Congenital myopathy
Gene: MYH2The mode of inheritance of this gene has been updated followingNHS Genomic Medicine Service approval.Created: 9 Mar 2022, 3:50 p.m. | Last Modified: 9 Mar 2022, 3:50 p.m.
Panel Version: 2.74
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Comment on mode of inheritance: Multiple independent reports of both biallelic (PMIDs: 15548556; 23388406; 20418530; 24193343) and monoallelic cases (PMIDs: 11114175; 23489661). 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, 4:13 p.m. | Last Modified: 29 Jan 2021, 4:13 p.m.
Panel Version: 2.24
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Proximal myopathy and ophthalmoplegia 605637
Comment when marking as ready: Variable age of onset but does span neonatal (contractures) and early childhood (weakness / myopathic appearance) presentations.Created: 2 Feb 2017, 11:55 a.m.
Comment on phenotypes: Previously referred to as INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT, FORMERLY; IBM3, FORMERLYCreated: 2 Feb 2017, 11:54 a.m.
Variable age of onset but does span neonatal (contractures) and early childhood (weakness / myopathic appearance) presentations.Created: 26 Jan 2017, 11:18 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Proximal myopathy and ophthalmoplegia 605637
Publications
Phenotypes for gene: MYH2 were changed from Proximal myopathy and ophthalmoplegia, OMIM:605637; Myopathy, proximal, and ophthalmoplegia, MONDO:0011577 to Proximal myopathy and ophthalmoplegia, OMIM:605637
Tag for-review was removed from gene: MYH2.
Source Expert list was added to MYH2. Mode of inheritance for gene MYH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYH2 were set to
Tag for-review tag was added to gene: MYH2.
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
Source NHS GMS was added to MYH2.
Source London South GLH was added to MYH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for MYH2 were set to Proximal myopathy and ophthalmoplegia 605637
MYH2 was added to Congenital myopathypanel. Sources: Expert
MYH2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
MYH2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
MYH2 was added to Congenital myopathypanel. Sources: UKGTN