Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: BVES

Green List (high evidence)

BVES (blood vessel epicardial substance)
EnsemblGeneIds (GRCh38): ENSG00000112276
EnsemblGeneIds (GRCh37): ENSG00000112276
OMIM: 604577, Gene2Phenotype
BVES is in 5 panels

3 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified DEFINITIVE by ClinGen Muscular Dystrophies and Myopathies VCEP on 29/08/2024 - https://search.clinicalgenome.org/CCID:004300

Biallelic LoF is the mechanism of disease.
Created: 6 Sep 2024, 1:42 a.m. | Last Modified: 6 Sep 2024, 1:42 a.m.
Panel Version: 1.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
autosomal recessive limb-girdle muscular dystrophy MONDO:0015152

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies: zebrafish model. 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: 26 Apr 2022, 6:23 a.m. | Last Modified: 26 Apr 2022, 6:25 a.m.
Panel Version: 0.13327

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25, MIM# 616812

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: aka POPDC1

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.
Sources: Expert list
Created: 29 Jun 2020, 3:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25 616812

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
OMIM
604577
Clinvar variants
Variants in BVES
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bves has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BVES were set to PMID: 26642364 32528171 31119192

29 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bves has been classified as Green List (High Evidence).

29 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

gene: BVES was added gene: BVES was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BVES were set to PMID: 26642364 32528171 31119192 Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Review for gene: BVES was set to GREEN