Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MYOTComment when marking as ready: Some of the reported variants have high population frequency.Created: 1 Jul 2020, 7:32 a.m. | Last Modified: 1 Jul 2020, 7:32 a.m.
Panel Version: 0.37
Associated phenotype was previously known as LGMD1/LGMD1A (OMIM; PMID: 30055862). Phenotypic overlap.
PMID: 21336781: Reported a severe case of LGMD. Patient presented with late onset progressive proximal muscle weakness. CK was slightly elevated. Authors concluded that gene is a rare cause of adult onset LGMD. Variant present in gnomAD (12 hets).
PMID: 15947064: 5 variants reported in 13 patients (including 3 families). Late onset, EMG showed myopathic changes in most patients. Highest MAF (10 hets in gnomAD; Ser60Phe). 9/13 did not show elevated CK levels.
Sources: Expert ReviewCreated: 30 Jun 2020, 11:54 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, myofibrillar, 3 (MIM#609200)
Publications
Gene: myot has been classified as Green List (High Evidence).
Publications for gene: MYOT were set to 30055862; 21336781; 15947064
Gene: myot has been classified as Amber List (Moderate Evidence).
Gene: myot has been classified as Amber List (Moderate Evidence).
gene: MYOT was added gene: MYOT was added to Limb Girdle Muscular Dystrophy. Sources: Expert Review Mode of inheritance for gene: MYOT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYOT were set to 30055862; 21336781; 15947064 Phenotypes for gene: MYOT were set to Myopathy, myofibrillar, 3 (MIM#609200) Review for gene: MYOT was set to AMBER