1. Panels
  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. SGCG
Regions in panel
Prev Next

Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SGCG

Green List (high evidence)
SGCG (sarcoglycan gamma)
EnsemblGeneIds (GRCh38): ENSG00000102683
EnsemblGeneIds (GRCh37): ENSG00000102683
OMIM: 608896, Gene2Phenotype
SGCG is in 8 panels

3 reviews

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Curated as definitive by ClinGen.
First described in association with LGMD in 1995.
>3 unrelated cases, childhood onset
Created: 19 Apr 2022, 3:53 a.m. | Last Modified: 19 Apr 2022, 3:53 a.m.
Panel Version: 0.13061

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152

Publications

Created: 19 Apr 2022, 3:53 a.m.
Last Modified: 19 Apr 2022, 3:53 a.m.
Panel version: Imported from Mendeliome panel version 0.13061

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

PMID: 30838351 - 7 patients with childhood onset limb girdle MD and biallelic variants. Muscle biopsy supported the diagnosis. Mild proximal muscle weakness and increased serum creatine kinase levels PMID: 25802879 - 2 unrelated patients with a founder missense variant (p.E263K). Patients had childhood onset, with proximal muscle weakness in pelvic girdle muscles and highly elevated CK levels.
Created: 24 Jun 2020, 1:30 p.m. | Last Modified: 24 Jun 2020, 1:30 p.m.
Panel Version: 0.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5, MIM# 253700

Publications

Created: 24 Jun 2020, 1:30 p.m.
Last Modified: 24 Jun 2020, 1:30 p.m.
Panel version: 0.17

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with LGMD, childhood onset
Sources: Expert Review
Created: 24 Feb 2020, 9:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700

Publications

Created: 24 Feb 2020, 9:01 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.66

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2C, 253700
OMIM
608896
Clinvar variants
Variants in SGCG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SGCG 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: SGCG was added gene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700