Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SGCD
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
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 ClinGenCreated: 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
>3 unrelated cases with LGMD, childhood onset
Sources: Expert ReviewCreated: 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
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