Congenital muscular dystrophy

Gene: GOSR2

Red List (low evidence)

GOSR2 (golgi SNAP receptor complex member 2)
EnsemblGeneIds (GRCh38): ENSG00000108433
EnsemblGeneIds (GRCh37): ENSG00000108433
OMIM: 604027, Gene2Phenotype
GOSR2 is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan

Publications

History Filter Activity

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: GOSR2 were set to

29 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GOSR2 were changed from to Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan

29 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: GOSR2 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GOSR2.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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