Congenital myopathy

Gene: MYH8

Green List (high evidence)

MYH8 (myosin heavy chain 8)
EnsemblGeneIds (GRCh38): ENSG00000133020
EnsemblGeneIds (GRCh37): ENSG00000133020
OMIM: 160741, Gene2Phenotype
MYH8 is in 7 panels

6 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

There is not enough evidence to support a gene-disease association. This gene has been tagged for review by the GMS specialist group.
Created: 28 Jun 2021, 3:14 p.m. | Last Modified: 28 Jun 2021, 3:14 p.m.
Panel Version: 2.35

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Myopathy is not a feature of this condition. Individuals with the distal arthrogryposis syndrome caused by pathogenic variants in this gene have no or minor muscle weakness.
Created: 3 Jun 2020, 8:44 a.m. | Last Modified: 3 Jun 2020, 8:44 a.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Trismus-pseudocamptodactyly syndrome MIM#158300

Publications

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Trismus-pseudocamptodactyly syndrome 158300

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
Trismus-pseudocamptodactyly syndrome 158300

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Reviewed with Arianna Tucci. Established cause of the phenotype and presentation could overlap therefore appropriate to include.
Created: 22 Feb 2017, 11:12 a.m.
Comment on list classification: Reviewed with Arianna Tucci: Established cause of the phenotype and in view of the function of the gene it would be appropriate to include.
Created: 22 Feb 2017, 11:11 a.m.
Comment when marking as ready: Established cause of Trismus-pseudocamptodactyly syndrome, not myopathy as a presentation.
Created: 3 Feb 2017, 12:24 p.m.
Established cause of the phenotype in terms of reported cases. I cannot find presentation with a myopathic phenotype however.
Created: 31 Jan 2017, 11:19 a.m.

Phenotypes
Trismus-pseudocamptodactyly syndrome 158300

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
Phenotypes
  • Trismus-pseudocamptodactyly syndrome, OMIM:158300
Tags
Q2_21_phenotype
OMIM
160741
Clinvar variants
Variants in MYH8
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Jun 2021, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_phenotype tag was added to gene: MYH8.

28 Jun 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: MYH8 were set to 17041932

28 Jun 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome, 158300 to Trismus-pseudocamptodactyly syndrome, OMIM:158300

17 Oct 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome 158300 to Trismus-pseudocamptodactyly syndrome, 158300

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MYH8.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MYH8. 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.

22 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).

22 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for MYH8 were set to Trismus-pseudocamptodactyly syndrome 158300

22 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).

3 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Feb 2017, Gel status: 1

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for MYH8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Feb 2017, Gel status: 1

Set publications

Helen Brittain (Genomics England Curator)

Publications for MYH8 were set to 17041932

13 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

MYH8 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

MYH8 was added to Congenital myopathypanel. Sources: UKGTN