Ataxia and cerebellar anomalies - narrow panelGene: ITPR1
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
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
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