Distal myopathies
Gene: MYOT

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: mutations in MYOT cause a distal myopathy phenotype
Created: 20 Feb 2017, 4:39 p.m.

Note that limb-girdle muscular dystrophy type 1A (LGMD1A; 159000) and spheroid body myopathy (182920) are allelic disorders with overlapping features.
Created: 1 Feb 2017, 9:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, myofibrillar 3, 609200

Publications

15111675

Created: 1 Feb 2017, 9:39 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Eligibility statement prior genetic testing

Phenotypes

Myopathy, myofibrillar, 3, OMIM:609200
Myopathy, spheroid body, OMIM:182920

OMIM

604103

Clinvar variants

Variants in MYOT

Penetrance

Complete

Publications

15111675

Panels with this gene

History Filter Activity

4 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920

4 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

4 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar 3, 609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920

22 Feb 2017, Gel status: 4