Hereditary ataxia with onset in adulthood
Gene: GOSR2
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.
Variants associated with the myoclonic epilepsy and ataxia phenotype are predominantely linked to a single homozygous variant - p.Gly144Trp. Good functional evidence for variant in the literatureCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progressive myoclonic epilepsy 6, 614018
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Progressive myoclonic epilepsy 6, 614018 for gene: GOSR2
Source NHS GMS was added to GOSR2.
Source Wessex and West Midlands GLH was added to GOSR2.
Checked panel against panel constituents. Ready to promote to version 1.
gene: GOSR2 was added gene: GOSR2 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Green Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GOSR2 were set to 24285620; 20301317; 21549339 Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018