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Arthrogryposis

Gene: MYH2

Red List (low evidence)
MYH2 (myosin heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 3 panels

3 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 mode of inheritance: Independent reports of both biallelic (PMIDs: 20418530; 24193343) and monoallelic cases (PMIDs: 23489661) with joint contractures. MOI should therefore be changed from 'Monoallelic' to 'Both monoallelic and biallelic' at the next GMS panel update (added 'for-review' tag)
Created: 29 Jan 2021, 4:25 p.m. | Last Modified: 29 Jan 2021, 4:25 p.m.
Panel Version: 3.59
Created: 29 Jan 2021, 4:25 p.m.
Last Modified: 29 Jan 2021, 4:25 p.m.
Panel version: 3.59

Alice Gardham (Genomics England)

Green List (high evidence)

Congenital contractures in some which improve with time
Created: 22 Dec 2016, 9:50 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia 605637

Publications

Created: 22 Dec 2016, 9:50 a.m.

Panel version: 1.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Proximal myopathy and ophthalmoplegia, OMIM:605637
  • Myopathy, proximal, and ophthalmoplegia, MONDO:0011577
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
Complete
Publications
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: MYH2.

3 Mar 2022, Gel status: 1

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Red was added to MYH2. Rating Changed from Green List (high evidence) to Red List (low evidence)

29 Jan 2021, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: MYH2.

29 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYH2 were set to 23489661; 24193343,20418530

29 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYH2 were set to PMC18967; 24193343,

29 Jan 2021, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

29 Jan 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia 605637 to Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577

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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for MYH2 were set to Proximal myopathy and ophthalmoplegia 605637

22 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for MYH2 were set to PMC18967; 24193343,

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

MYH2 was added to Arthrogryposispanel. Source: UKGTN MYH2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services MYH2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen MYH2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene MYH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

MYH2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MYH2 was created by ellenmcdonagh