Congenital muscular dystrophy
Gene: GOSR2
This gene has been implicated in multiple cases of congenital onset muscular dystrophy with raised CK and also evidence of reduced alpha-dystroglycan on muscle pathology.Created: 24 Mar 2023, 1:41 p.m. | Last Modified: 24 Mar 2023, 1:41 p.m.
Panel Version: 4.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
congenital muscular dystrophy with secondary alpha-dystroglycanopathy
Publications
Mode of pathogenicity
Other
Comment on classification of this gene: As reviewed by Zornitza Stark, the rating for this gene should be GREEN. This gene has been implicated in muscular dystrophy, as identified from biallelic variants from five cases from four unrelated families.
All these patients were reported with high creatine kinase (CK) levels and myopathy. Three individuals from two different families displayed congenital hypotonia (PMID:29855340; PMID:33639315), while another individual displayed mild hypotonia (https://doi.org/10.1016/j.nmd.2013.06.404).
Although GOSR2 has already been associated with progressive myoclonic epilepsy 6 (MIM# 614018) in OMIM, it has not yet been associated with congenital muscular dystrophy in OMIM or in Gene2Phenotype. This association has only recently been made in scientific literature.Created: 12 Dec 2022, 5:28 p.m. | Last Modified: 12 Dec 2022, 5:28 p.m.
Panel Version: 3.5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Publications
5 cases from 4 unrelated families with muscular involvement and PME phenotype. All cases had a missense/leaky splice variant with a predicted loss of function variant
PMID: 34167170 - a case with early onset myoclonus epilepsy, ataxia, areflexia, and relatively preserved cognition. Also had high CK and myopathy in a muscle biopsy. Biallelic variants (c.204‐7A>G and c.319C>T, p.Arg107*) and a less severe phenotype.
PMID: 33639315 - a case with congenital hypotonia and persistently elevated creatine kinase levels with biallelic variants (c.430G>T, p.(Gly144Trp) and c.82C>T, p.(Gln28*))
PMID: 29855340 - 2 siblings with hypotonia, muscle weakness, low muscle bulk, and elevated creatine kinase levels with biallelic variants (c.430G>T p.(Gly144Trp) and c.2T>G p.M1?)
DOI:https://doi.org/10.1016/j.nmd.2013.06.404 - an infant with mild hypotonia, severe developmental delay, and increased CK with biallelic variants (c.430G>T p.(Gly144Trp) and c.336+1G>A). Also developed other features of the PME phenotypeCreated: 12 Sep 2021, 5:53 a.m. | Last Modified: 12 Sep 2021, 5:53 a.m.
Panel Version: 2.16
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epilepsy, progressive myoclonic 6 MIM#614018; congenital muscluar dystrophy
Publications
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
Phenotypes
Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan
Publications
Tag Q1_23_NHS_review tag was added to gene: GOSR2.
Phenotypes for gene: GOSR2 were changed from Congenital muscular dystrophy with hypoglycosylation of alpha-dystroglycan to Muscular dystrophy, congenital, with or without seizures, OMIM:620166
Tag Q4_22_promote_green tag was added to gene: GOSR2.
Publications for gene: GOSR2 were set to 29855340
Gene: gosr2 has been classified as Amber List (Moderate Evidence).
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