Ataxia and cerebellar anomalies - narrow panelGene: ABHD12
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ABHD12 was added gene: ABHD12 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract