Ataxia and cerebellar anomalies - narrow panelGene: NPC1
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: NPC1 was added gene: NPC1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)