Congenital myopathy

Gene: MYH2

Green List (high evidence)

MYH2 (myosin heavy chain 2)
EnsemblGeneIds (GRCh38): ENSG00000125414
EnsemblGeneIds (GRCh37): ENSG00000125414
OMIM: 160740, Gene2Phenotype
MYH2 is in 5 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)

I don't know

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Proximal myopathy and ophthalmoplegia 605637

Publications

Variants in this GENE are reported as part of current diagnostic practice

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Proximal myopathy and ophthalmoplegia 605637

Helen Brittain (Genomics England Curator)

Green List (high evidence)

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, FORMERLY
Created: 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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
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

9 Mar 2022, Gel status: 3

Removed Tag

Ivone Leong (Genomics England Curator)

Tag for-review was removed from gene: MYH2.

9 Mar 2022, Gel status: 3

Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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

29 Jan 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: MYH2 were set to

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 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

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH2.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYH2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Feb 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MYH2 were set to Proximal myopathy and ophthalmoplegia 605637

13 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

MYH2 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

MYH2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

MYH2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYH2 was added to Congenital myopathypanel. Sources: UKGTN