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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. SGCA
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Limb-Girdle Muscular Dystrophy and Distal 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, 12:45 a.m. | Last Modified: 13 Apr 2022, 12:45 a.m.
Panel Version: 0.61

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, 12:45 a.m.
Last Modified: 13 Apr 2022, 12:45 a.m.
Panel version: 0.61

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 cases reported. Usually childhood onset, but adult onset has been reported.
Sources: Expert Review
Created: 24 Feb 2020, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Feb 2020, 8:37 a.m.

Panel version: Imported from Myopathy - adult onset panel version 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Limb-girdle muscular dystrophy
  • Muscular dystrophy, limb-girdle, type 2D, 608099
  • autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
OMIM
600119
Clinvar variants
Variants in SGCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

14 Apr 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGCA were changed from Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099 to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152

14 Apr 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCA were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SGCA was added gene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099