Ataxia and cerebellar anomalies - narrow panelGene: ISPD
Added new-gene-name tag, new approved HGNC gene symbol for ISPD is CRPPA
Created: 28 Jan 2019, 4:24 p.m.
Tag new-gene-name tag was added to gene: ISPD.
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: ISPD was added gene: ISPD was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ISPD were set to 22522420 Phenotypes for gene: ISPD were set to Congenital Muscular Dystrophy, alpha-dystroglycan related; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type