Distal myopathies
Gene: MYH7

MYH7 (myosin heavy chain 7)
EnsemblGeneIds (GRCh38): ENSG00000092054
EnsemblGeneIds (GRCh37): ENSG00000092054
OMIM: 160760, Gene2Phenotype
MYH7 is in 14 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as ready as clearly associated with distal myopathy
Created: 20 Feb 2017, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Laing distal myopathy, 160500

Publications

20301606

Created: 31 Jan 2017, 4:29 p.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen

Phenotypes

Laing distal myopathy, OMIM:160500
Laing early-onset distal myopathy, MONDO:0008050
Scapuloperoneal syndrome, myopathic type, OMIM:181430
MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409

OMIM

160760

Clinvar variants

Variants in MYH7

Penetrance

Incomplete

Publications

20301606

Panels with this gene

History Filter Activity

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH7 were changed from Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Scapuloperoneal syndrome, myopathic type, OMIM:181430; MYH7-related late-onset scapuloperoneal muscular dystrophy, MONDO:0008409

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH7 were changed from Laing distal myopathy, 160500 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050

22 Feb 2017, Gel status: 4