200, MONDO:0009756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11864 L1CAM Alison Yeung Marked gene: L1CAM as ready
Mendeliome v0.11864 L1CAM Alison Yeung Gene: l1cam has been classified as Green List (High Evidence).
Mendeliome v0.11864 L1CAM Alison Yeung Phenotypes for gene: L1CAM were changed from to Hydrocephalus due to aqueductal stenosis, MIM# 307000; MASA syndrome, MIM# 303350; L1 syndrome, MONDO:0017140
Mendeliome v0.11863 L1CAM Alison Yeung reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438988, 7920660, 8401593, 19565280; Phenotypes: Hydrocephalus due to aqueductal stenosis, MIM# 307000, MASA syndrome, MIM# 303350; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mendeliome v0.11863 TRIM63 Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11862 TRIM63 Zornitza Stark edited their review of gene: TRIM63: Changed rating: GREEN; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.162 TRIM63 Zornitza Stark Phenotypes for gene: TRIM63 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11862 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Mendeliome v0.11861 MYOM1 Zornitza Stark Classified gene: MYOM1 as Red List (low evidence)
Mendeliome v0.11861 MYOM1 Zornitza Stark Gene: myom1 has been classified as Red List (Low Evidence).
Mendeliome v0.11860 MYOM1 Zornitza Stark edited their review of gene: MYOM1: Changed rating: RED; Changed phenotypes: Hypertrophic cardiomyopathy, MONDO:0005045
Hypertrophic cardiomyopathy_HCM v0.161 MYOM1 Zornitza Stark Phenotypes for gene: MYOM1 were changed from Hypertrophic cardiomyopathy to Hypertrophic cardiomyopathy, MONDO:0005045
Genetic Epilepsy v0.1503 NPRL3 Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NPRL3 Krithika Murali reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 3- MIM#617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NPPC Krithika Murali reviewed gene: NPPC: Rating: RED; Mode of pathogenicity: None; Publications: 28661490, 32528716; Phenotypes: short stature and non-specific skeletal anomalies - MONDO#0014551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cholestasis v0.222 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteogenesis Imperfecta and Osteoporosis v0.74 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.200 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH2 Krithika Murali reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16773578, 21378985, 21378989; Phenotypes: Alagille syndrome 2 (MIM#610205), Hajdu-Cheney syndrome (MIM#102500); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOTCH1 Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.200 NOTCH1 Krithika Murali reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25963545, 25132448; Phenotypes: Adams-Oliver syndrome 5 (MIM#616028); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NONO Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4595 NONO Krithika Murali reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: None; Publications: 26571461, 27329731, 27550220; Phenotypes: Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Callosome v0.424 NONO Krithika Murali gene: NONO was added
gene: NONO was added to Callosome. Sources: Literature
Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: NONO were set to 26571461; 27329731; 27550220
Phenotypes for gene: NONO were set to Intellectual developmental disorder, X-linked syndromic 34 - MIM#300967
Review for gene: NONO was set to GREEN
Added comment: Syndromic ID with associated features reported including corpus callosum and cardiac anomalies.
Sources: Literature
Regression v0.449 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: 22926851; Phenotypes: ?Myoclonus, familial, 1 - MIM#614937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NOL3 Krithika Murali reviewed gene: NOL3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Marked gene: ZNF423 as ready
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.190 ZNF423 Zornitza Stark Phenotypes for gene: ZNF423 were changed from to Joubert syndrome 19 (MIM#614844)
Syndromic Retinopathy v0.189 ZNF423 Zornitza Stark Publications for gene: ZNF423 were set to
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Classified gene: ZNF423 as Red List (low evidence)
Syndromic Retinopathy v0.188 ZNF423 Zornitza Stark Gene: znf423 has been classified as Red List (Low Evidence).
Syndromic Retinopathy v0.187 ZNF423 Zornitza Stark reviewed gene: ZNF423: Rating: RED; Mode of pathogenicity: None; Publications: 22863007, 33531950; Phenotypes: Joubert syndrome 19 (MIM#614844); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11860 NOG Krithika Murali reviewed gene: NOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11846737, 18440889, 12089654, 10080184, 15066478, 22088931, 17381491; Phenotypes: Brachydactyly, type B2 - MIM#611377, Multiple synostoses syndrome 1 (MIM#186500), Stapes ankylosis with broad thumbs and toes (MIM#184460), Symphalangism, proximal, 1A (MIM#185800), Tarsal-carpal coalition syndrome (MIM#186570); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 NNT Krithika Murali reviewed gene: NNT: Rating: GREEN; Mode of pathogenicity: None; Publications: 22634753, 23474776, 25879317, 26070314, 27129361; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency - MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP7 Krithika Murali reviewed gene: NLRP7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23201303, 23125094, 25097207, 26606510, 19650864, 23880596, 22770628, 26544189, 28428943, 21623199, 21439709, 33583041, 32055942, 19246479, 19066229, 34189227; Phenotypes: Hydatidiform mole, recurrent, 1 - MIM#231090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11860 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.53 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRP12 Krithika Murali reviewed gene: NLRP12: Rating: GREEN; Mode of pathogenicity: None; Publications: 18230725, 21360512, 24064030, 27633793; Phenotypes: Familial cold autoinflammatory syndrome 2 - MIM#611762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4595 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Intellectual disability syndromic and non-syndromic v0.4594 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Intellectual disability syndromic and non-syndromic v0.4593 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4592 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11860 STAG1 Zornitza Stark Marked gene: STAG1 as ready
Mendeliome v0.11860 STAG1 Zornitza Stark Gene: stag1 has been classified as Green List (High Evidence).
Mendeliome v0.11860 STAG1 Zornitza Stark Phenotypes for gene: STAG1 were changed from to Mental retardation, autosomal dominant 47, MIM# 617635
Mendeliome v0.11859 STAG1 Zornitza Stark Publications for gene: STAG1 were set to
Mendeliome v0.11858 STAG1 Zornitza Stark Mode of inheritance for gene: STAG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11857 STAG1 Zornitza Stark reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28119487, 34440290; Phenotypes: Mental retardation, autosomal dominant 47, MIM# 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.245 STAR Zornitza Stark Marked gene: STAR as ready
Differences of Sex Development v0.245 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Differences of Sex Development v0.245 STAR Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
Differences of Sex Development v0.244 STAR Zornitza Stark Publications for gene: STAR were set to
Differences of Sex Development v0.243 STAR Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Differences of Sex Development v0.242 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11857 STAR Zornitza Stark Marked gene: STAR as ready
Mendeliome v0.11857 STAR Zornitza Stark Gene: star has been classified as Green List (High Evidence).
Mendeliome v0.11857 STAR Zornitza Stark Phenotypes for gene: STAR were changed from to Lipoid adrenal hyperplasia (MIM#201710)
Mendeliome v0.11856 STAR Zornitza Stark Publications for gene: STAR were set to
Mendeliome v0.11855 STAR Zornitza Stark Mode of inheritance for gene: STAR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAR Zornitza Stark reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 7892608, 8634702; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11854 STAT1 Zornitza Stark Marked gene: STAT1 as ready
Mendeliome v0.11854 STAT1 Zornitza Stark Gene: stat1 has been classified as Green List (High Evidence).
Mendeliome v0.11854 STAT1 Zornitza Stark Phenotypes for gene: STAT1 were changed from to Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796; Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162
Mendeliome v0.11853 STAT1 Zornitza Stark Publications for gene: STAT1 were set to
Mendeliome v0.11852 STAT1 Zornitza Stark Mode of inheritance for gene: STAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT1 Zornitza Stark reviewed gene: STAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16934001, 22573496, 26513235, 12590259, 16585605, 20841510, 21714643, 21727188; Phenotypes: Immunodeficiency 31A, mycobacteriosis, autosomal dominant, MIM# 614892, Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, MIM# 613796, Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant, MIM# 614162; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11851 STAT2 Zornitza Stark Marked gene: STAT2 as ready
Mendeliome v0.11851 STAT2 Zornitza Stark Gene: stat2 has been classified as Green List (High Evidence).
Mendeliome v0.11851 STAT2 Zornitza Stark Phenotypes for gene: STAT2 were changed from to Immunodeficiency 44, MIM# 616636; Pseudo-TORCH syndrome 3, MIM# 618886
Mendeliome v0.11850 STAT2 Zornitza Stark Publications for gene: STAT2 were set to
Mendeliome v0.11849 STAT2 Zornitza Stark Mode of inheritance for gene: STAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STAT2 Zornitza Stark reviewed gene: STAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23391734, 26122121, 31836668, 32092142; Phenotypes: Immunodeficiency 44, MIM# 616636, Pseudo-TORCH syndrome 3, MIM# 618886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11848 STS Zornitza Stark Marked gene: STS as ready
Mendeliome v0.11848 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Mendeliome v0.11848 STS Zornitza Stark Phenotypes for gene: STS were changed from to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Mendeliome v0.11847 STS Zornitza Stark Mode of inheritance for gene: STS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11846 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Mendeliome v0.11846 STUB1 Zornitza Stark Marked gene: STUB1 as ready
Mendeliome v0.11846 STUB1 Zornitza Stark Gene: stub1 has been classified as Green List (High Evidence).
Mendeliome v0.11846 STUB1 Zornitza Stark Phenotypes for gene: STUB1 were changed from to Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768; Spinocerebellar ataxia 48, MIM#618093
Mendeliome v0.11845 STUB1 Zornitza Stark Publications for gene: STUB1 were set to
Mendeliome v0.11844 STUB1 Zornitza Stark Mode of inheritance for gene: STUB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11843 STUB1 Zornitza Stark changed review comment from: Onset is typically in adolescence but onset in childhood also reported.
Sources: Expert list; to: Multiple families reported with mono-allelic and bi-allelic disease, variable age of onset.
Sources: Expert list
Mendeliome v0.11843 STUB1 Zornitza Stark edited their review of gene: STUB1: Changed publications: 25258038, 24742043, 32337344, 30381368, 31126790; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768, Spinocerebellar ataxia 48, MIM#618093; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Marked gene: STX11 as ready
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.115 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Disorders of immune dysregulation v0.114 STX11 Zornitza Stark Publications for gene: STX11 were set to
Disorders of immune dysregulation v0.113 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.112 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11843 STX11 Zornitza Stark Marked gene: STX11 as ready
Mendeliome v0.11843 STX11 Zornitza Stark Gene: stx11 has been classified as Green List (High Evidence).
Mendeliome v0.11843 STX11 Zornitza Stark Phenotypes for gene: STX11 were changed from to Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11842 STX11 Zornitza Stark Publications for gene: STX11 were set to
Mendeliome v0.11841 STX11 Zornitza Stark Mode of inheritance for gene: STX11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11840 STX11 Zornitza Stark edited their review of gene: STX11: Changed phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552
Mendeliome v0.11840 STX11 Zornitza Stark reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: 15703195, 16278825, 16582076, 24459464; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Marked gene: NFIA as ready
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11840 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Mendeliome v0.11840 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Mendeliome v0.11840 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Mendeliome v0.11839 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Mendeliome v0.11838 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Marked gene: NLRC4 as ready
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Gene: nlrc4 has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.137 NLRC4 Zornitza Stark Phenotypes for gene: NLRC4 were changed from to Familial cold autoinflammatory syndrome 4 - MIM#616115; Autoinflammation with infantile enterocolitis - MIM#616050
Autoinflammatory Disorders v0.136 NLRC4 Zornitza Stark Publications for gene: NLRC4 were set to
Autoinflammatory Disorders v0.135 NLRC4 Zornitza Stark Mode of inheritance for gene: NLRC4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.180 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4592 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4591 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Intellectual disability syndromic and non-syndromic v0.4590 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v0.11837 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11836 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Mendeliome v0.11836 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Mendeliome v0.11836 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Mendeliome v0.11835 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.179 NLGN3 Zornitza Stark Marked gene: NLGN3 as ready
Autism v0.179 NLGN3 Zornitza Stark Gene: nlgn3 has been classified as Green List (High Evidence).
Autism v0.179 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425 to X-linked complex neurodevelopmental disorder MONDO:0100148; {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Mendeliome v0.11834 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.134 NLRC4 Krithika Murali reviewed gene: NLRC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25217959, 25385754, 25217960; Phenotypes: ?Familial cold autoinflammatory syndrome 4 - MIM#616115, Autoinflammation with infantile enterocolitis - MIM#616050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autism v0.178 NLGN3 Zornitza Stark Phenotypes for gene: NLGN3 were changed from to {Asperger syndrome susceptibility, X-linked 1} - MIM#300494; {Autism susceptibility, X-linked 1} - MIM#300425
Autism v0.177 NLGN3 Zornitza Stark Publications for gene: NLGN3 were set to
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Autism v0.176 NLGN3 Zornitza Stark Mode of inheritance for gene: NLGN3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11834 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Mendeliome v0.11834 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Mendeliome v0.11834 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330
Mendeliome v0.11833 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Mendeliome v0.11832 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Marked gene: NKX3-2 as ready
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Gene: nkx3-2 has been classified as Green List (High Evidence).
Skeletal Dysplasia_Fetal v0.62 NKX3-2 Zornitza Stark Phenotypes for gene: NKX3-2 were changed from to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
Skeletal Dysplasia_Fetal v0.61 NKX3-2 Zornitza Stark Publications for gene: NKX3-2 were set to
Skeletal Dysplasia_Fetal v0.60 NKX3-2 Zornitza Stark Mode of inheritance for gene: NKX3-2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11831 NIPAL4 Zornitza Stark Marked gene: NIPAL4 as ready
Mendeliome v0.11831 NIPAL4 Zornitza Stark Gene: nipal4 has been classified as Green List (High Evidence).
Mendeliome v0.11831 NIPAL4 Zornitza Stark Phenotypes for gene: NIPAL4 were changed from to Ichthyosis, congenital, autosomal recessive 6 - MIM#612281
Mendeliome v0.11830 NIPAL4 Zornitza Stark Publications for gene: NIPAL4 were set to
Mendeliome v0.11829 NIPAL4 Zornitza Stark Mode of inheritance for gene: NIPAL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Marked gene: NHS as ready
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4589 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
Intellectual disability syndromic and non-syndromic v0.4588 NHS Zornitza Stark Publications for gene: NHS were set to
Intellectual disability syndromic and non-syndromic v0.4587 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11828 NHS Zornitza Stark Marked gene: NHS as ready
Mendeliome v0.11828 NHS Zornitza Stark Gene: nhs has been classified as Green List (High Evidence).
Mendeliome v0.11828 NHS Zornitza Stark Phenotypes for gene: NHS were changed from to Nance-Horan syndrome - MIM#302350; Cataract 40, X-linked - MIM#302200
Mendeliome v0.11827 NHS Zornitza Stark Publications for gene: NHS were set to
Mendeliome v0.11826 NHS Zornitza Stark Mode of inheritance for gene: NHS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Marked gene: NFKBIL1 as ready
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Mendeliome v0.11825 NFKBIL1 Zornitza Stark Phenotypes for gene: NFKBIL1 were changed from to {Rheumatoid arthritis, susceptibility to} - MIM#180300
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Classified gene: NFKBIL1 as Red List (low evidence)
Mendeliome v0.11824 NFKBIL1 Zornitza Stark Gene: nfkbil1 has been classified as Red List (Low Evidence).
Callosome v0.424 NFIA Zornitza Stark Marked gene: NFIA as ready
Callosome v0.424 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Callosome v0.424 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Callosome v0.423 NFIA Zornitza Stark Publications for gene: NFIA were set to
Callosome v0.422 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11823 NFIA Zornitza Stark Marked gene: NFIA as ready
Mendeliome v0.11823 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11823 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Mendeliome v0.11822 NFIA Zornitza Stark Publications for gene: NFIA were set to
Mendeliome v0.11821 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Classified gene: NFIA as Green List (high evidence)
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.109 NFIA Zornitza Stark Gene: nfia has been classified as Green List (High Evidence).
Mendeliome v0.11820 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.108 NFIA Zornitza Stark gene: NFIA was added
gene: NFIA was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert Review
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 35018717; 33973697; 32926563
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects - MIM#613735
Review for gene: NFIA was set to GREEN
Added comment: Haploinsufficiency of the NFIA gene causes NFIA-related disorder, which includes brain abnormalities and intellectual disability, with or without urinary tract defects.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4586 NFIA Zornitza Stark Phenotypes for gene: NFIA were changed from to Brain malformations with or without urinary tract defects - MIM#613735
Intellectual disability syndromic and non-syndromic v0.4585 NFIA Zornitza Stark Publications for gene: NFIA were set to
Intellectual disability syndromic and non-syndromic v0.4584 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4584 NFIA Zornitza Stark Mode of inheritance for gene: NFIA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11819 NEXN Zornitza Stark Marked gene: NEXN as ready
Mendeliome v0.11819 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Mendeliome v0.11819 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Mendeliome v0.11818 NEXN Zornitza Stark Publications for gene: NEXN were set to
Mendeliome v0.11817 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.421 NEXN Zornitza Stark Marked gene: NEXN as ready
Callosome v0.421 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Callosome v0.421 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Callosome v0.420 NEXN Zornitza Stark Publications for gene: NEXN were set to
Callosome v0.419 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.418 NEXN Zornitza Stark Classified gene: NEXN as Red List (low evidence)
Callosome v0.418 NEXN Zornitza Stark Gene: nexn has been classified as Red List (Low Evidence).
Fetal anomalies v1.12 NEXN Zornitza Stark Marked gene: NEXN as ready
Fetal anomalies v1.12 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Fetal anomalies v1.12 NEXN Zornitza Stark Classified gene: NEXN as Green List (high evidence)
Fetal anomalies v1.12 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.229 NEXN Zornitza Stark Marked gene: NEXN as ready
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Hydrops fetalis v0.229 NEXN Zornitza Stark Classified gene: NEXN as Green List (high evidence)
Hydrops fetalis v0.229 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Marked gene: STX1B as ready
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4583 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Intellectual disability syndromic and non-syndromic v0.4582 STX1B Zornitza Stark Publications for gene: STX1B were set to
Intellectual disability syndromic and non-syndromic v0.4581 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4580 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Marked gene: STX1B as ready
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1503 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Genetic Epilepsy v0.1502 STX1B Zornitza Stark Publications for gene: STX1B were set to
Genetic Epilepsy v0.1501 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1500 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11816 STX1B Zornitza Stark edited their review of gene: STX1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11816 STX1B Zornitza Stark Marked gene: STX1B as ready
Mendeliome v0.11816 STX1B Zornitza Stark Gene: stx1b has been classified as Green List (High Evidence).
Mendeliome v0.11816 STX1B Zornitza Stark Phenotypes for gene: STX1B were changed from to Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172
Mendeliome v0.11815 STX1B Zornitza Stark Publications for gene: STX1B were set to
Mendeliome v0.11814 STX1B Zornitza Stark Mode of inheritance for gene: STX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11813 STX1B Zornitza Stark reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 25362483, 33677401; Phenotypes: Generalized epilepsy with febrile seizures plus, type 9, MIM# 616172; Mode of inheritance: None
Mendeliome v0.11813 STX2 Zornitza Stark Marked gene: STX2 as ready
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11813 STX2 Zornitza Stark Classified gene: STX2 as Red List (low evidence)
Mendeliome v0.11813 STX2 Zornitza Stark Gene: stx2 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX2 Zornitza Stark reviewed gene: STX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11812 STX4 Zornitza Stark Marked gene: STX4 as ready
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11812 STX4 Zornitza Stark Classified gene: STX4 as Red List (low evidence)
Mendeliome v0.11812 STX4 Zornitza Stark Gene: stx4 has been classified as Red List (Low Evidence).
Mendeliome v0.11811 STX4 Zornitza Stark reviewed gene: STX4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11811 STXBP2 Zornitza Stark Marked gene: STXBP2 as ready
Mendeliome v0.11811 STXBP2 Zornitza Stark Gene: stxbp2 has been classified as Green List (High Evidence).
Mendeliome v0.11811 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101
Mendeliome v0.11810 STXBP2 Zornitza Stark Publications for gene: STXBP2 were set to
Mendeliome v0.11809 STXBP2 Zornitza Stark Mode of inheritance for gene: STXBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 STXBP2 Zornitza Stark reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19804848; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11808 SULT2B1 Zornitza Stark Marked gene: SULT2B1 as ready
Mendeliome v0.11808 SULT2B1 Zornitza Stark Gene: sult2b1 has been classified as Green List (High Evidence).
Mendeliome v0.11808 SULT2B1 Zornitza Stark Phenotypes for gene: SULT2B1 were changed from to Ichthyosis, congenital, autosomal recessive 14, MIM# 617571
Mendeliome v0.11807 SULT2B1 Zornitza Stark Publications for gene: SULT2B1 were set to
Mendeliome v0.11806 SULT2B1 Zornitza Stark Mode of inheritance for gene: SULT2B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SULT2B1 Zornitza Stark reviewed gene: SULT2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28575648; Phenotypes: Ichthyosis, congenital, autosomal recessive 14, MIM# 617571; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11805 SUMF1 Zornitza Stark Marked gene: SUMF1 as ready
Mendeliome v0.11805 SUMF1 Zornitza Stark Gene: sumf1 has been classified as Green List (High Evidence).
Mendeliome v0.11805 SUMF1 Zornitza Stark Phenotypes for gene: SUMF1 were changed from to Multiple sulfatase deficiency (MIM#272200)
Mendeliome v0.11804 SUMF1 Zornitza Stark Publications for gene: SUMF1 were set to
Mendeliome v0.11803 SUMF1 Zornitza Stark Mode of inheritance for gene: SUMF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMF1 Zornitza Stark reviewed gene: SUMF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17360554, 25885655, 28566233; Phenotypes: Multiple sulfatase deficiency (MIM#272200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11802 SUMO4 Zornitza Stark Marked gene: SUMO4 as ready
Mendeliome v0.11802 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11802 SUMO4 Zornitza Stark Phenotypes for gene: SUMO4 were changed from to {Diabetes mellitus, insulin-dependent, 5} 600320
Mendeliome v0.11801 SUMO4 Zornitza Stark Publications for gene: SUMO4 were set to
Mendeliome v0.11800 SUMO4 Zornitza Stark Mode of inheritance for gene: SUMO4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11799 SUMO4 Zornitza Stark Classified gene: SUMO4 as Red List (low evidence)
Mendeliome v0.11799 SUMO4 Zornitza Stark Gene: sumo4 has been classified as Red List (Low Evidence).
Mendeliome v0.11798 SUMO4 Zornitza Stark reviewed gene: SUMO4: Rating: RED; Mode of pathogenicity: None; Publications: 15123604; Phenotypes: {Diabetes mellitus, insulin-dependent, 5} 600320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11798 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Mendeliome v0.11798 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Mendeliome v0.11798 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Mendeliome v0.11797 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Mendeliome v0.11796 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SURF1 Zornitza Stark changed review comment from: Well established gene-disease association.; to: Well established gene-disease association with mitochondrial disease.
Mendeliome v0.11795 SURF1 Zornitza Stark reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843204, 9837813; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11795 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Mendeliome v0.11795 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Mendeliome v0.11795 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Marked gene: SUZ12 as ready
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Gene: suz12 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.107 SUZ12 Zornitza Stark Phenotypes for gene: SUZ12 were changed from to Imagawa-Matsumoto syndrome, MIM# 618786
Macrocephaly_Megalencephaly v0.106 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Macrocephaly_Megalencephaly v0.105 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Macrocephaly_Megalencephaly v0.104 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11794 SUZ12 Zornitza Stark Publications for gene: SUZ12 were set to
Macrocephaly_Megalencephaly v0.103 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11793 SUZ12 Zornitza Stark Mode of inheritance for gene: SUZ12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 SUZ12 Zornitza Stark changed review comment from: More than 10 unrelated individuals reported.; to: More than 10 unrelated individuals reported, ID and overgrowth.
Mendeliome v0.11792 SUZ12 Zornitza Stark reviewed gene: SUZ12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31736240, 28229514; Phenotypes: Imagawa-Matsumoto syndrome, MIM# 618786; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: ; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability syndromic and non-syndromic v0.4580 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Autism v0.175 NLGN3 Krithika Murali reviewed gene: NLGN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28584888, 12669065, 25167861; Phenotypes: {Asperger syndrome susceptibility, X-linked 1} - MIM#300494, {Autism susceptibility, X-linked 1} - MIM#300425; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4580 KCND3 Elena Savva reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35021282, 32823520, 34067185, 34361012; Phenotypes: Spinocerebellar ataxia 19 MIM#607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11792 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Skeletal Dysplasia_Fetal v0.59 NKX3-2 Krithika Murali reviewed gene: NKX3-2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20004766, 29704686; Phenotypes: Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11792 NIPAL4 Krithika Murali reviewed gene: NIPAL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30578701; Phenotypes: Ichthyosis, congenital, autosomal recessive 6 - MIM#612281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4580 NHS Krithika Murali reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11792 NHS Krithika Murali reviewed gene: NHS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31755796, 25266737; Phenotypes: Nance-Horan syndrome - MIM#302350, Cataract 40, X-linked - MIM#302200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.11792 NFKBIL1 Krithika Murali reviewed gene: NFKBIL1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, susceptibility to} - MIM#180300; Mode of inheritance: None
Mendeliome v0.11792 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Callosome v0.417 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4580 NFIA Krithika Murali reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: None; Publications: 35018717, 33973697, 32926563; Phenotypes: Brain malformations with or without urinary tract defects - MIM#613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11792 NEXN Krithika Murali reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Callosome v0.417 NEXN Krithika Murali reviewed gene: NEXN: Rating: RED; Mode of pathogenicity: None; Publications: 33947203, 33949776, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Hydrops fetalis, Cardiomyopathy, dilated 1CC - MIM#613122; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v1.11 NEXN Krithika Murali gene: NEXN was added
gene: NEXN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: NEXN was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were set to 33947203; 33949776; 35166435; 32058062
Phenotypes for gene: NEXN were set to Lethal fetal cardiomyopathy; Hydrops fetalis; Cardiomyopathy, dilated 1CC - MIM#613122
Review for gene: NEXN was set to GREEN
Added comment: NEXN encodes cardiac Z-disc protein. Monoallelic variants associated with both paediatric and adult-onset dilated cardiomyopathy. 3 unrelated families reported with biallelic variants associated with lethal fetal cardiomyopathy.

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


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

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

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


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

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

SUFU-associated Basal cell nevus syndrome (Gorlin) are likely allelic disorders, as there is currently no convincing evidence for a clinical overlap.
Sources: Literature
Mendeliome v0.11792 NEK2 Zornitza Stark Marked gene: NEK2 as ready
Mendeliome v0.11792 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11792 NEK2 Zornitza Stark Phenotypes for gene: NEK2 were changed from to Retinitis pigmentosa 67, MIM#615565
Mendeliome v0.11791 NEK2 Zornitza Stark Publications for gene: NEK2 were set to
Mendeliome v0.11790 NEK2 Zornitza Stark Mode of inheritance for gene: NEK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11789 NEK2 Zornitza Stark Classified gene: NEK2 as Amber List (moderate evidence)
Mendeliome v0.11789 NEK2 Zornitza Stark Gene: nek2 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4580 NDUFV2 Zornitza Stark changed review comment from: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.; to: Multiple unrelated families. Common presenting features include HOCM and encephalopathy, or episodic regression with cavitating leukoencephalopathy, unclear in what proportion ID is likely to be the presenting or main feature.
Intellectual disability syndromic and non-syndromic v0.4580 NDUFV2 Zornitza Stark edited their review of gene: NDUFV2: Changed publications: 12754703, 26008862, 29554876, 33811136
Regression v0.449 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Regression v0.449 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Regression v0.449 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Regression v0.448 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Regression v0.447 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.417 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Callosome v0.417 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Callosome v0.417 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Callosome v0.416 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Callosome v0.415 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.414 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Callosome v0.414 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence)
Genetic Epilepsy v0.1500 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.747 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862
Mendeliome v0.11788 SYCP3 Zornitza Stark Marked gene: SYCP3 as ready
Mendeliome v0.11788 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11788 SYCP3 Zornitza Stark Phenotypes for gene: SYCP3 were changed from to Spermatogenic failure 4, MIM# 270960; Pregnancy loss, recurrent, 4, MIM# 270960
Mendeliome v0.11787 SYCP3 Zornitza Stark Publications for gene: SYCP3 were set to
Mendeliome v0.11786 SYCP3 Zornitza Stark Mode of inheritance for gene: SYCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11785 SYCP3 Zornitza Stark Classified gene: SYCP3 as Amber List (moderate evidence)
Mendeliome v0.11785 SYCP3 Zornitza Stark Gene: sycp3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11784 SYCP3 Zornitza Stark reviewed gene: SYCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 14643120, 19110213, 33170803; Phenotypes: Spermatogenic failure 4, MIM# 270960, Pregnancy loss, recurrent, 4, MIM# 270960; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11784 SYNE4 Zornitza Stark Marked gene: SYNE4 as ready
Mendeliome v0.11784 SYNE4 Zornitza Stark Gene: syne4 has been classified as Green List (High Evidence).
Mendeliome v0.11784 SYNE4 Zornitza Stark Phenotypes for gene: SYNE4 were changed from to Deafness, autosomal recessive 76, MIM# 615540
Mendeliome v0.11783 SYNE4 Zornitza Stark Publications for gene: SYNE4 were set to
Mendeliome v0.11782 SYNE4 Zornitza Stark Mode of inheritance for gene: SYNE4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11781 SYNE4 Zornitza Stark reviewed gene: SYNE4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23348741, 28958982; Phenotypes: Deafness, autosomal recessive 76, MIM# 615540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11781 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from Mental retardation, autosomal dominant 5, MIM# 612621 to Intellectual disability, autosomal dominant 5 (MIM # 612621)
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Marked gene: SYNGAP1 as ready
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Gene: syngap1 has been classified as Green List (High Evidence).
Mendeliome v0.11780 SYNGAP1 Zornitza Stark Phenotypes for gene: SYNGAP1 were changed from to Mental retardation, autosomal dominant 5, MIM# 612621
Mendeliome v0.11779 SYNGAP1 Zornitza Stark Publications for gene: SYNGAP1 were set to
Mendeliome v0.11778 SYNGAP1 Zornitza Stark Mode of inheritance for gene: SYNGAP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11777 SYNGAP1 Zornitza Stark changed review comment from: Unsteady gait and ataxia mentioned in this cohort, but appears to be a rare feature. Presentation is typically with ID/seizures/hypotonia.; to: Well established gene-disease association.
Mendeliome v0.11777 SYNGAP1 Zornitza Stark edited their review of gene: SYNGAP1: Changed publications: 26989088, 23161826, 21237447, 19196676
Mendeliome v0.11777 SYNGAP1 Zornitza Stark edited their review of gene: SYNGAP1: Changed rating: GREEN
Mendeliome v0.11777 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Mendeliome v0.11777 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4580 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389
Intellectual disability syndromic and non-syndromic v0.4579 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Intellectual disability syndromic and non-syndromic v0.4578 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4577 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1499 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1498 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Genetic Epilepsy v0.1497 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1496 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11777 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Developmental and epileptic encephalopathy 53, MIM# 617389; Parkinson disease 20, early-onset, MIM# 615530
Mendeliome v0.11776 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Mendeliome v0.11775 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Marked gene: SYNJ1 as ready
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Gene: synj1 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.126 SYNJ1 Zornitza Stark Phenotypes for gene: SYNJ1 were changed from to Parkinson disease 20, early-onset, MIM# 615530
Early-onset Parkinson disease v0.125 SYNJ1 Zornitza Stark Publications for gene: SYNJ1 were set to
Early-onset Parkinson disease v0.124 SYNJ1 Zornitza Stark Mode of inheritance for gene: SYNJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.123 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23804563, 23804577, 27496670, 33841314; Phenotypes: Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 SYNJ1 Zornitza Stark reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32435303, 27435091, 23804563, 23804577, 27496670, 33841314; Phenotypes: Developmental and epileptic encephalopathy 53, MIM# 617389, Parkinson disease 20, early-onset, MIM# 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 ADCY10 Elena Savva Marked gene: ADCY10 as ready
Mendeliome v0.11774 ADCY10 Elena Savva Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4577 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Intellectual disability syndromic and non-syndromic v0.4576 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4575 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1496 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from Developmental and epileptic encephalopathy 18, OMIM #615476 to Developmental and epileptic encephalopathy 18, OMIM #615476
Genetic Epilepsy v0.1495 SZT2 Zornitza Stark Publications for gene: SZT2 were set to 23932106; 30560016; 30359774; 28556953; 32402703
Callosome v0.413 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Callosome v0.413 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Callosome v0.413 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Genetic Epilepsy v0.1494 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Callosome v0.412 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Callosome v0.411 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1493 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.410 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 SZT2 Zornitza Stark Marked gene: SZT2 as ready
Mendeliome v0.11774 SZT2 Zornitza Stark Gene: szt2 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1492 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11774 SZT2 Zornitza Stark Phenotypes for gene: SZT2 were changed from to Developmental and epileptic encephalopathy 18, OMIM #615476
Mendeliome v0.11773 SZT2 Zornitza Stark Publications for gene: SZT2 were set to
Mendeliome v0.11772 SZT2 Zornitza Stark Mode of inheritance for gene: SZT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11771 SZT2 Zornitza Stark reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23932106, 30560016, 30359774, 28556953, 32402703; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM #615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11771 C2CD6 Zornitza Stark Marked gene: C2CD6 as ready
Mendeliome v0.11771 C2CD6 Zornitza Stark Gene: c2cd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11771 C2CD6 Zornitza Stark Classified gene: C2CD6 as Amber List (moderate evidence)
Mendeliome v0.11771 C2CD6 Zornitza Stark Gene: c2cd6 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11770 C2CD6 Zornitza Stark gene: C2CD6 was added
gene: C2CD6 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: C2CD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD6 were set to 34919125; 34998468; 31985809
Phenotypes for gene: C2CD6 were set to Spermatogenic failure 68 , MIM# 619805
Review for gene: C2CD6 was set to AMBER
Added comment: Single individual and two mouse models.
Sources: Expert list
Mendeliome v0.11769 CCDC62 Zornitza Stark Marked gene: CCDC62 as ready
Mendeliome v0.11769 CCDC62 Zornitza Stark Gene: ccdc62 has been classified as Red List (Low Evidence).
Mendeliome v0.11769 CCDC62 Zornitza Stark gene: CCDC62 was added
gene: CCDC62 was added to Mendeliome. Sources: Expert list
Mode of inheritance for gene: CCDC62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CCDC62 were set to 31985809; 28339613
Phenotypes for gene: CCDC62 were set to Spermatogenic failure 67, MIM# 619803
Review for gene: CCDC62 was set to RED
Added comment: Single individual reported, supportive mouse model.
Sources: Expert list
Mendeliome v0.11768 NEK2 Krithika Murali reviewed gene: NEK2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24043777; Phenotypes: ?Retinitis pigmentosa 67 MIM#615565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11768 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1492 NDUFV2 Krithika Murali gene: NDUFV2 was added
gene: NDUFV2 was added to Genetic Epilepsy. Sources: Literature
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFV2 were set to 33811136; 34405929; 12754703; 26008862; 30770271; 19167255
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229
Review for gene: NDUFV2 was set to AMBER
Added comment: 2 siblings diagnosed with seizures age 3 and 9 months. Seizures not reported in other cases.

--

PMID 33811136 Liu et al 2021 - describe 4 individuals from 2 unrelated families with progressive cavitating leukoencephalopathy, recurring episodes of acute/subacute developmental regression in the first years
of life, followed by gradual remissions and prolonged periods of stability. Variant specific supportive functional evidence provided. MRI brain features - cystic changes in cerebral white matter, with corpus callosum involvement reported in 2 siblings.

PMID 34405929 Kishita et al 2021 - report two unrelated individuals with biallelic variants

PMID 12754703 Benit et al 2003 - report homozygous NDUFV2 4-bp deletion in intron 2 (IVS2+5_+8delGTAA) of the associated with early onset hypertrophic cardiomyopathy with trunk hypotonia in three affected sibs of a consanguineous family

PMID 26008862 Cameron et al 2015 report 5 affected individuals from 2 unrelated families
- Family 1 - intronic mutation (c.IVS2 þ 1delGTAA) + (c.669_670insG, p.Ser224Valfs*3) (hypertrophic cardiomyopathy, brain atrophy)
- Family 2 - homozygous intronic c.IVS2 þ 1delGTAA mutation (proband - seizures started at 2-3 months of age. Regression with progressive spasticity, nystagmus, optic atrophy and microcephaly was noted at 10 months of age. Repeat CT scans showed progressive caudate and putaminal cavitation, brain atrophy. Sibling - FTT, progressive microcephaly, spasticity, cerebral atrophy, still alive at 32 years. Affected male sibling - seizures age 9 months.

PMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy

PMID 19167255 Pagniez-Mammeri et al 2009 - limited clinical information, x1 individual homozygous for splice site variant
Sources: Literature
Callosome v0.410 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.446 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33811136, 34405929, 12754703, 26008862, 30770271, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.746 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271, 33811136, 34405929; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11768 TXNRD2 Zornitza Stark Marked gene: TXNRD2 as ready
Mendeliome v0.11768 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11768 TXNRD2 Zornitza Stark Phenotypes for gene: TXNRD2 were changed from to Glucocorticoid deficiency 5 (GCCD5), MIM#617825; MONDO:0040502
Mendeliome v0.11767 TXNRD2 Zornitza Stark Publications for gene: TXNRD2 were set to
Mendeliome v0.11766 TXNRD2 Zornitza Stark Mode of inheritance for gene: TXNRD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11765 TXNRD2 Zornitza Stark Classified gene: TXNRD2 as Amber List (moderate evidence)
Mendeliome v0.11765 TXNRD2 Zornitza Stark Gene: txnrd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11764 TXNRD2 Zornitza Stark changed review comment from: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.; to: Further cases reported in this large cohort of paediatric primary adrenal insufficiency.

Evidence for association with DCM is limited, considering pop frequency of variants reported.
Mendeliome v0.11764 TXNRD2 Zornitza Stark reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34258490; Phenotypes: Glucocorticoid deficiency 5 (GCCD5), MIM#617825, MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.228 SOS1 Zornitza Stark Marked gene: SOS1 as ready
Hydrops fetalis v0.228 SOS1 Zornitza Stark Gene: sos1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.228 SOS1 Zornitza Stark Phenotypes for gene: SOS1 were changed from to Noonan syndrome 4; #MIM:610733
Hydrops fetalis v0.227 SOS1 Zornitza Stark Publications for gene: SOS1 were set to
Hydrops fetalis v0.226 SOS1 Zornitza Stark Mode of pathogenicity for gene: SOS1 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
Hydrops fetalis v0.225 SOS1 Zornitza Stark Mode of inheritance for gene: SOS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11764 ADCY10 Zornitza Stark Marked gene: ADCY10 as ready
Mendeliome v0.11764 ADCY10 Zornitza Stark Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11764 ADCY10 Zornitza Stark Phenotypes for gene: ADCY10 were changed from to Hypercalciuria, absorptive, susceptibility to MIM#143870; asthenozoospermia with absorptive hypercalciuria
Mendeliome v0.11763 ADCY10 Zornitza Stark Mode of inheritance for gene: ADCY10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11762 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Mendeliome v0.11762 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Mendeliome v0.11762 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency , MIM#606003
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.224 TALDO1 Zornitza Stark Phenotypes for gene: TALDO1 were changed from to Transaldolase deficiency, MIM# 606003
Hydrops fetalis v0.223 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Mendeliome v0.11761 TALDO1 Zornitza Stark Publications for gene: TALDO1 were set to
Mendeliome v0.11760 TALDO1 Zornitza Stark Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.222 TALDO1 Zornitza Stark Mode of inheritance for gene: TALDO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.221 TALDO1 Zornitza Stark reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transaldolase deficiency, MIM# 606003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11759 USP9Y Zornitza Stark Marked gene: USP9Y as ready
Mendeliome v0.11759 USP9Y Zornitza Stark Gene: usp9y has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11759 USP9Y Zornitza Stark Phenotypes for gene: USP9Y were changed from to Spermatogenic failure, Y-linked, 2, MIM#415000
Mendeliome v0.11758 USP9Y Zornitza Stark Publications for gene: USP9Y were set to
Mendeliome v0.11757 USP9Y Zornitza Stark Mode of inheritance for gene: USP9Y was changed from Unknown to Other
Mendeliome v0.11756 USP9Y Zornitza Stark Classified gene: USP9Y as Amber List (moderate evidence)
Mendeliome v0.11756 USP9Y Zornitza Stark Gene: usp9y has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11755 USP9Y Zornitza Stark Tag SV/CNV tag was added to gene: USP9Y.
Mendeliome v0.11755 ADAMTS10 Zornitza Stark Publications for gene: ADAMTS10 were set to
Mendeliome v0.11754 ADAMTS10 Zornitza Stark changed review comment from: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects
Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects.

Multiple families reported.

Sources: Expert list
Mendeliome v0.11754 ADAMTS10 Zornitza Stark edited their review of gene: ADAMTS10: Changed publications: 15368195, 18567016, 19836009
Mendeliome v0.11754 ADAMTS10 Zornitza Stark changed review comment from: Mild intellectual disability is described in around 10% of affected individuals.
Sources: Expert list; to: Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects
Sources: Expert list
Mendeliome v0.11754 ACVRL1 Zornitza Stark Mode of inheritance for gene: ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11753 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Mendeliome v0.11753 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Mendeliome v0.11753 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Mendeliome v0.11752 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
Mendeliome v0.11751 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11750 SARS2 Zornitza Stark reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751860; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11750 ACTN2 Zornitza Stark Mode of inheritance for gene: ACTN2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11749 ACTN2 Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence)
Mendeliome v0.11749 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11748 ACTN2 Zornitza Stark reviewed gene: ACTN2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.53 SAMHD1 Zornitza Stark reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.53 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Vasculitis v0.53 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Vasculitis v0.53 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Vasculitis v0.52 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Vasculitis v0.51 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Marked gene: USH2A as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.110 USH2A Zornitza Stark Publications for gene: USH2A were set to
Mendeliome v0.11748 USH2A Zornitza Stark Marked gene: USH2A as ready
Mendeliome v0.11748 USH2A Zornitza Stark Gene: ush2a has been classified as Green List (High Evidence).
Mendeliome v0.11748 USH2A Zornitza Stark Phenotypes for gene: USH2A were changed from to Usher syndrome, type 2A, MIM# 276901; Retinitis pigmentosa 39, MIM#613809
Mendeliome v0.11747 USH2A Zornitza Stark Publications for gene: USH2A were set to
Mendeliome v0.11746 USH2A Zornitza Stark Mode of inheritance for gene: USH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.446 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Regression v0.446 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Regression v0.446 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Regression v0.445 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Regression v0.444 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.443 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Amber List (moderate evidence)
Regression v0.443 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Amber List (Moderate Evidence).
Ichthyosis v1.2 LOR Zornitza Stark Publications for gene: LOR were set to 8673107; 9326398; 9326323; 25234742; 25142840
Callosome v0.410 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Callosome v0.410 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Callosome v0.410 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Callosome v0.409 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Callosome v0.408 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.407 NDUFS6 Zornitza Stark Classified gene: NDUFS6 as Red List (low evidence)
Callosome v0.407 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mitochondrial disease v0.745 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mitochondrial disease v0.744 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11745 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mendeliome v0.11745 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mendeliome v0.11745 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mendeliome v0.11744 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mendeliome v0.11743 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11742 USH1G Zornitza Stark Marked gene: USH1G as ready
Mendeliome v0.11742 USH1G Zornitza Stark Gene: ush1g has been classified as Green List (High Evidence).
Mendeliome v0.11742 USH1G Zornitza Stark Phenotypes for gene: USH1G were changed from to Usher syndrome, type 1G, MIM# 606943
Mendeliome v0.11741 USH1G Zornitza Stark Publications for gene: USH1G were set to
Mendeliome v0.11740 USH1G Zornitza Stark Mode of inheritance for gene: USH1G was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11739 USH1C Zornitza Stark Marked gene: USH1C as ready
Mendeliome v0.11739 USH1C Zornitza Stark Gene: ush1c has been classified as Green List (High Evidence).
Mendeliome v0.11739 USH1C Zornitza Stark Phenotypes for gene: USH1C were changed from to Usher syndrome, type 1C, MIM# 276904; Deafness, autosomal recessive 18A, MIM# 602092
Mendeliome v0.11738 USH1C Zornitza Stark Publications for gene: USH1C were set to
Mendeliome v0.11737 USH1C Zornitza Stark Mode of inheritance for gene: USH1C was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11736 UROS Zornitza Stark Marked gene: UROS as ready
Mendeliome v0.11736 UROS Zornitza Stark Gene: uros has been classified as Green List (High Evidence).
Mendeliome v0.11736 UROS Zornitza Stark Phenotypes for gene: UROS were changed from to Porphyria, congenital erythropoietic (MIM#263700)
Mendeliome v0.11735 UROS Zornitza Stark Publications for gene: UROS were set to
Mendeliome v0.11734 UROS Zornitza Stark Mode of inheritance for gene: UROS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11733 NDUFS5 Zornitza Stark Marked gene: NDUFS5 as ready
Mendeliome v0.11733 NDUFS5 Zornitza Stark Gene: ndufs5 has been classified as Red List (Low Evidence).
Mendeliome v0.11733 NDUFS5 Zornitza Stark Classified gene: NDUFS5 as Red List (low evidence)
Mendeliome v0.11733 NDUFS5 Zornitza Stark Gene: ndufs5 has been classified as Red List (Low Evidence).
Callosome v0.406 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Callosome v0.406 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Callosome v0.406 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010
Callosome v0.405 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Callosome v0.404 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.403 NDUFS4 Zornitza Stark Classified gene: NDUFS4 as Red List (low evidence)
Callosome v0.403 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Red List (Low Evidence).
Mendeliome v0.11732 TXNRD2 Manny Jacobs reviewed gene: TXNRD2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 24601690, PMID: 21247928; Phenotypes: # 617825 Glucocorticoid deficiency 5 (GCCD5) MONDO:0040502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.221 SOS1 Abhijit Kulkarni reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 17143285, 17143282, 28884940, 17586837; Phenotypes: Noonan syndrome 4, #MIM:610733; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11732 ADCY10 Elena Savva Publications for gene: ADCY10 were set to
Mendeliome v0.11731 ADCY10 Elena Savva Mode of inheritance for gene: ADCY10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11731 ADCY10 Elena Savva Classified gene: ADCY10 as Amber List (moderate evidence)
Mendeliome v0.11731 ADCY10 Elena Savva Gene: adcy10 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11730 ADCY10 Elena Savva reviewed gene: ADCY10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 11932268, 31119281, 25296721, 32913531, 34463764; Phenotypes: Hypercalciuria, absorptive, susceptibility to MIM#143870, asthenozoospermia with absorptive hypercalciuria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hydrops fetalis v0.221 TALDO1 Abhijit Kulkarni reviewed gene: TALDO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35186000, 26238251; Phenotypes: Fetal Hydrops, Oligohydromnios, IUGR, Congenital Heart Disease, Hyperechogenic bowel; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11730 USP9Y Belinda Chong reviewed gene: USP9Y: Rating: AMBER; Mode of pathogenicity: None; Publications: 10581029, 17213277, 15509635, 19737515; Phenotypes: Spermatogenic failure, Y-linked, 2, MIM#415000; Mode of inheritance: Other
Mendeliome v0.11730 ADAT3 Elena Savva Marked gene: ADAT3 as ready
Mendeliome v0.11730 ADAT3 Elena Savva Gene: adat3 has been classified as Green List (High Evidence).
Mendeliome v0.11730 ADAT3 Elena Savva Publications for gene: ADAT3 were set to
Mendeliome v0.11730 ADAT3 Elena Savva Phenotypes for gene: ADAT3 were changed from to Mental retardation, autosomal recessive 36, MIM#615286
Mendeliome v0.11730 ADAT3 Elena Savva Mode of inheritance for gene: ADAT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11729 ADAMTS10 Elena Savva Phenotypes for gene: ADAMTS10 were changed from Weill-Marchesani syndrome 1, recessive, MIM#277600 to Weill-Marchesani syndrome 1, recessive, MIM#277600
Mendeliome v0.11728 ADAMTS10 Elena Savva Phenotypes for gene: ADAMTS10 were changed from to Weill-Marchesani syndrome 1, recessive, MIM#277600
Mendeliome v0.11727 ADAMTS10 Elena Savva Marked gene: ADAMTS10 as ready
Mendeliome v0.11727 ADAMTS10 Elena Savva Gene: adamts10 has been classified as Green List (High Evidence).
Mendeliome v0.11727 ADAMTS10 Elena Savva Mode of inheritance for gene: ADAMTS10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11726 ADAM9 Elena Savva Mode of inheritance for gene: ADAM9 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11725 ADAM9 Elena Savva Phenotypes for gene: ADAM9 were changed from Cone-rod dystrophy 9 MIM#612775 to Cone-rod dystrophy 9 MIM#612775
Mendeliome v0.11725 ADAM9 Elena Savva Publications for gene: ADAM9 were set to PMID: 25091951; 19409519
Mendeliome v0.11724 ADAM9 Elena Savva Publications for gene: ADAM9 were set to
Mendeliome v0.11724 ADAM9 Elena Savva Mode of inheritance for gene: ADAM9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11724 ADAM9 Elena Savva Phenotypes for gene: ADAM9 were changed from to Cone-rod dystrophy 9 MIM#612775
Mendeliome v0.11723 ADAM9 Elena Savva Marked gene: ADAM9 as ready
Mendeliome v0.11723 ADAM9 Elena Savva Gene: adam9 has been classified as Green List (High Evidence).
Mendeliome v0.11723 ADAM9 Elena Savva reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25091951, 19409519; Phenotypes: Cone-rod dystrophy 9 MIM#612775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11723 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11723 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376 to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11722 ACVRL1 Elena Savva Phenotypes for gene: ACVRL1 were changed from to Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376
Mendeliome v0.11721 ACVRL1 Elena Savva Publications for gene: ACVRL1 were set to
Mendeliome v0.11721 ACVRL1 Elena Savva Marked gene: ACVRL1 as ready
Mendeliome v0.11721 ACVRL1 Elena Savva Gene: acvrl1 has been classified as Green List (High Evidence).
Mendeliome v0.11721 ACVRL1 Elena Savva Mode of inheritance for gene: ACVRL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11720 ACVRL1 Elena Savva reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16542389; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2 MIM#600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11720 ACTN2 Elena Savva Phenotypes for gene: ACTN2 were changed from 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 to 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
Mendeliome v0.11720 ACTN2 Elena Savva Publications for gene: ACTN2 were set to PMID: 34802252; 27287556
Mendeliome v0.11719 SARS2 Samantha Ayres reviewed gene: SARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24034276, 21255763; Phenotypes: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11719 ACTN2 Elena Savva Phenotypes for gene: ACTN2 were changed from to 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
Mendeliome v0.11718 ACTN2 Elena Savva Publications for gene: ACTN2 were set to
Mendeliome v0.11718 ACTN2 Elena Savva Marked gene: ACTN2 as ready
Mendeliome v0.11718 ACTN2 Elena Savva Gene: actn2 has been classified as Green List (High Evidence).
Mendeliome v0.11718 ACTN2 Elena Savva Mode of inheritance for gene: ACTN2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.11717 ACTN2 Elena Savva reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34802252, 27287556; 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vasculitis v0.50 SAMHD1 Samantha Ayres reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11717 ACADSB Elena Savva Marked gene: ACADSB as ready
Mendeliome v0.11717 ACADSB Elena Savva Gene: acadsb has been classified as Green List (High Evidence).
Mendeliome v0.11717 ACTG1 Elena Savva Publications for gene: ACTG1 were set to
Mendeliome v0.11718 ACTG1 Elena Savva Phenotypes for gene: ACTG1 were changed from to Baraitser-Winter syndrome 2 MIM#614583; Deafness, autosomal dominant 20/26 MIM#604717
Mendeliome v0.11717 ACTG1 Elena Savva Mode of pathogenicity for gene: ACTG1 was changed from to Other
Mendeliome v0.11717 ACTG1 Elena Savva Marked gene: ACTG1 as ready
Mendeliome v0.11717 ACTG1 Elena Savva Gene: actg1 has been classified as Green List (High Evidence).
Mendeliome v0.11717 ACTG1 Elena Savva Mode of inheritance for gene: ACTG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11716 ACTG1 Elena Savva reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29620237; Phenotypes: Baraitser-Winter syndrome 2MIM#614583, Deafness, autosomal dominant 20/26 MIM#604717; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11716 ACHE Elena Savva Marked gene: ACHE as ready
Mendeliome v0.11716 ACHE Elena Savva Gene: ache has been classified as Red List (Low Evidence).
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from Amelogenesis imperfecta, type IJ MIM#617297 to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11716 ACP4 Elena Savva Publications for gene: ACP4 were set to 28513613; 27843125; 33552707
Mendeliome v0.11715 ACP4 Elena Savva Phenotypes for gene: ACP4 were changed from to Amelogenesis imperfecta, type IJ MIM#617297
Mendeliome v0.11715 ACP4 Elena Savva Publications for gene: ACP4 were set to
Mendeliome v0.11714 ACP4 Elena Savva Marked gene: ACP4 as ready
Mendeliome v0.11714 ACP4 Elena Savva Gene: acp4 has been classified as Green List (High Evidence).
Mendeliome v0.11714 ACP4 Elena Savva Mode of inheritance for gene: ACP4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11713 ACHE Elena Savva Publications for gene: ACHE were set to
Mendeliome v0.11713 ACHE Elena Savva Phenotypes for gene: ACHE were changed from to [Blood group, Yt system] MIM#112100
Mendeliome v0.11712 ACHE Elena Savva Classified gene: ACHE as Red List (low evidence)
Mendeliome v0.11712 ACHE Elena Savva Gene: ache has been classified as Red List (Low Evidence).
Mendeliome v0.11711 ACHE Elena Savva reviewed gene: ACHE: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 12783426, 8488842; Phenotypes: [Blood group, Yt system] MIM#112100; Mode of inheritance: Unknown
Mendeliome v0.11711 ACADSB Elena Savva Phenotypes for gene: ACADSB were changed from to 2-methylbutyrylglycinuria MIM#610006
Mendeliome v0.11710 UNG Zornitza Stark Mode of inheritance for gene: UNG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11709 ACADSB Elena Savva Publications for gene: ACADSB were set to
Mendeliome v0.11709 ACADSB Elena Savva Mode of inheritance for gene: ACADSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11708 ACADSB Elena Savva reviewed gene: ACADSB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25778941, 17945527; Phenotypes: 2-methylbutyrylglycinuria MIM#610006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11708 WAS Zornitza Stark Marked gene: WAS as ready
Mendeliome v0.11708 WAS Zornitza Stark Gene: was has been classified as Green List (High Evidence).
Mendeliome v0.11708 WAS Zornitza Stark Phenotypes for gene: WAS were changed from to Wiskott-Aldrich syndrome, MIM# 301000; Thrombocytopaenia, X-linked, MIM# 313900; Neutropenia, severe congenital, X-linked , MIM#300299
Mendeliome v0.11707 WAS Zornitza Stark Publications for gene: WAS were set to
Mendeliome v0.11706 WAS Zornitza Stark Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11705 WAS Zornitza Stark reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome, MIM# 301000, Thrombocytopaenia, X-linked, MIM# 313900, Neutropenia, severe congenital, X-linked , MIM#300299; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.109 USH2A Belinda Chong reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11705 WAS Abhijit Kulkarni reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 30969660, 34307257, 20301357; Phenotypes: Congenital Neutropenia, Throbocytopenia, Immunodefeciency, Eczema; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Disorders of immune dysregulation v0.112 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Disorders of immune dysregulation v0.111 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Disorders of immune dysregulation v0.110 UNC13D Zornitza Stark Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Disorders of immune dysregulation v0.109 UNC13D Zornitza Stark reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11705 UNC13D Zornitza Stark Phenotypes for gene: UNC13D were changed from to Haemophagocytic lymphohistiocytosis, familial, 3 MIM#608898
Mendeliome v0.11704 UNC13D Zornitza Stark Publications for gene: UNC13D were set to
Mendeliome v0.11703 UNC13D Zornitza Stark Mode of inheritance for gene: UNC13D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.50 C8A Zornitza Stark Marked gene: C8A as ready
Vasculitis v0.50 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.50 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Vasculitis v0.49 C8A Zornitza Stark Publications for gene: C8A were set to
Vasculitis v0.48 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.47 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Vasculitis v0.47 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Vasculitis v0.46 C8A Zornitza Stark reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.72 C8A Zornitza Stark Marked gene: C8A as ready
Complement Deficiencies v0.72 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.72 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Complement Deficiencies v0.71 C8A Zornitza Stark Publications for gene: C8A were set to
Complement Deficiencies v0.70 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.69 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Complement Deficiencies v0.69 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.68 C8A Zornitza Stark reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11702 C8A Zornitza Stark Marked gene: C8A as ready
Mendeliome v0.11702 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11702 C8A Zornitza Stark Phenotypes for gene: C8A were changed from to C8 deficiency, type I MIM#613790
Mendeliome v0.11701 C8A Zornitza Stark Publications for gene: C8A were set to
Mendeliome v0.11700 C8A Zornitza Stark Mode of inheritance for gene: C8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11699 C8A Zornitza Stark Classified gene: C8A as Amber List (moderate evidence)
Mendeliome v0.11699 C8A Zornitza Stark Gene: c8a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11698 SAMHD1 Zornitza Stark Marked gene: SAMHD1 as ready
Mendeliome v0.11698 SAMHD1 Zornitza Stark Gene: samhd1 has been classified as Green List (High Evidence).
Mendeliome v0.11698 SAMHD1 Zornitza Stark Phenotypes for gene: SAMHD1 were changed from to Aicardi-Goutieres syndrome 5, MIM# 612952
Mendeliome v0.11697 SAMHD1 Zornitza Stark Publications for gene: SAMHD1 were set to
Mendeliome v0.11696 SAMHD1 Zornitza Stark Mode of inheritance for gene: SAMHD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11695 UNC119 Zornitza Stark Marked gene: UNC119 as ready
Mendeliome v0.11695 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Mendeliome v0.11695 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from to Cone-rod dystrophy, MONDO:0015993; Immunodeficiency 13 MIM#615518
Mendeliome v0.11694 UNC119 Zornitza Stark Publications for gene: UNC119 were set to
Mendeliome v0.11693 UNC119 Zornitza Stark Mode of inheritance for gene: UNC119 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11692 UNC119 Zornitza Stark Classified gene: UNC119 as Green List (high evidence)
Mendeliome v0.11692 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Marked gene: UNC119 as ready
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Gene: unc119 has been classified as Green List (High Evidence).
Cone-rod Dystrophy v0.34 UNC119 Zornitza Stark Publications for gene: UNC119 were set to 30679166
Cone-rod Dystrophy v0.33 UNC119 Zornitza Stark Phenotypes for gene: UNC119 were changed from ?Cone-rod dystrophy to Cone-rod dystrophy, MONDO:0015993
Mendeliome v0.11691 UNC119 Zornitza Stark changed review comment from: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.

Amber for association with cone-rod dystrophy.; to: Immunodeficiency 13: Single case reported with the missense Gly22Val. The allele frequency of this variant is >2% in the African/African American subpopulation in gnomAD v2.1, including 6 homozygotes. RED for this association.

Borderline Green for association with cone-rod dystrophy.
Mendeliome v0.11691 UNC119 Zornitza Stark edited their review of gene: UNC119: Changed rating: GREEN
Mendeliome v0.11691 UNC119 Zornitza Stark Classified gene: UNC119 as Amber List (moderate evidence)
Mendeliome v0.11691 UNC119 Zornitza Stark Gene: unc119 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11690 UNC119 Zornitza Stark reviewed gene: UNC119: Rating: AMBER; Mode of pathogenicity: None; Publications: 22184408; Phenotypes: Cone-rod dystrophy, MONDO:0015993, Immunodeficiency 13 MIM#615518; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11690 SAMD9 Zornitza Stark Marked gene: SAMD9 as ready
Mendeliome v0.11690 SAMD9 Zornitza Stark Gene: samd9 has been classified as Green List (High Evidence).
Mendeliome v0.11690 SAMD9 Zornitza Stark Phenotypes for gene: SAMD9 were changed from to MIRAGE syndrome, MIM#617053; Tumoral calcinosis, familial, normophosphatemic, MIM#610455; Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041
Mendeliome v0.11689 SAMD9 Zornitza Stark Publications for gene: SAMD9 were set to
Mendeliome v0.11688 SAMD9 Zornitza Stark Mode of inheritance for gene: SAMD9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11687 SAMD9 Zornitza Stark reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM# 619041; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11687 UCP3 Zornitza Stark Marked gene: UCP3 as ready
Mendeliome v0.11687 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11687 UCP3 Zornitza Stark Publications for gene: UCP3 were set to
Mendeliome v0.11686 UCP3 Zornitza Stark Phenotypes for gene: UCP3 were changed from to {Obesity, severe, and type II diabetes}, MIM#601665
Mendeliome v0.11685 UCP3 Zornitza Stark Mode of inheritance for gene: UCP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11684 UCP3 Zornitza Stark Classified gene: UCP3 as Red List (low evidence)
Mendeliome v0.11684 UCP3 Zornitza Stark Gene: ucp3 has been classified as Red List (Low Evidence).
Mendeliome v0.11683 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mendeliome v0.11683 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mendeliome v0.11683 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mendeliome v0.11682 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mendeliome v0.11681 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.402 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Callosome v0.402 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Callosome v0.402 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Callosome v0.401 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Callosome v0.400 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.399 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Red List (low evidence)
Callosome v0.399 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mitochondrial disease v0.742 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mitochondrial disease v0.741 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.442 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Regression v0.442 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Regression v0.442 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Regression v0.441 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Regression v0.440 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Classified gene: NDUFS3 as Amber List (moderate evidence)
Optic Atrophy v1.7 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11680 USH2A Belinda Chong Deleted their comment
Vasculitis v0.46 C4A Zornitza Stark Marked gene: C4A as ready
Vasculitis v0.46 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11680 USH2A Belinda Chong edited their review of gene: USH2A: Added comment: Well established gene-disease association - Usher syndrome, DEFINITIVE by ClinGen.

PMID 20507924: Screened the long isoform of USH2A in 80 patients with nonsyndromic autosomal recessive RP and identified at least 1 deleterious mutation in 19% of cases. The authors stated that their findings supported USH2A as the most common known cause of RP in the United States.

https://www.ncbi.nlm.nih.gov/books/NBK1341/, PMID 17296898, ClinVar
Reports of cosegregation of Usher Syndrome and Retinitis Pigmentosa; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.46 C4A Zornitza Stark Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Vasculitis v0.45 C4A Zornitza Stark Publications for gene: C4A were set to
Vasculitis v0.44 C4A Zornitza Stark Mode of inheritance for gene: C4A was changed from Unknown to Other
Vasculitis v0.43 C4A Zornitza Stark Classified gene: C4A as Amber List (moderate evidence)
Vasculitis v0.43 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11680 USH2A Belinda Chong reviewed gene: USH2A: Rating: ; Mode of pathogenicity: None; Publications: 12427073, 20507924, 17296898, 19881469, 18273898; Phenotypes: Usher syndrome, type 2A, MIM# 276901, Retinitis pigmentosa 39, MIM#613809; Mode of inheritance: None; Current diagnostic: yes
Vasculitis v0.42 C4A Zornitza Stark Tag SV/CNV tag was added to gene: C4A.
Vasculitis v0.42 C4A Zornitza Stark reviewed gene: C4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other
Mendeliome v0.11680 C4A Zornitza Stark Marked gene: C4A as ready
Mendeliome v0.11680 C4A Zornitza Stark Gene: c4a has been classified as Amber List (Moderate Evidence).
Regression v0.439 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790, 27290639, 28429146; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ichthyosis v1.1 LOR Teresa Zhao reviewed gene: LOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 8673107, 11121146, 11038186; Phenotypes: Vohwinkel syndrome with ichthyosis (MIM#604117); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Callosome v0.398 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: RED; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11680 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11680 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mendeliome v0.11680 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mendeliome v0.11680 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mendeliome v0.11679 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mendeliome v0.11678 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mitochondrial disease v0.739 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mitochondrial disease v0.738 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11677 USH1G Belinda Chong reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: None; Publications: 12588794, 21044053; Phenotypes: Usher syndrome, type 1G, MIM# 606943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11677 C4A Ain Roesley edited their review of gene: C4A: Changed rating: AMBER; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11677 C4A Ain Roesley Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mendeliome v0.11676 C4A Ain Roesley Publications for gene: C4A were set to
Mendeliome v0.11675 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11675 C4A Ain Roesley Classified gene: C4A as Amber List (moderate evidence)
Mendeliome v0.11675 C4A Ain Roesley Gene: c4a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4A Ain Roesley Tag SV/CNV tag was added to gene: C4A.
Callosome v0.398 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Callosome v0.398 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
Callosome v0.398 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Callosome v0.397 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Complement Deficiencies v0.68 C4A Ain Roesley edited their review of gene: C4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.396 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Callosome v0.395 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Red List (low evidence)
Callosome v0.395 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Red List (Low Evidence).
Mendeliome v0.11674 C4A Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B

There are no LP/P SNV in clinvar

PMID: 32048120; 2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Complement Deficiencies v0.68 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Regression v0.439 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Regression v0.439 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Regression v0.439 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Regression v0.438 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mendeliome v0.11674 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 USH1C Belinda Chong reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: None; Publications: 31858762, 10973247, 10973248, 11239869, 21203349, 12107438; Phenotypes: Usher syndrome, type 1C, MIM# 276904, Deafness, autosomal recessive 18A, MIM# 602092, ?Non-syndromic hearing loss; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11674 C4B Ain Roesley Marked gene: C4B as ready
Mendeliome v0.11674 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.67 C4B Zornitza Stark Tag for review was removed from gene: C4B.
Regression v0.437 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11674 C4B Zornitza Stark Marked gene: C4B as ready
Mendeliome v0.11674 C4B Zornitza Stark Gene: c4b has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11674 C4B Ain Roesley Phenotypes for gene: C4B were changed from susceptibility to autoimmune disease; C4B deficiency MIM#614379 to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Mendeliome v0.11674 C4B Zornitza Stark Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Complement Deficiencies v0.67 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4B Ain Roesley edited their review of gene: C4B: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11673 C4B Zornitza Stark Publications for gene: C4B were set to 34764957; 12626442; 22387014; 17503323; 32048120
Mendeliome v0.11672 C4B Ain Roesley Publications for gene: C4B were set to
Mendeliome v0.11671 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Classified gene: NDUFS2 as Green List (high evidence)
Optic Atrophy v1.6 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.737 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mendeliome v0.11670 C4B Zornitza Stark Mode of inheritance for gene: C4B was changed from Unknown to Other
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 33751534; 24952175; 20382551; 21203893; 20797884; 15824269; 25615419; 11349233; 22399432
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mendeliome v0.11669 UROS Belinda Chong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28334762, 27512208, 34187847, 34828434, 15065102; Phenotypes: Porphyria, congenital erythropoietic (MIM#263700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.735 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11669 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Mendeliome v0.11669 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.65 C4A Ain Roesley Phenotypes for gene: C4A were changed from C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Mendeliome v0.11668 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.66 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Other to Other
Complement Deficiencies v0.66 C4A Ain Roesley Tag SV/CNV tag was added to gene: C4A.
Mendeliome v0.11668 C4B Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A

no LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Mendeliome v0.11668 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER; Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Complement Deficiencies v0.66 C4A Ain Roesley Phenotypes for gene: C4A were changed from to C4a deficiency MIM#614380; susceptibility systemic lupus erythematosus
Regression v0.436 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Regression v0.435 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Regression v0.435 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Complement Deficiencies v0.65 C4A Ain Roesley Publications for gene: C4A were set to
Regression v0.435 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Complement Deficiencies v0.65 C4A Ain Roesley Mode of inheritance for gene: C4A was changed from Unknown to Other
Regression v0.435 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Complement Deficiencies v0.65 C4A Ain Roesley Classified gene: C4A as Amber List (moderate evidence)
Complement Deficiencies v0.65 C4A Ain Roesley Gene: c4a has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.64 C4A Ain Roesley Marked gene: C4A as ready
Complement Deficiencies v0.64 C4A Ain Roesley Gene: c4a has been classified as Green List (High Evidence).
Regression v0.434 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed rating: AMBER
Complement Deficiencies v0.64 C4A Ain Roesley edited their review of gene: C4A: Changed publications: 22387014, 22737222, 15998580, 10529130, 15294999, 32048120
Complement Deficiencies v0.64 C4A Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4B

There are no LP/P SNV in clinvar

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4A alone leads to partial deficiency
Mendeliome v0.11668 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mendeliome v0.11668 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mendeliome v0.11668 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Complement Deficiencies v0.64 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Other to Other
Complement Deficiencies v0.63 C4B Ain Roesley Phenotypes for gene: C4B were changed from to susceptibility to autoimmune disease; C4B deficiency MIM#614379
Complement Deficiencies v0.63 C4B Ain Roesley Publications for gene: C4B were set to
Complement Deficiencies v0.63 C4B Ain Roesley Mode of inheritance for gene: C4B was changed from Unknown to Other
Complement Deficiencies v0.63 C4B Ain Roesley Marked gene: C4B as ready
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.63 C4B Ain Roesley Tag SV/CNV tag was added to gene: C4B.
Complement Deficiencies v0.63 C4B Ain Roesley Classified gene: C4B as Amber List (moderate evidence)
Complement Deficiencies v0.63 C4B Ain Roesley Gene: c4b has been classified as Amber List (Moderate Evidence).
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed rating: AMBER
Complement Deficiencies v0.62 C4B Ain Roesley edited their review of gene: C4B: Changed publications: 34764957, 12626442, 22387014, 17503323, 32048120
Complement Deficiencies v0.62 C4B Ain Roesley changed review comment from: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A; to: Associated with increased risk for systemic lupus erythematosus (SLE).
This is mostly involving haplotypes, gene copy number, gene conversions with/without C4A

no LP/P SNVs in clinvar. (1 LP but evidence provided indicates that it was classified as a VUS)

PMID: 32048120;
2019 Update of the IUIS Phenotypical Classification indicates that complete C4 deficiency requires both C4A+C4B and C4B alone leads to partial deficiency
Mendeliome v0.11667 NDUFS5 Krithika Murali reviewed gene: NDUFS5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11667 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Mendeliome v0.11666 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.394 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Callosome v0.394 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Callosome v0.394 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Callosome v0.393 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Callosome v0.392 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: RED; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11665 UCP3 Belinda Chong edited their review of gene: UCP3: Changed rating: RED
Mendeliome v0.11665 UCP3 Belinda Chong changed review comment from: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X).

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X; to: Inheritance: Autosomal dominant, autosomal recessive and multifactorial

PMID: 21544083
Identified four novel mutations in the UCP3 gene (V56M, A111V, V192I and Q252X) in 200 children with severe, early-onset obesity (body mass index-standard deviation score >2.5; onset: <4 years) living in Southern Italy. Indicated that protein UCP3 affects long-chain fatty acid metabolism and can prevent cytosolic triglyceride storage. Also suggested that telmisartan, which increases fatty acid oxidation in rat skeletal muscle, also improves UCP3 wt and mutant protein activity, including the dominant-negative UCP3 mutants (V56M & Q252X). Single pathogenic variant in ClinVar

All variants are present in GnomAD there are 56 - V56M, 325 - A111V, 9 - V192I and 2 - A252X
Mendeliome v0.11665 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555, 27079373, 15975579, 19364667, 27671926, 33093004, 29264396, 34484776; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11665 UROD Belinda Chong reviewed gene: UROD: Rating: GREEN; Mode of pathogenicity: None; Publications: 23545314, 30514647, 9792863; Phenotypes: Porphyria cutanea tarda, Porphyria, hepatoerythropoietic (MIM#176100); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UQCRB Belinda Chong commented on gene: UQCRB: Three families, two had the same variant. Functional data.
Mendeliome v0.11665 UQCRB Belinda Chong reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789, 25446085, 23454382; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UQCC2 Belinda Chong reviewed gene: UQCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 UNG Belinda Chong reviewed gene: UNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 12958596; Phenotypes: Immunodeficiency with hyper IgM, type 5, MIM#608106; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v1.11 NDUFS4 Krithika Murali Deleted their review
Fetal anomalies v1.11 NDUFS4 Krithika Murali reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11181577, 11165261, 16478720, 10944442, 24295889, 22326555; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1 - MIM#252010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11665 UNC13D Belinda Chong reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: None; Publications: 14622600, 16825436, 17993578; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3 MIM#608898; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11665 C9 Ain Roesley Marked gene: C9 as ready
Mendeliome v0.11665 C9 Ain Roesley Gene: c9 has been classified as Green List (High Evidence).
Mendeliome v0.11665 C9 Ain Roesley Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Complement Deficiencies v0.62 C9 Ain Roesley Marked gene: C9 as ready
Complement Deficiencies v0.62 C9 Ain Roesley Gene: c9 has been classified as Green List (High Evidence).
Mendeliome v0.11664 C9 Ain Roesley Publications for gene: C9 were set to
Complement Deficiencies v0.62 C9 Ain Roesley Phenotypes for gene: C9 were changed from to C9 deficiency MIM#613825
Complement Deficiencies v0.61 C9 Ain Roesley Publications for gene: C9 were set to
Complement Deficiencies v0.60 C9 Ain Roesley Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.59 C9 Ain Roesley reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11663 C9 Ain Roesley Mode of inheritance for gene: C9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11662 C9 Ain Roesley reviewed gene: C9: Rating: GREEN; Mode of pathogenicity: None; Publications: 9570574, 9703418, 9144525, 31440263, 9634479; Phenotypes: C9 deficiency MIM#613825; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11662 C8B Ain Roesley Marked gene: C8B as ready
Mendeliome v0.11662 C8B Ain Roesley Gene: c8b has been classified as Green List (High Evidence).
Complement Deficiencies v0.59 C8B Ain Roesley Marked gene: C8B as ready
Complement Deficiencies v0.59 C8B Ain Roesley Gene: c8b has been classified as Green List (High Evidence).
Complement Deficiencies v0.59 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Mendeliome v0.11662 C8B Ain Roesley Phenotypes for gene: C8B were changed from to C8 deficiency, type II MIM#613789
Fetal anomalies v1.11 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Complement Deficiencies v0.58 C8B Ain Roesley Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.266 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Mendeliome v0.11661 C8B Ain Roesley Publications for gene: C8B were set to
Stroke v1.6 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Complement Deficiencies v0.57 C8B Ain Roesley reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Syndromic Retinopathy v0.187 ABCC6 Zornitza Stark Tag SV/CNV tag was added to gene: ABCC6.
Mendeliome v0.11660 C8B Ain Roesley Mode of inheritance for gene: C8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11659 C8B Ain Roesley reviewed gene: C8B: Rating: GREEN; Mode of pathogenicity: None; Publications: 8098723, 33563058, 27183977, 9476133, 19434484; Phenotypes: C8 deficiency, type II MIM#613789; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11659 C8A Ain Roesley changed review comment from: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)

PMID: 8098723; 3 families hom for a nonsense and 2 families 3rd het for the same nonsense and unknown 2nd allele

Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.; to: 6 unrelated (2 japanese and 4 africans) with 3 different variants between them (2 splice - 1 with aberrant splicing proven on cDNA and 1 nonsense)


Amber because no other reports apart from these papers and comprehensive sequencing was not done even in the 2020 paper.
Mendeliome v0.11659 C8A Ain Roesley edited their review of gene: C8A: Changed publications: 9759902, 32769119
Mendeliome v0.11659 C8A Ain Roesley reviewed gene: C8A: Rating: AMBER; Mode of pathogenicity: None; Publications: 9759902, 32769119, 8098723; Phenotypes: C8 deficiency, type I MIM#613790; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11659 SAMHD1 Samantha Ayres reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19525956, 21102625, 33307271, 20301648; Phenotypes: Aicardi-Goutieres syndrome 5, MIM# 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11659 UNC119 Belinda Chong reviewed gene: UNC119: Rating: GREEN; Mode of pathogenicity: None; Publications: 11006213, 23563732, 27079236; Phenotypes: Cone-rod dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.11659 SAMD9 Samantha Ayres reviewed gene: SAMD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 33237688, 32619790, 16960814, 18094730; Phenotypes: MIRAGE syndrome, MIM#617053, Tumoral calcinosis, familial, normophosphatemic, MIM#610455, Monosomy 7 myelodysplasia and leukemia syndrome 2, MIM#619041; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11659 UCP3 Belinda Chong reviewed gene: UCP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 10618503, 11238538, 21544083; Phenotypes: {Obesity, severe, and type II diabetes}; Mode of inheritance: Other
Mendeliome v0.11659 C7 Ain Roesley Marked gene: C7 as ready
Mendeliome v0.11659 C7 Ain Roesley Gene: c7 has been classified as Green List (High Evidence).
Mendeliome v0.11659 C7 Ain Roesley Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102
Complement Deficiencies v0.57 C7 Ain Roesley Marked gene: C7 as ready
Complement Deficiencies v0.57 C7 Ain Roesley Gene: c7 has been classified as Green List (High Evidence).
Mendeliome v0.11658 C7 Ain Roesley Publications for gene: C7 were set to
Complement Deficiencies v0.57 C7 Ain Roesley Phenotypes for gene: C7 were changed from to C7 deficiency MIM#610102
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to 22206826; 20591074; 17407100; 16771861; 16552475
Complement Deficiencies v0.56 C7 Ain Roesley Publications for gene: C7 were set to
Complement Deficiencies v0.55 C7 Ain Roesley Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11657 C7 Ain Roesley Mode of inheritance for gene: C7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11656 C7 Ain Roesley reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.54 C7 Ain Roesley reviewed gene: C7: Rating: GREEN; Mode of pathogenicity: None; Publications: 22206826, 20591074, 17407100, 16771861, 16552475; Phenotypes: C7 deficiency MIM#610102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11656 C6 Ain Roesley Phenotypes for gene: C6 were changed from C6 deficiency MIM#612446 to C6 deficiency MIM#612446
Complement Deficiencies v0.54 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Mendeliome v0.11655 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to 23537992; 24378253; 17257682; 22668955; 32670577
Complement Deficiencies v0.53 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Complement Deficiencies v0.53 C6 Ain Roesley Publications for gene: C6 were set to
Mendeliome v0.11654 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.53 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11653 C6 Ain Roesley Publications for gene: C6 were set to
Mendeliome v0.11653 C6 Ain Roesley Phenotypes for gene: C6 were changed from to C6 deficiency MIM#612446
Mendeliome v0.11653 C6 Ain Roesley Mode of inheritance for gene: C6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11652 C6 Ain Roesley Marked gene: C6 as ready
Mendeliome v0.11652 C6 Ain Roesley Gene: c6 has been classified as Green List (High Evidence).
Complement Deficiencies v0.52 C6 Ain Roesley Marked gene: C6 as ready
Complement Deficiencies v0.52 C6 Ain Roesley Gene: c6 has been classified as Green List (High Evidence).
Mendeliome v0.11652 C6 Ain Roesley reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.52 C6 Ain Roesley reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11652 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.5 NDUFS3 Krithika Murali gene: NDUFS3 was added
gene: NDUFS3 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS3 were set to 22499348; 30140060; 14729820; 33097395
Phenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Review for gene: NDUFS3 was set to AMBER
Added comment: 4 unrelated families reported with supportive functional evidence. Leigh-syndrome phenotype reported with features suggestive of optic atrophy described in one patient.

--

PMID 22499348 - report one individual with homozygous variants and developmental delay, muscular hypotonia, lactic acidosis, rapid progression of disease.

PMID 30140060 - report one individual with compound het variants and Leigh-syndrome phenotype. MRI-B showed a high T2 signal intensity in the white matter of hemispheres, basal ganglia and brain stem with progressive changes. Patient deceased age 2.

PMID 14729820 - report one individual with compound het variant and affected foetus. The proband presented at the age of 9 with persistent stiff neck. MRI-B age 10 detected high T2 signal intensity in the putamen, white matter and brainstem. Also had features of optic nerve atrophy and later developed acute pancreatitis, severe respiratory insufficiency and died age 13 after rapid multisystem deterioration.

PMID 33097395 - report one adult patient with compound-het variants and Leigh Syndrome features
Sources: Literature
Mendeliome v0.11652 C5 Ain Roesley Marked gene: C5 as ready
Mendeliome v0.11652 C5 Ain Roesley Gene: c5 has been classified as Green List (High Evidence).
Mendeliome v0.11652 C5 Ain Roesley Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Complement Deficiencies v0.52 C5 Ain Roesley Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536
Complement Deficiencies v0.51 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11651 C5 Ain Roesley Publications for gene: C5 were set to
Complement Deficiencies v0.51 C5 Ain Roesley Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790
Complement Deficiencies v0.50 C5 Ain Roesley Publications for gene: C5 were set to
Complement Deficiencies v0.50 C5 Ain Roesley Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.50 C5 Ain Roesley Mode of pathogenicity for gene: C5 was changed from to None
Mendeliome v0.11650 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.50 C5 Ain Roesley Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.49 C5 Ain Roesley Marked gene: C5 as ready
Complement Deficiencies v0.49 C5 Ain Roesley Gene: c5 has been classified as Green List (High Evidence).
Mendeliome v0.11649 C5 Ain Roesley reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Complement Deficiencies v0.49 C5 Ain Roesley reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11649 C4A Ain Roesley reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes
Complement Deficiencies v0.49 C4A Ain Roesley reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.11649 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic Atrophy v1.5 NDUFS2 Krithika Murali gene: NDUFS2 was added
gene: NDUFS2 was added to Optic Atrophy. Sources: Literature
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFS2 were set to 28031252; 31411514; 22036843; 20819849; 11220739; 23266820; 31411514
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Review for gene: NDUFS2 was set to GREEN
Added comment: PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression.

PMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.

PMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.

PMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy

PMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features.
Sources: Literature
Complement Deficiencies v0.49 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379; Mode of inheritance: Other; Current diagnostic: yes
Mendeliome v0.11649 C4B Ain Roesley edited their review of gene: C4B: Changed phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379
Mendeliome v0.11649 C4B Ain Roesley reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease; Mode of inheritance: Other; Current diagnostic: yes
Mitochondrial disease v0.733 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.433 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11649 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.391 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20382551, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11649 C3 Ain Roesley Marked gene: C3 as ready
Mendeliome v0.11649 C3 Ain Roesley Gene: c3 has been classified as Green List (High Evidence).
Mendeliome v0.11649 C3 Ain Roesley Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779
Mendeliome v0.11648 C3 Ain Roesley Publications for gene: C3 were set to
Complement Deficiencies v0.49 C3 Ain Roesley Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779
Complement Deficiencies v0.49 C3 Ain Roesley Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111
Complement Deficiencies v0.48 C3 Ain Roesley Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779
Complement Deficiencies v0.48 C3 Ain Roesley Publications for gene: C3 were set to
Complement Deficiencies v0.48 C3 Ain Roesley Mode of pathogenicity for gene: C3 was changed from to None
Complement Deficiencies v0.48 C3 Ain Roesley Marked gene: C3 as ready
Complement Deficiencies v0.48 C3 Ain Roesley Gene: c3 has been classified as Green List (High Evidence).
Complement Deficiencies v0.48 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11647 C3 Ain Roesley Mode of pathogenicity for gene: C3 was changed from to None
Mendeliome v0.11646 C3 Ain Roesley Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Complement Deficiencies v0.47 C3 Ain Roesley reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11645 C3 Ain Roesley reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11645 SMARCA4 Zornitza Stark Marked gene: SMARCA4 as ready
Mendeliome v0.11645 SMARCA4 Zornitza Stark Gene: smarca4 has been classified as Green List (High Evidence).
Mendeliome v0.11645 SMARCA4 Zornitza Stark Phenotypes for gene: SMARCA4 were changed from to Coffin-Siris syndrome 4, MIM# 614609
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA4 from the panel
Mendeliome v0.11644 SMARCA4 Zornitza Stark Publications for gene: SMARCA4 were set to
Skeletal dysplasia v0.157 Zornitza Stark removed gene:SMARCA2 from the panel
Mendeliome v0.11643 SMARCA4 Zornitza Stark Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11642 SMARCA4 Zornitza Stark reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4, MIM# 614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11642 SMAD9 Zornitza Stark Marked gene: SMAD9 as ready
Mendeliome v0.11642 SMAD9 Zornitza Stark Gene: smad9 has been classified as Green List (High Evidence).
Mendeliome v0.11642 SMAD9 Zornitza Stark Phenotypes for gene: SMAD9 were changed from to Pulmonary hypertension, primary, 2 MIM#615342
Mendeliome v0.11641 SMAD9 Zornitza Stark Publications for gene: SMAD9 were set to
Mendeliome v0.11640 SMAD9 Zornitza Stark Mode of inheritance for gene: SMAD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11639 SMAD9 Zornitza Stark reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29844917, 21920918, 19211612, 21898662; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11639 SMAD7 Zornitza Stark Marked gene: SMAD7 as ready
Mendeliome v0.11639 SMAD7 Zornitza Stark Gene: smad7 has been classified as Red List (Low Evidence).
Mendeliome v0.11639 SMAD7 Zornitza Stark Phenotypes for gene: SMAD7 were changed from to {Colorectal cancer, susceptibility to, 3} 612229
Mendeliome v0.11638 SMAD7 Zornitza Stark Mode of inheritance for gene: SMAD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11637 SMAD7 Zornitza Stark Classified gene: SMAD7 as Red List (low evidence)
Mendeliome v0.11637 SMAD7 Zornitza Stark Gene: smad7 has been classified as Red List (Low Evidence).
Mendeliome v0.11636 SMAD7 Zornitza Stark edited their review of gene: SMAD7: Changed phenotypes: {Colorectal cancer, susceptibility to, 3} 612229
Mendeliome v0.11636 SMAD7 Zornitza Stark reviewed gene: SMAD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.11636 SMAD4 Zornitza Stark Marked gene: SMAD4 as ready
Mendeliome v0.11636 SMAD4 Zornitza Stark Gene: smad4 has been classified as Green List (High Evidence).
Mendeliome v0.11636 SMAD4 Zornitza Stark Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050; Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210
Mendeliome v0.11635 SMAD4 Zornitza Stark Publications for gene: SMAD4 were set to
Mendeliome v0.11634 SMAD4 Zornitza Stark Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11633 SMAD4 Zornitza Stark reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044, 15235019, 16613914, 20101697, 22158539, 22243968; Phenotypes: Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050, Polyposis, juvenile intestinal, MIM# 174900, Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11633 SLITRK6 Zornitza Stark Marked gene: SLITRK6 as ready
Mendeliome v0.11633 SLITRK6 Zornitza Stark Gene: slitrk6 has been classified as Green List (High Evidence).
Mendeliome v0.11633 SLITRK6 Zornitza Stark Phenotypes for gene: SLITRK6 were changed from to Deafness and myopia, MIM#221200
Mendeliome v0.11632 SLITRK6 Zornitza Stark Publications for gene: SLITRK6 were set to
Mendeliome v0.11631 SLITRK6 Zornitza Stark Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11630 SLITRK6 Zornitza Stark reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497, 23543054; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11630 SLITRK1 Zornitza Stark Marked gene: SLITRK1 as ready
Mendeliome v0.11630 SLITRK1 Zornitza Stark Gene: slitrk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11630 SLITRK1 Zornitza Stark Phenotypes for gene: SLITRK1 were changed from to Tourette syndrome, MIM# 137580
Mendeliome v0.11629 SLITRK1 Zornitza Stark Publications for gene: SLITRK1 were set to
Mendeliome v0.11628 SLITRK1 Zornitza Stark Mode of inheritance for gene: SLITRK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11627 SLITRK1 Zornitza Stark Classified gene: SLITRK1 as Red List (low evidence)
Mendeliome v0.11627 SLITRK1 Zornitza Stark Gene: slitrk1 has been classified as Red List (Low Evidence).
Mendeliome v0.11626 SLITRK1 Zornitza Stark Tag disputed tag was added to gene: SLITRK1.
Mendeliome v0.11626 SLITRK1 Zornitza Stark reviewed gene: SLITRK1: Rating: RED; Mode of pathogenicity: None; Publications: 17304708, 35140465, 26317387; Phenotypes: Tourette syndrome, MIM# 137580; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Marked gene: SLCO1B3 as ready
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Gene: slco1b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11626 SLCO1B3 Zornitza Stark Phenotypes for gene: SLCO1B3 were changed from to Hyperbilirubinemia, Rotor type, digenic, MIM# 237450
Mendeliome v0.11625 SLCO1B3 Zornitza Stark Publications for gene: SLCO1B3 were set to
Mendeliome v0.11624 SLCO1B1 Zornitza Stark Publications for gene: SLCO1B1 were set to 30250148; 24918167
Mendeliome v0.11623 SLCO1B1 Zornitza Stark Mode of inheritance for gene: SLCO1B1 was changed from Unknown to Other
Mendeliome v0.11622 SLCO1B1 Zornitza Stark Classified gene: SLCO1B1 as Amber List (moderate evidence)
Mendeliome v0.11622 SLCO1B1 Zornitza Stark Gene: slco1b1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11621 SLCO1B1 Zornitza Stark Deleted their comment
Mendeliome v0.11621 SLCO1B1 Zornitza Stark edited their review of gene: SLCO1B1: Added comment: Digenic inheritance proposed, with variants in SLCO1B3 also required.; Changed rating: AMBER; Changed publications: 33860121; Changed phenotypes: Hyperbilirubinemia, Rotor type, digenic 237450; Changed mode of inheritance: Other
Mendeliome v0.11621 SLCO1B3 Zornitza Stark Mode of inheritance for gene: SLCO1B3 was changed from Unknown to Other
Mendeliome v0.11620 SLCO1B3 Zornitza Stark Classified gene: SLCO1B3 as Amber List (moderate evidence)
Mendeliome v0.11620 SLCO1B3 Zornitza Stark Gene: slco1b3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11619 SLCO1B3 Zornitza Stark reviewed gene: SLCO1B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33860121; Phenotypes: Hyperbilirubinemia, Rotor type, digenic, MIM# 237450; Mode of inheritance: Other
Mendeliome v0.11619 SLC9A9 Zornitza Stark Marked gene: SLC9A9 as ready
Mendeliome v0.11619 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Mendeliome v0.11619 SLC9A9 Zornitza Stark Phenotypes for gene: SLC9A9 were changed from to Autism susceptibility 16, MIM# 613410
Mendeliome v0.11618 SLC9A9 Zornitza Stark Publications for gene: SLC9A9 were set to
Mendeliome v0.11617 SLC9A9 Zornitza Stark Mode of inheritance for gene: SLC9A9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11616 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Mendeliome v0.11616 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Autism v0.175 SLC9A9 Zornitza Stark Classified gene: SLC9A9 as Red List (low evidence)
Autism v0.175 SLC9A9 Zornitza Stark Gene: slc9a9 has been classified as Red List (Low Evidence).
Autism v0.174 SLC9A9 Zornitza Stark changed review comment from: Several families and animal model data.
Sources: Expert list; to: DISPUTED by ClinGen:

SLC9A9 was first reported in relation to autism spectrum disorder in 2008 (Morrow et al., 2008 PMID: 18621663). A homozygous deletion upstream of SLC9A9 (also known as NHE9) as well as several heterozygous variants (one nonsense and several missense) were reported in this gene; the sequence variants were later found to have high population frequencies in gnomAD.

According to gnomAD (v.2.1.1), SLC9A9 is not constrained for loss of function variants (pLI=0) or missense variants (z-score=-0.25).

Previously, a pericentric inversion of chromosome 3 disrupting SLC9A9 was reported in an extended pedigree with intellectual disability and behavioral problems (PMID: 14569117). The other inversion breakpoint affected DOCK3, a brain-expressed gene involved in neurodevelopmental disorders, and the inversion did not always segregate with the phenotype, therefore this family was not scored. An inherited exonic deletion of SLC9A9 is reported in an individual with autism spectrum disorder and epilepsy (PMID: 27123481). Two nonsense variants in individuals with autism spectrum disorder, including one reported several times in gnomAD are reported in PMID: 26185613.

Overall, variants are inherited and/or at high pop frequency, not consistent with Mendelian disease.
Autism v0.174 SLC9A9 Zornitza Stark edited their review of gene: SLC9A9: Changed rating: RED
Mendeliome v0.11615 SLC9A9 Zornitza Stark reviewed gene: SLC9A9: Rating: RED; Mode of pathogenicity: None; Publications: 18621663, 14569117, 27123481, 26185613; Phenotypes: Autism susceptibility 16, MIM# 613410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11615 SLC7A9 Zornitza Stark Marked gene: SLC7A9 as ready
Mendeliome v0.11615 SLC7A9 Zornitza Stark Gene: slc7a9 has been classified as Green List (High Evidence).
Mendeliome v0.11615 SLC7A9 Zornitza Stark Phenotypes for gene: SLC7A9 were changed from to Cystinuria, MIM# 220100
Mendeliome v0.11614 SLC7A9 Zornitza Stark Publications for gene: SLC7A9 were set to
Mendeliome v0.11613 SLC7A9 Zornitza Stark Mode of inheritance for gene: SLC7A9 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11612 SLC7A9 Zornitza Stark reviewed gene: SLC7A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 10471498; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11612 SLC6A9 Zornitza Stark Marked gene: SLC6A9 as ready
Mendeliome v0.11612 SLC6A9 Zornitza Stark Gene: slc6a9 has been classified as Green List (High Evidence).
Mendeliome v0.11612 SLC6A9 Zornitza Stark Phenotypes for gene: SLC6A9 were changed from to Glycine encephalopathy with normal serum glycine, MIM# 617301
Mendeliome v0.11611 SLC6A9 Zornitza Stark Publications for gene: SLC6A9 were set to
Mendeliome v0.11610 SLC6A9 Zornitza Stark Mode of inheritance for gene: SLC6A9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A9 Zornitza Stark reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27481395, 27773429, 14622582, 33269555; Phenotypes: Glycine encephalopathy with normal serum glycine, MIM# 617301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11609 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Mendeliome v0.11609 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Mendeliome v0.11609 SLC6A8 Zornitza Stark Phenotypes for gene: SLC6A8 were changed from to Cerebral creatine deficiency syndrome 1, MIM# 300352
Mendeliome v0.11608 SLC6A8 Zornitza Stark Publications for gene: SLC6A8 were set to
Mendeliome v0.11607 SLC6A8 Zornitza Stark Mode of inheritance for gene: SLC6A8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11606 ENPP1 Zornitza Stark Phenotypes for gene: ENPP1 were changed from to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312
Mendeliome v0.11605 ENPP1 Zornitza Stark Publications for gene: ENPP1 were set to
Mendeliome v0.11604 ENPP1 Zornitza Stark Mode of inheritance for gene: ENPP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11603 ENPP1 Zornitza Stark reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24075184, 26617416, 28964717, 32598042, 35220637, 12881724, 15605415, 33005041, 20016754, 20137773, 20137772; Phenotypes: Arterial calcification, generalized, of infancy, 1, MIM# 208000, Cole disease, MIM# 615522, Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11603 VMA21 Zornitza Stark Marked gene: VMA21 as ready
Mendeliome v0.11603 VMA21 Zornitza Stark Gene: vma21 has been classified as Green List (High Evidence).
Mendeliome v0.11603 VMA21 Zornitza Stark Phenotypes for gene: VMA21 were changed from to Myopathy, X-linked, with excessive autophagy, MIM# 310440
Mendeliome v0.11602 VMA21 Zornitza Stark Publications for gene: VMA21 were set to
Mendeliome v0.11601 VMA21 Zornitza Stark Mode of inheritance for gene: VMA21 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11600 VMA21 Zornitza Stark Tag deep intronic tag was added to gene: VMA21.
Mendeliome v0.11600 VMA21 Zornitza Stark reviewed gene: VMA21: Rating: GREEN; Mode of pathogenicity: None; Publications: 27916343, 25809233, 23315026; Phenotypes: Myopathy, X-linked, with excessive autophagy, MIM# 310440; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.11600 VPS33B Zornitza Stark Marked gene: VPS33B as ready
Mendeliome v0.11600 VPS33B Zornitza Stark Gene: vps33b has been classified as Green List (High Evidence).
Mendeliome v0.11600 VPS33B Zornitza Stark Phenotypes for gene: VPS33B were changed from to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)
Mendeliome v0.11599 VPS33B Zornitza Stark Publications for gene: VPS33B were set to
Mendeliome v0.11598 VPS33B Zornitza Stark Mode of inheritance for gene: VPS33B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11597 VPS33B Zornitza Stark reviewed gene: VPS33B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31240160, 31777725, 24415890, 15052268; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Marked gene: VPS35 as ready
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Gene: vps35 has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.123 VPS35 Zornitza Stark Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203
Early-onset Parkinson disease v0.122 VPS35 Zornitza Stark Publications for gene: VPS35 were set to
Early-onset Parkinson disease v0.121 VPS35 Zornitza Stark Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early-onset Parkinson disease v0.120 VPS35 Zornitza Stark reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: None; Publications: 21763482, 21763483, 22801713, 34704029; Phenotypes: Parkinson disease 17, MIM# 614203; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11597 VPS35 Zornitza Stark Marked gene: VPS35 as ready
Mendeliome v0.11597 VPS35 Zornitza Stark Gene: vps35 has been classified as Green List (High Evidence).
Mendeliome v0.11597 VPS35 Zornitza Stark Phenotypes for gene: VPS35 were changed from to Parkinson disease 17, MIM# 614203
Mendeliome v0.11596 VPS35 Zornitza Stark Publications for gene: VPS35 were set to
Mendeliome v0.11595 VPS35 Zornitza Stark Mode of inheritance for gene: VPS35 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11594 VPS35 Zornitza Stark edited their review of gene: VPS35: Changed rating: GREEN
Mendeliome v0.11594 VPS35 Zornitza Stark reviewed gene: VPS35: Rating: ; Mode of pathogenicity: None; Publications: 21763482, 21763483, 22801713, 34704029; Phenotypes: Parkinson disease 17, MIM# 614203; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11594 VSX1 Zornitza Stark Marked gene: VSX1 as ready
Mendeliome v0.11594 VSX1 Zornitza Stark Gene: vsx1 has been classified as Amber List (Moderate Evidence).
Corneal Dystrophy v1.7 VSX1 Zornitza Stark Publications for gene: VSX1 were set to
Corneal Dystrophy v1.6 VSX1 Zornitza Stark Classified gene: VSX1 as Amber List (moderate evidence)
Corneal Dystrophy v1.6 VSX1 Zornitza Stark Gene: vsx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11594 VSX1 Zornitza Stark Phenotypes for gene: VSX1 were changed from to Keratoconus 1, MIM# 148300
Corneal Dystrophy v1.5 VSX1 Zornitza Stark changed review comment from: Keratoconus is a corneal dystrophy.; to: Keratoconus is a corneal dystrophy. Some of the variants reported have a high population frequency, more consistent with a risk allele rather than a Mendelian gene-disease association.
Corneal Dystrophy v1.5 VSX1 Zornitza Stark edited their review of gene: VSX1: Changed rating: AMBER; Changed publications: 11978762, 35296157, 30574758, 30535423, 25963163
Mendeliome v0.11593 VSX1 Zornitza Stark Publications for gene: VSX1 were set to
Mendeliome v0.11592 VSX1 Zornitza Stark Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11591 VSX1 Zornitza Stark Classified gene: VSX1 as Amber List (moderate evidence)
Mendeliome v0.11591 VSX1 Zornitza Stark Gene: vsx1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11590 VSX1 Zornitza Stark reviewed gene: VSX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 11978762, 35296157, 30574758, 30535423, 25963163; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11590 VWF Zornitza Stark Marked gene: VWF as ready
Mendeliome v0.11590 VWF Zornitza Stark Gene: vwf has been classified as Green List (High Evidence).
Mendeliome v0.11590 VWF Zornitza Stark Phenotypes for gene: VWF were changed from to von Willebrand disease, type 1, MIM# 193400; von Willebrand disease, type 3 , MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554
Mendeliome v0.11589 VWF Zornitza Stark Mode of inheritance for gene: VWF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11588 VWF Zornitza Stark reviewed gene: VWF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: von Willebrand disease, type 1, MIM# 193400, von Willebrand disease, type 3 , MIM#277480, von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM# 613554; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11588 VKORC1 Zornitza Stark Marked gene: VKORC1 as ready
Mendeliome v0.11588 VKORC1 Zornitza Stark Gene: vkorc1 has been classified as Green List (High Evidence).
Mendeliome v0.11588 VKORC1 Zornitza Stark Phenotypes for gene: VKORC1 were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473; Warfarin resistance, MIM# 122700
Mendeliome v0.11587 VKORC1 Zornitza Stark Publications for gene: VKORC1 were set to
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Arthrogryposis v0.332 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.331 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Arthrogryposis v0.330 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Arthrogryposis v0.329 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.328 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11586 VIPAS39 Zornitza Stark Marked gene: VIPAS39 as ready
Mendeliome v0.11586 VIPAS39 Zornitza Stark Gene: vipas39 has been classified as Green List (High Evidence).
Mendeliome v0.11586 VIPAS39 Zornitza Stark Phenotypes for gene: VIPAS39 were changed from to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404
Mendeliome v0.11585 VIPAS39 Zornitza Stark Publications for gene: VIPAS39 were set to
Mendeliome v0.11584 VIPAS39 Zornitza Stark Mode of inheritance for gene: VIPAS39 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11583 VIPAS39 Zornitza Stark reviewed gene: VIPAS39: Rating: GREEN; Mode of pathogenicity: None; Publications: 20190753, 35151346; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11583 VEGFA Zornitza Stark Marked gene: VEGFA as ready
Mendeliome v0.11583 VEGFA Zornitza Stark Gene: vegfa has been classified as Red List (Low Evidence).
Mendeliome v0.11583 VEGFA Zornitza Stark Phenotypes for gene: VEGFA were changed from to {Microvascular complications of diabetes 1} 603933
Mendeliome v0.11582 VEGFA Zornitza Stark Classified gene: VEGFA as Red List (low evidence)
Mendeliome v0.11582 VEGFA Zornitza Stark Gene: vegfa has been classified as Red List (Low Evidence).
Mendeliome v0.11581 VEGFA Zornitza Stark reviewed gene: VEGFA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Microvascular complications of diabetes 1} 603933; Mode of inheritance: None
Mendeliome v0.11581 VDR Zornitza Stark Marked gene: VDR as ready
Mendeliome v0.11581 VDR Zornitza Stark Gene: vdr has been classified as Green List (High Evidence).
Mendeliome v0.11581 VDR Zornitza Stark Phenotypes for gene: VDR were changed from to Rickets, vitamin D-resistant, type IIA, MIM# 277440
Mendeliome v0.11580 VDR Zornitza Stark Publications for gene: VDR were set to
Mendeliome v0.11579 VDR Zornitza Stark Mode of inheritance for gene: VDR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11578 VDR Zornitza Stark reviewed gene: VDR: Rating: GREEN; Mode of pathogenicity: None; Publications: 2849209, 9005998, 17970811; Phenotypes: Rickets, vitamin D-resistant, type IIA, MIM# 277440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11578 VCL Zornitza Stark Marked gene: VCL as ready
Mendeliome v0.11578 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Mendeliome v0.11578 VCL Zornitza Stark Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407
Mendeliome v0.11577 VCL Zornitza Stark Publications for gene: VCL were set to
Mendeliome v0.11576 VCL Zornitza Stark Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11575 VCL Zornitza Stark reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437, 17097056; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11575 VANGL2 Zornitza Stark Marked gene: VANGL2 as ready
Mendeliome v0.11575 VANGL2 Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence).
Mendeliome v0.11575 VANGL2 Zornitza Stark Phenotypes for gene: VANGL2 were changed from to Neural tube defects, MIM# 182940
Mendeliome v0.11574 VANGL2 Zornitza Stark Publications for gene: VANGL2 were set to
Mendeliome v0.11573 VANGL2 Zornitza Stark Mode of inheritance for gene: VANGL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11572 VANGL2 Zornitza Stark Classified gene: VANGL2 as Red List (low evidence)
Mendeliome v0.11572 VANGL2 Zornitza Stark Gene: vangl2 has been classified as Red List (Low Evidence).
Mendeliome v0.11571 VANGL2 Zornitza Stark reviewed gene: VANGL2: Rating: RED; Mode of pathogenicity: None; Publications: 20558380, 20738329, 34842271; Phenotypes: Neural tube defects, MIM# 182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11571 VANGL1 Zornitza Stark Marked gene: VANGL1 as ready
Mendeliome v0.11571 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Mendeliome v0.11571 VANGL1 Zornitza Stark Phenotypes for gene: VANGL1 were changed from to Caudal regression syndrome, MIM# 600145; {Neural tube defects, susceptibility to} 182940
Mendeliome v0.11570 VANGL1 Zornitza Stark Publications for gene: VANGL1 were set to
Mendeliome v0.11569 VANGL1 Zornitza Stark Mode of inheritance for gene: VANGL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11568 VANGL1 Zornitza Stark Classified gene: VANGL1 as Red List (low evidence)
Mendeliome v0.11568 VANGL1 Zornitza Stark Gene: vangl1 has been classified as Red List (Low Evidence).
Mendeliome v0.11567 VANGL1 Zornitza Stark reviewed gene: VANGL1: Rating: RED; Mode of pathogenicity: None; Publications: 17409324; Phenotypes: Caudal regression syndrome, MIM# 600145, {Neural tube defects, susceptibility to} 182940; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.433 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Regression v0.433 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.433 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from to Spastic ataxia 1, autosomal dominant, MIM# 108600
Regression v0.432 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Regression v0.431 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.430 VAMP1 Zornitza Stark Classified gene: VAMP1 as Red List (low evidence)
Regression v0.430 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Red List (Low Evidence).
Regression v0.429 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: None; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11567 VAMP1 Zornitza Stark Marked gene: VAMP1 as ready
Mendeliome v0.11567 VAMP1 Zornitza Stark Gene: vamp1 has been classified as Green List (High Evidence).
Mendeliome v0.11567 VAMP1 Zornitza Stark Phenotypes for gene: VAMP1 were changed from to Myasthenic syndrome, congenital, 25, MIM# 618323; Spastic ataxia 1, autosomal dominant, MIM# 108600
Mendeliome v0.11566 VAMP1 Zornitza Stark Publications for gene: VAMP1 were set to
Mendeliome v0.11565 VAMP1 Zornitza Stark Mode of inheritance for gene: VAMP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11564 VAMP1 Zornitza Stark Tag founder tag was added to gene: VAMP1.
Mendeliome v0.11564 VAMP1 Zornitza Stark reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28168212, 28253535, 28600779, 17102983, 22958904; Phenotypes: Myasthenic syndrome, congenital, 25, MIM# 618323, Spastic ataxia 1, autosomal dominant, MIM# 108600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11564 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mendeliome v0.11564 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mendeliome v0.11564 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mendeliome v0.11563 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mendeliome v0.11562 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mitochondrial disease v0.732 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Marked gene: NDUFAF7 as ready
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mendeliome v0.11561 NDUFAF7 Zornitza Stark Phenotypes for gene: NDUFAF7 were changed from to Pathologic myopia
Mendeliome v0.11560 NDUFAF7 Zornitza Stark Publications for gene: NDUFAF7 were set to
Mendeliome v0.11559 NDUFAF7 Zornitza Stark Mode of inheritance for gene: NDUFAF7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.11558 NDUFAF7 Zornitza Stark Classified gene: NDUFAF7 as Red List (low evidence)
Mendeliome v0.11558 NDUFAF7 Zornitza Stark Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mendeliome v0.11557 FRA10AC1 Zornitza Stark Phenotypes for gene: FRA10AC1 were changed from to Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related
Mendeliome v0.11556 FRA10AC1 Zornitza Stark Publications for gene: FRA10AC1 were set to 15203205
Mendeliome v0.11555 FRA10AC1 Zornitza Stark Mode of inheritance for gene: FRA10AC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.128 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v0.127 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v0.126 NDUFAF4 Zornitza Stark reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.429 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Regression v0.429 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Regression v0.429 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Regression v0.428 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Regression v0.427 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.426 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Amber List (moderate evidence)
Regression v0.426 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Amber List (Moderate Evidence).
Callosome v0.391 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Callosome v0.391 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Callosome v0.391 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Callosome v0.390 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Callosome v0.389 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.388 NDUFAF4 Zornitza Stark Classified gene: NDUFAF4 as Red List (low evidence)
Callosome v0.388 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mitochondrial disease v0.729 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mitochondrial disease v0.728 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mendeliome v0.11554 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mendeliome v0.11553 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mendeliome v0.11552 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.425 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Regression v0.425 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Regression v0.425 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Regression v0.424 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Regression v0.423 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.387 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Callosome v0.387 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Callosome v0.387 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Callosome v0.386 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Callosome v0.385 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.384 NDUFAF3 Zornitza Stark Classified gene: NDUFAF3 as Amber List (moderate evidence)
Callosome v0.384 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Amber List (Moderate Evidence).
Desmosomal disorders v0.21 EDARADD Bryony Thompson Phenotypes for gene: EDARADD were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Desmosomal disorders v0.20 EDARADD Bryony Thompson Publications for gene: EDARADD were set to
Desmosomal disorders v0.19 EDARADD Bryony Thompson Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Desmosomal disorders v0.18 EDAR Bryony Thompson Marked gene: EDAR as ready
Desmosomal disorders v0.18 EDAR Bryony Thompson Gene: edar has been classified as Green List (High Evidence).
Desmosomal disorders v0.18 EDAR Bryony Thompson Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Desmosomal disorders v0.17 EDAR Bryony Thompson Publications for gene: EDAR were set to 10431241; 20301291; 16435307; 20979233; 23401279; 18384562
Desmosomal disorders v0.17 EDAR Bryony Thompson Publications for gene: EDAR were set to
Desmosomal disorders v0.16 EDAR Bryony Thompson Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Desmosomal disorders v0.15 EDA Bryony Thompson Marked gene: EDA as ready
Desmosomal disorders v0.15 EDA Bryony Thompson Gene: eda has been classified as Green List (High Evidence).
Desmosomal disorders v0.15 EDA Bryony Thompson Phenotypes for gene: EDA were changed from to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Desmosomal disorders v0.14 EDA Bryony Thompson Publications for gene: EDA were set to
Desmosomal disorders v0.13 EDA Bryony Thompson Mode of inheritance for gene: EDA was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Desmosomal disorders v0.12 DSG1 Bryony Thompson Marked gene: DSG1 as ready
Desmosomal disorders v0.12 DSG1 Bryony Thompson Gene: dsg1 has been classified as Green List (High Evidence).
Desmosomal disorders v0.12 DSG1 Bryony Thompson Phenotypes for gene: DSG1 were changed from to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)
Desmosomal disorders v0.11 DSG1 Bryony Thompson Publications for gene: DSG1 were set to
Desmosomal disorders v0.10 DSG1 Bryony Thompson Mode of inheritance for gene: DSG1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.11551 EDARADD Bryony Thompson Marked gene: EDARADD as ready
Mendeliome v0.11551 EDARADD Bryony Thompson Gene: edaradd has been classified as Green List (High Evidence).
Mendeliome v0.11551 EDARADD Bryony Thompson Mode of inheritance for gene: EDARADD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11550 EDARADD Bryony Thompson reviewed gene: EDARADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301291, 34219261, 11780064, 26991760, 34573371, 20979233, 17354266, 26440664; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11550 EDAR Bryony Thompson Marked gene: EDAR as ready
Mendeliome v0.11550 EDAR Bryony Thompson Gene: edar has been classified as Green List (High Evidence).
Mendeliome v0.11550 EDAR Bryony Thompson Phenotypes for gene: EDAR were changed from to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619
Mendeliome v0.11549 EDAR Bryony Thompson Publications for gene: EDAR were set to
Mendeliome v0.11548 EDAR Bryony Thompson Mode of inheritance for gene: EDAR was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.11547 EDAR Bryony Thompson reviewed gene: EDAR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10431241, 20301291, 16435307, 20979233, 23401279, 18384562; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mendeliome v0.11547 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mendeliome v0.11546 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mendeliome v0.11545 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mitochondrial disease v0.726 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mitochondrial disease v0.725 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Leukodystrophy - paediatric v0.246 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Leukodystrophy - paediatric v0.246 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Leukodystrophy - paediatric v0.246 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Leukodystrophy - paediatric v0.245 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from ?Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy to Mitochondrial complex I deficiency, nuclear type 13 618235; leukoencephalopathy
Regression v0.422 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Regression v0.422 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Regression v0.422 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Regression v0.421 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Regression v0.420 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.383 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Callosome v0.383 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Callosome v0.383 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Callosome v0.382 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Callosome v0.381 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFA2 Zornitza Stark reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mitochondrial disease v0.723 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mitochondrial disease v0.722 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1492 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235 to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000
Genetic Epilepsy v0.1491 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000 to Leigh syndrome due to mitochondrial complex I deficiency, MIM#256000; Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Genetic Epilepsy v0.1491 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to 28857146; 18513682
Microcephaly v1.117 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Microcephaly v1.117 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Microcephaly v1.117 NDUFA2 Zornitza Stark Classified gene: NDUFA2 as Amber List (moderate evidence)
Microcephaly v1.117 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.11544 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mendeliome v0.11544 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mendeliome v0.11544 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mendeliome v0.11543 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mendeliome v0.11542 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11541 NDUFB8 Krithika Murali reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFB8 Krithika Murali reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11541 NDUFAF7 Krithika Murali reviewed gene: NDUFAF7: Rating: RED; Mode of pathogenicity: None; Publications: 28837730; Phenotypes: Pathologic myopia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Regression v0.419 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with recurrent decompensation episodes.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic; to: 3 unrelated families reported with patient-specific functional evidence provided for each. Regression noted in one reported patient. Other reported family had two siblings unwell from birth with a relatively fulminant course. Another large family reported with fulminant neonatal course / longer-term survivors having recurrent decompensation episodes.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Regression v0.419 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: None; Publications: 32949790, 28853723, 18179882; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF4 Krithika Murali changed review comment from: Brain anomalies noted but not involving corpus callosum.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: Brain anomalies noted but not involving corpus callosum.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: 3 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect.

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Mendeliome v0.11541 FRA10AC1 Ain Roesley Classified gene: FRA10AC1 as Green List (high evidence)
Mendeliome v0.11541 FRA10AC1 Ain Roesley Gene: fra10ac1 has been classified as Green List (High Evidence).
Mendeliome v0.11540 NDUFAF4 Krithika Murali Deleted their comment
Mendeliome v0.11540 NDUFAF4 Krithika Murali edited their review of gene: NDUFAF4: Added comment: 3 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID.; Changed publications: 32949790, 28853723, 18179882
Callosome v0.380 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: RED; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11540 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11540 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.419 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11540 UBA5 Zornitza Stark Marked gene: UBA5 as ready
Mendeliome v0.11540 UBA5 Zornitza Stark Gene: uba5 has been classified as Green List (High Evidence).
Mendeliome v0.11540 UBA5 Zornitza Stark Phenotypes for gene: UBA5 were changed from to Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133; Epileptic encephalopathy, early infantile, 44 617132; Hypomyelinating neuropathy
Mendeliome v0.11539 UBA5 Zornitza Stark Publications for gene: UBA5 were set to
Mendeliome v0.11538 UBA5 Zornitza Stark Mode of inheritance for gene: UBA5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11537 UBA5 Zornitza Stark changed review comment from: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.; to: Bi-allelic variants in UBA5 cause a range of neurological phenotypes. Ataxia has been specifically described only in one sibling pair. Multiple individuals reported with a more severe EE/ID phenotype, and non-specific movement disorders.

Also note these two reports of demyelinating peripheral neuropathy: 26872069 pair of sibs with mild ataxia, one with neuropathy; 32179706 five individuals from a consanguineous family presenting in infancy with severe fatal neuropathy. Some functional data. Due to early mortality, uncertain at present whether additional features would have developed.
Mendeliome v0.11537 UBA5 Zornitza Stark edited their review of gene: UBA5: Changed rating: GREEN; Changed publications: 26872069, 27545681, 27545674, 32179706, 26872069; Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 24, MIM# 617133, Epileptic encephalopathy, early infantile, 44 617132, Hypomyelinating neuropathy
Mitochondrial disease v0.721 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.116 NDUFA2 Krithika Murali gene: NDUFA2 was added
gene: NDUFA2 was added to Microcephaly. Sources: Literature
Mode of inheritance for gene: NDUFA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA2 were set to 28857146; 32154054; 18513682
Phenotypes for gene: NDUFA2 were set to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Review for gene: NDUFA2 was set to AMBER
Added comment: 4 unrelated patients reported in the published literature. 2 reported to have postnatal-onset microcephaly.

PMID 28857146 - report 2 unrelated patients with cystic leukoencephalopathy.

Patient 1 - born at term, unremarkable antenatal history. Presented at 8 months with encephalopathy, hepatomegaly, hyperammonemia. Exhibited developmental regression until 12 months of age and also had moderate ID, dystonia, spasticity and focal epilepsy. Initially had homozygous SLC22A5 variant associated with primary carnitine deficiency. MRI-B age 2 showed white matter + cystic changes and corpus callosum anomalies. Complex 1 deficiency suspected based on white matter anomalies. Patient-derived fibroblasts showed decrease in complex 1 enzyme activity. WES identified homozygous NDUFA2 variant with parental testing confirming carrier status.

Patient 2 - compound het NDUFA2 variants. Phenotypic features include - failure to thrive, developmental regression, upper motor neuron signs, white matter abnormalities + cystic changes on MRI-Brain, severe GDD and microcephaly.

PMID: 32154054 - report a patient with developmental regression and postnatal onset progressive microcephaly. Other features included UMN signs, spastic equinovarus deformity of the feet. At age 4 developed generalised seizures in context of VZV infection. Abnormal MRI-B including white matter changes, bilateral cavitating lesions and corpus callosum anomalies. Homozygous NDUFA2 variant identified.

PMID: 18513682 - report a patient with an isolated complex I deficiency expressed in skin fibroblasts as well as muscle tissue. Normal antenatal course reported - D5 of life diagnosed with hypertrophic cardiomyopathy was diagnosed. Other phenotypic features included developmental delay, regression, MRI anomalies (cerebral atrophy, hypoplasia corpus callosum), seizures.
Sources: Literature
Regression v0.419 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.380 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1490 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11537 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.11537 KANSL1 Zornitza Stark Marked gene: KANSL1 as ready
Mendeliome v0.11537 KANSL1 Zornitza Stark Gene: kansl1 has been classified as Green List (High Evidence).
Mendeliome v0.11537 IKBKG Zornitza Stark Tag SV/CNV tag was added to gene: IKBKG.
Mendeliome v0.11537 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Mendeliome v0.11537 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Mendeliome v0.11537 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300
Mendeliome v0.11536 IKBKG Zornitza Stark Mode of inheritance for gene: IKBKG was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)