Congenital muscular dystrophy and congenital myopathy
Gene: MYH2EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 3 panels
6 reviews
Sarah Leigh (Genomics England Curator)
The 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
Arina Puzriakova (Genomics England Curator)
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
Louise Daugherty (Genomics England Curator)
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.
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Proximal myopathy and ophthalmoplegia 605637
Helen Brittain (Genomics England Curator)
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
- PMID 24193343
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London South GLH
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- Expert
- UKGTN
- Phenotypes
-
- Proximal myopathy and ophthalmoplegia, OMIM:605637
- OMIM
- 160740
- Clinvar variants
- Variants in MYH2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: MYH2 was added gene: MYH2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert,Expert list,Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: MYH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYH2 were set to 11114175; 23489661; 15548556; 23388406; 20418530; 24193343 Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia, OMIM:605637 Penetrance for gene: MYH2 were set to Complete