Hereditary ataxia with onset in adulthood
Gene: CSTB
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
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 reports in the literature, ataxia common part of phenotypeCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 1A, 254800
Tag nucleotide-repeat-expansion tag was added to gene: CSTB.
Phenotypes for gene: CSTB were changed from Progressive myoclonic epilepsy 1A, 254800; Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800
Gene: cstb has been classified as Green List (High Evidence).
Source London North GMS was added to CSTB.
Added phenotypes Progressive myoclonic epilepsy 1A, 254800 for gene: CSTB
Source NHS GMS was added to CSTB.
Source Wessex and West Midlands GLH was added to CSTB.
Louise Daugherty: Comment on phenotypes: Implica
gene: CSTB was added gene: CSTB was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800