Activity
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | ITPR1 |
Ellen McDonagh Mode of pathogenicity for gene ITPR1 was changed from to Other - please provide details in the comments Added phenotypes Spinocerebellar ataxia 29; Spinocerebellar ataxia 15 for gene: ITPR1 |
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| Ataxia and cerebellar anomalies - narrow panel v0.5 | ITPR1 |
Ellen McDonagh gene: ITPR1 was added gene: ITPR1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ITPR1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ITPR1 were set to Gillespie syndrome 206700; Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive |
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