Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SGCD

Green List (high evidence)

SGCD (sarcoglycan delta)
EnsemblGeneIds (GRCh38): ENSG00000170624
EnsemblGeneIds (GRCh37): ENSG00000170624
OMIM: 601411, Gene2Phenotype
SGCD is in 8 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported.
Created: 14 Apr 2022, 6:21 a.m. | Last Modified: 14 Apr 2022, 6:21 a.m.
Panel Version: 0.12907

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152

Publications

Samantha Ayres (Victorian Clinical Genetics Services)

Red List (low evidence)

Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease.
First described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018).
Case-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort.

Animal models demonstrate mild cardiomyopathy phenotype.

Curated as 'limited' gene-disease association by ClinGen
Created: 13 Apr 2022, 1:57 a.m. | Last Modified: 13 Apr 2022, 1:57 a.m.
Panel Version: 0.12859
Well established gene-disease association for LGMD.
Multiple unrelated cases studied over a long period of time.
Curated as 'definitive' by ClinGen.
Created: 13 Apr 2022, 1:03 a.m. | Last Modified: 13 Apr 2022, 1:03 a.m.
Panel Version: 0.12859

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiomyopathy, dilated, 1L, MIM#606685; dilated cardiomyopathy MONDO:0005021

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

>3 unrelated cases with LGMD, childhood onset
Sources: Expert Review
Created: 24 Feb 2020, 8:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 6 MIM#601287

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, type 2F, 601287
OMIM
601411
Clinvar variants
Variants in SGCD
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: SGCD was added gene: SGCD was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287