Hereditary ataxia with onset in adulthood
Gene: UBA5
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.
Plenty of evidence in literature for EIEE, only a single family with compound heterozygous variants (plus functional evidence) for SCAR; however both phenotypes have cerebellar abnormalities listed as part of syndrome in OMIM. Happy for GreenCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early infantile epileptic encephalopathy 44, 617132, Autosomal recessive spinocerebellar ataxia 24, 617133
Gene: uba5 has been classified as Green List (High Evidence).
Mode of inheritance for gene: UBA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Early infantile epileptic encephalopathy 44, 617132; Autosomal recessive spinocerebellar ataxia 24, 617133 for gene: UBA5
Source NHS GMS was added to UBA5.
gene: UBA5 was added gene: UBA5 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: UBA5 was set to