Limb girdle muscular dystrophy

Gene: BVES

Red List (low evidence)

BVES (blood vessel epicardial substance)
EnsemblGeneIds (GRCh38): ENSG00000112276
EnsemblGeneIds (GRCh37): ENSG00000112276
OMIM: 604577, Gene2Phenotype
BVES is in 2 panels

6 reviews

Ellen McDonagh (Genomics England Curator)

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

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

only reported in one family
Created: 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

Louise Daugherty (Genomics England Curator)

I don't know

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.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

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

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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 state
Created: 26 Jul 2016, 8:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X, 616812
  • limb girdle muscular dystrophy
  • cardiac arrhythmia
OMIM
604577
Clinvar variants
Variants in BVES
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: bves has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to BVES.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BVES.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to BVES.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

BVES was created by sleigh

26 Jul 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

BVES was added to Limb girdle muscular dystrophypanel. Sources: Literature