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Arthrogryposis
Gene: MYH7

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

4 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval
Created: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.

Panel Version: 3.150

Created: 3 Mar 2022, 3:49 p.m.
Last Modified: 3 Mar 2022, 3:49 p.m.
Panel version: 3.150

Arina Puzriakova (Genomics England Curator)

Comment on list classification: This gene will be flagged for review at the next GMS panel update (added 'for-review' tag) as variants are associated with distal myopathy rather than arthrogryposis and therefore MYH7 should be demoted to RED on this panel.
Created: 2 Dec 2020, 3:57 p.m. | Last Modified: 2 Dec 2020, 3:57 p.m.

Panel Version: 3.19

Created: 2 Dec 2020, 3:57 p.m.
Last Modified: 2 Dec 2020, 3:57 p.m.
Panel version: 3.19

Zornitza Stark (Australian Genomics)

Red List (low evidence)

I cannot find evidence for association with arthrogryposis either.
Created: 31 Mar 2020, 5:22 a.m. | Last Modified: 31 Mar 2020, 5:22 a.m.

Panel Version: 3.3

Created: 31 Mar 2020, 5:22 a.m.
Last Modified: 31 Mar 2020, 5:22 a.m.
Panel version: 3.3

Alice Gardham (Genomics England)

Red List (low evidence)

Comment on mode of inheritance: usually monoalleleic
Created: 16 Jan 2017, 12:05 p.m.

Comment on list classification: Made green after internal discussion
Created: 16 Jan 2017, 12:04 p.m.

Comment on list classification: No evidence of association with arthrogryposis
Created: 22 Dec 2016, 10:03 a.m.

Unable to find evidence of arthrogryposis although listed on the Guy's panel as an arthrogryposis gene
Created: 22 Dec 2016, 10:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Laing distal myopathy 160500

Created: 22 Dec 2016, 10:02 a.m.

Panel version: 1.39

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Expert Review Red
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Expert
UKGTN
Expert list

Phenotypes

Laing distal myopathy, OMIM:160500
Laing early-onset distal myopathy, MONDO:0008050

OMIM

160760

Clinvar variants

Variants in MYH7

Penetrance

Complete

Panels with this gene

History Filter Activity

3 Mar 2022, Gel status: 1

Removed Tag

Sarah Leigh (Genomics England Curator)

Tag for-review was removed from gene: MYH7.

3 Mar 2022, Gel status: 1

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Red was added to MYH7. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Dec 2020, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH7 were changed from Laing Distal Myopathy; Cardiomyopathy, familial hypertrophic, 1, 192600; Myopathy, myosin storage, autosomal recessive 255160; Myopathy, myosin storage, autosomal dominant 608358 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050

2 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: myh7 has been classified as Green List (High Evidence).

2 Dec 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: MYH7.

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

16 Jan 2017, Gel status: 4