Hereditary ataxia with onset in adulthood
Gene: COASY
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Enough evidence for both phenotypes (both associated with either ataxic gait and/or cerebellar abnormalities). For PCH12 have two families but functional evidence in form of undetectable COASY protein and enzyme activityCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodegeneration with brain iron accumulation 6, 615643, Pontocerebellar hypoplasia type 12, 618266
Publications for gene: COASY were set to
Mode of inheritance for gene: COASY was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: coasy has been classified as Green List (High Evidence).
Added phenotypes Pontocerebellar hypoplasia type 12, 618266; Neurodegeneration with brain iron accumulation 6, 615643 for gene: COASY
Source NHS GMS was added to COASY.
gene: COASY was added gene: COASY was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: COASY was set to