Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: BVES
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
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
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 listCreated: 29 Jun 2020, 3:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Publications
Gene: bves has been classified as Green List (High Evidence).
Publications for gene: BVES were set to PMID: 26642364 32528171 31119192
Gene: bves has been classified as Green List (High Evidence).
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