Distal myopathies

Gene: MYOT

Green List (high evidence)

MYOT (myotilin)
EnsemblGeneIds (GRCh38): ENSG00000120729
EnsemblGeneIds (GRCh37): ENSG00000120729
OMIM: 604103, Gene2Phenotype
MYOT is in 6 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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • Myopathy, myofibrillar 3, 609200
OMIM
604103
Clinvar variants
Variants in MYOT
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Feb 2017, Gel status: 4

Set Phenotypes

Arianna Tucci (Genomics England Curator)

Phenotypes for MYOT were set to Myopathy, myofibrillar 3, 609200

20 Feb 2017, Gel status: 4

Set publications

Arianna Tucci (Genomics England Curator)

Publications for MYOT were set to 15111675

20 Feb 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for MYOT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYOT was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing