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Arthrogryposis

Gene: MYH2

Green List (high evidence)

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

1 review

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Proximal myopathy and ophthalmoplegia 605637
OMIM
160740
Clinvar variants
Variants in MYH2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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