Hereditary ataxiaGene: CHMP1A
Fine. PCH8, reasonable evidence in lit
Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pontocerebellar hypoplasia 8 (#614961)
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
This gene has been classified as Green List (High Evidence).
CHMP1A was created by jonathan.williams
CHMP1A was added to Hereditary ataxiapanel. Sources: Expert Review