Genomics England
GMS Panels
Panels
Genes and Entities

SGCB

sarcoglycan beta
OMIM: 600900
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 4.33
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Limb-Girdle Muscular Dystrophy, Recessive, Muscular dystrophy, limb-girdle, type 2E, 604286, Limb-girdle muscular dystrophy