Rhabdomyolysis and metabolic muscle disorders
Gene: SGCA
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:55 p.m. | Last Modified: 1 Feb 2023, 2:55 p.m.
Panel Version: 2.5
Comment on list classification: New gene added by Zornitza Stark. Rhabdomyolysis has been reported as a presenting feature in some cases including muscle weakness, exercise intolerance, myalgia, myoglobinuria, and hyperCKemia. Sufficient unrelated cases (>3) in literature to promote this gene to Green at the next GMS review.Created: 17 Jan 2022, 12:47 p.m. | Last Modified: 17 Jan 2022, 12:47 p.m.
Panel Version: 1.74
Four unrelated cases reported with rhabdomyolysis or exercise intolerance.
Sources: Expert listCreated: 7 Oct 2020, 10:56 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q1_22_rating was removed from gene: SGCA.
Source Expert Review Green was added to SGCA. Source NHS GMS was added to SGCA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: sgca has been classified as Amber List (Moderate Evidence).
Tag Q1_22_rating tag was added to gene: SGCA.
Phenotypes for gene: SGCA were changed from Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 to Muscular dystrophy, limb-girdle, autosomal recessive 3, OMIM:608099
gene: SGCA was added gene: SGCA was added to Rhabdomyolysis and metabolic muscle disorders. 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 gene: SGCA was marked as current diagnostic