Genomics England
GMS Panels
Panels
Genes and Entities

SGCA

sarcoglycan alpha
OMIM: 600119
PanelMode of inheritanceDetails
3 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2D, 608099, Limb-girdle muscular dystrophy
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099