Hereditary ataxia with onset in adulthood
Gene: KCNA2
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.
Multiple cases reported in the literature, ataxia part of listed phenotype in OMIMCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Early infantile encephalopathy 32, 616366
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Mode of inheritance for gene: KCNA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: kcna2 has been classified as Green List (High Evidence).
Mode of pathogenicity for gene: KCNA2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Early infantile encephalopathy 32, 616366 for gene: KCNA2
Source NHS GMS was added to KCNA2.
gene: KCNA2 was added gene: KCNA2 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: KCNA2 was set to