BVES

blood vessel epicardial substance
OMIM: 604577, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel
Green BVES in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


Level 2: Neurology
Version 5.29
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • 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
    Tags
    • new-gene-name