Genomics England
GMS Panels
Panels
Genes and Entities

BVES

blood vessel epicardial substance
OMIM: 604577
PanelMode of inheritanceDetails
1 panel
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.40
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2X, 616812, limb girdle muscular dystrophy, cardiac arrhythmia