Rhabdomyolysis and metabolic muscle disorders

Gene: SGCA

No list

SGCA (sarcoglycan alpha)
EnsemblGeneIds (GRCh38): ENSG00000108823
EnsemblGeneIds (GRCh37): ENSG00000108823
OMIM: 600119, Gene2Phenotype
SGCA is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert list
Created: 7 Oct 2020, 10:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
OMIM
600119
Clinvar variants
Variants in SGCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SGCA was added gene: SGCA was added to Rhabdomyolysis and metabolic muscle disorders. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN gene: SGCA was marked as current diagnostic