Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SGCA
Multiple cases reported. Usually childhood onset, but adult onset has been reported.
Well established gene-disease association.
Curated by ClinGen as 'definitive' in 2020Created: 13 Apr 2022, 12:45 a.m. | Last Modified: 13 Apr 2022, 12:45 a.m.
Panel Version: 0.61
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Publications
>3 cases reported. Usually childhood onset, but adult onset has been reported.
Sources: Expert ReviewCreated: 24 Feb 2020, 8:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Publications
Gene: sgca has been classified as Green List (High Evidence).
Phenotypes for gene: SGCA were changed from Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099 to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099; autosomal recessive limb-girdle muscular dystrophy, MONDO:0015152
Publications for gene: SGCA were set to
gene: SGCA was added gene: SGCA was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCA were set to Limb-girdle muscular dystrophy; Muscular dystrophy, limb-girdle, type 2D, 608099