BVES

blood vessel epicardial substance
OMIM: 604577, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red BVES in Neuromuscular disorders


Version 5.15
Signed off v.5.7 on 12 Dec 2019

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2X

Red BVES in Limb girdle muscular dystrophy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.3

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review 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