Congenital muscular dystrophyGene: GOSR2
GOSR2 is associated with epilepsy in OMIM but no phenotypes in Gene2Phenotype. PMID: 29855340 reported on 2 siblings from a family who have muscular dystrophy who have compound heterozygous variants in the GOSR2 gene. There does not appear to be any relevant animal models. Therefore, this gene should remain red until more evidence is available to support a gene-disease association.
Created: 6 Aug 2019, 2:35 p.m. | Last Modified: 6 Aug 2019, 2:35 p.m.
Panel Version: 1.51
Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Publications for gene: GOSR2 were set to
Phenotypes for gene: GOSR2 were changed from to Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source NHS GMS was added to GOSR2.
gene: GOSR2 was added gene: GOSR2 was added to Congenital muscular dystrophy. Sources: London South GLH Mode of inheritance for gene: GOSR2 was set to