Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: SGCD

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

• 8841194
• 19259135
• 20623375
• 10838250
• 10735275
• 9832045
• 30733730

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

• 10974018
• 31983221
• 23695275

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

• 8841194
• 30733730