Ataxia and cerebellar anomalies - narrow panelGene: CYP27A1
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis, 213700
gene: CYP27A1 was added gene: CYP27A1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal