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  2. Limb-Girdle Muscular Dystrophy and Distal Myopathy
  3. SGCB
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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SGCB

Green List (high evidence)
SGCB (sarcoglycan beta)
EnsemblGeneIds (GRCh38): ENSG00000163069
EnsemblGeneIds (GRCh37): ENSG00000163069
OMIM: 600900, Gene2Phenotype
SGCB is in 7 panels

2 reviews

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease relationship
Multiple cases with LGMD with childhood onset
'Definitive' ClinGen curation
Created: 13 Apr 2022, 12:54 a.m. | Last Modified: 13 Apr 2022, 12:54 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152

Publications

Created: 13 Apr 2022, 12:54 a.m.
Last Modified: 13 Apr 2022, 12:54 a.m.
Panel version: 0.61

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with LGMD with childhood onset
Sources: Expert Review
Created: 24 Feb 2020, 8:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286

Publications

Created: 24 Feb 2020, 8:47 a.m.

Panel version: Imported from Myopathy - paediatric onset panel version 0.62

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2E, 604286
OMIM
600900
Clinvar variants
Variants in SGCB
Penetrance
None
Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SGCB was added gene: SGCB was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286