Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: MYOT

Green List (high evidence)

MYOT (myotilin)
EnsemblGeneIds (GRCh38): ENSG00000120729
EnsemblGeneIds (GRCh37): ENSG00000120729
OMIM: 604103, Gene2Phenotype
MYOT is in 4 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment 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

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

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 Review
Created: 30 Jun 2020, 11:54 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, myofibrillar, 3 (MIM#609200)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Myopathy, myofibrillar, 3 (MIM#609200)
OMIM
604103
Clinvar variants
Variants in MYOT
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: myot has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: MYOT were set to 30055862; 21336781; 15947064

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myot has been classified as Amber List (Moderate Evidence).

1 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: myot has been classified as Amber List (Moderate Evidence).

30 Jun 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Crystle Lee (Victorian Clinical Genetics Services)

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