Rhabdomyolysis and Metabolic 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, 12:43 a.m. | Last Modified: 13 Apr 2022, 12:43 a.m.
Panel Version: 0.12859
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
Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert listCreated: 29 May 2020, 5:08 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).
Gene: sgca has been classified as Green List (High Evidence).
gene: SGCA was added gene: SGCA was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGCA were set to 27297959; 26453141; 23989969 Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Review for gene: SGCA was set to GREEN