Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: BVES
Comment on list classification: As reviewed by Zornitza Stark (Australian Genomics), there is sufficient evidence (five unrelated cases) for this gene to be promoted to GREEN at the next major review. All these patients showed limb-girdle muscular weakness/ dystrophy.Created: 2 May 2023, 7:17 p.m. | Last Modified: 2 May 2023, 7:19 p.m.
Panel Version: 4.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25, OMIM:616812
Publications
PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years.
PMID: 32528171 - 1 patient with limb girdle weakness.
PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness.Created: 29 Jun 2020, 10:24 a.m. | Last Modified: 29 Jun 2020, 10:24 a.m.
Panel Version: 2.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: This gene will remain Red due to overall majority of Red reviews and clinical comments from GLH representatives.Created: 28 Nov 2019, 5:29 p.m. | Last Modified: 28 Nov 2019, 5:29 p.m.
Panel Version: 1.179
only reported in one familyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle muscular dystrophy; cardiac arrhythmia
Publications
Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 11:45 a.m.
Unable to find any evidence of clear LGMD association.Created: 30 Apr 2019, 11:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2X, 616812
Publications
Initially given an LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.Created: 29 Mar 2019, 1:18 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
limb girdle muscular dystrophy; cardiac arrhythmia
Publications
Comment when marking as ready: One variant identified in the homozygous state (2016)Created: 26 Jul 2016, 8:10 a.m.
One variant identified in the homozygous stateCreated: 26 Jul 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Tag Q2_23_promote_green tag was added to gene: BVES.
Publications for gene: BVES were set to 26642364; 31119192; 32528171
Publications for gene: BVES were set to 26642364
Gene: bves has been classified as Amber List (Moderate Evidence).
Gene: bves has been classified as Red List (Low Evidence).
Source Yorkshire and North East GLH was added to BVES.
Phenotypes for gene: BVES were changed from Muscular dystrophy, limb-girdle, type 2X 616812 to Muscular dystrophy, limb-girdle, type 2X, 616812; limb girdle muscular dystrophy; cardiac arrhythmia
Source NHS GMS was added to BVES.
Source South West GLH was added to BVES.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
BVES was added to Limb girdle muscular dystrophypanel. Sources: Literature
BVES was created by sleigh