Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: SGCG
Curated as definitive by ClinGen.
First described in association with LGMD in 1995.
>3 unrelated cases, childhood onsetCreated: 19 Apr 2022, 3:53 a.m. | Last Modified: 19 Apr 2022, 3:53 a.m.
Panel Version: 0.13061
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152
Publications
PMID: 30838351 - 7 patients with childhood onset limb girdle MD and biallelic variants. Muscle biopsy supported the diagnosis. Mild proximal muscle weakness and increased serum creatine kinase levels PMID: 25802879 - 2 unrelated patients with a founder missense variant (p.E263K). Patients had childhood onset, with proximal muscle weakness in pelvic girdle muscles and highly elevated CK levels.Created: 24 Jun 2020, 1:30 p.m. | Last Modified: 24 Jun 2020, 1:30 p.m.
Panel Version: 0.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5, MIM# 253700
Publications
>3 unrelated cases with LGMD, childhood onset
Sources: Expert ReviewCreated: 24 Feb 2020, 9:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700
Publications
Gene: sgcg has been classified as Green List (High Evidence).
Publications for gene: SGCG were set to
gene: SGCG was added gene: SGCG was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700