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  3. SGCA
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Rhabdomyolysis and Metabolic Myopathy

Gene: SGCA

Green List (high evidence)
SGCA (sarcoglycan alpha)
EnsemblGeneIds (GRCh38): ENSG00000108823
EnsemblGeneIds (GRCh37): ENSG00000108823
OMIM: 600119, Gene2Phenotype
SGCA is in 10 panels

2 reviews

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple cases reported. Usually childhood onset, but adult onset has been reported.
Well established gene-disease association.
Curated by ClinGen as 'definitive' in 2020
Created: 13 Apr 2022, 12:43 a.m. | Last Modified: 13 Apr 2022, 12:43 a.m.
Panel Version: 0.12859

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152

Publications

Created: 13 Apr 2022, 12:43 a.m.
Last Modified: 13 Apr 2022, 12:43 a.m.
Panel version: Imported from Mendeliome panel version 0.12859

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert list
Created: 29 May 2020, 5:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 29 May 2020, 5:08 a.m.

Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sgca has been classified as Green List (High Evidence).

29 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: sgca has been classified as Green List (High Evidence).

29 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SGCA was added gene: SGCA was added to Rhabdomyolysis RMH. 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