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Gene: SGCA

Green List (high evidence)

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

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Muscular dystrophy, limb-girdle, autosomal recessive 3 sgca refers to a specific type of limb-girdle muscular dystrophy (LGMD) called LGMD type 3, which causes progressive weakness in the proximal muscles (hips and shoulders) primarily affecting the shoulder and pelvic girdle muscles; this condition is often characterized by difficulty walking, calf muscle pseudohypertrophy, and potential complications like cardiomyopathy. Usually childhood onset, but adult onset has been reported.

HGNC approved symbol/name: SGCA
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 4 Feb 2025, 5:07 a.m. | Last Modified: 4 Feb 2025, 5:07 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
  • autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968
OMIM
600119
Clinvar variants
Variants in SGCA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, 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).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, type 2D, 608099 (3) to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy type 2D, MONDO:0011968

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCA were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Muscular dystrophy, limb-girdle, type 2D, 608099 (3) for gene: SGCA

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SGCA was added gene: SGCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)