BVES

blood vessel epicardial substance
OMIM: 604577, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red BVES in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X
Amber BVES in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.32
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • 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
    • Q2_23_promote_green