Arthrogryposis
Gene: MYH2The rating of this gene has been updated following NHS Genomic Medicine Service approvalCreated: 3 Mar 2022, 3:49 p.m. | Last Modified: 3 Mar 2022, 3:49 p.m.
Panel Version: 3.150
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
Congenital contractures in some which improve with timeCreated: 22 Dec 2016, 9:50 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Proximal myopathy and ophthalmoplegia 605637
Publications
Tag for-review was removed from gene: MYH2.
Source Expert Review Red was added to MYH2. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: MYH2.
Publications for gene: MYH2 were set to 23489661; 24193343,20418530
Publications for gene: MYH2 were set to PMC18967; 24193343,
Mode of inheritance for gene: MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for MYH2 were set to Proximal myopathy and ophthalmoplegia 605637
Publications for MYH2 were set to PMC18967; 24193343,
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
MYH2 was added to Arthrogryposispanel. Sources: Expert list
MYH2 was created by ellenmcdonagh