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Ataxia and cerebellar anomalies - narrow panel v3.30 | SNX14 | Eleanor Williams Tag Q3_21_MOI was removed from gene: SNX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.30 | SNX14 | Eleanor Williams commented on gene: SNX14 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v3.29 | SNX14 |
Eleanor Williams Source NHS GMS was added to SNX14. Mode of inheritance for gene SNX14 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal |
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Ataxia and cerebellar anomalies - narrow panel v2.226 | SNX14 | Ivone Leong Tag Q3_21_MOI tag was added to gene: SNX14. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v2.226 | SNX14 | Ivone Leong reviewed gene: SNX14: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ataxia and cerebellar anomalies - narrow panel v0.5 | SNX14 |
Ellen McDonagh Added phenotypes Spinocerebellar ataxia, autosomal recessive 20, 616354 for gene: SNX14 Publications for gene SNX14 were changed from to 25439728 |
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Ataxia and cerebellar anomalies - narrow panel v0.5 | SNX14 |
Ellen McDonagh gene: SNX14 was added gene: SNX14 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SNX14 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354) |