Congenital muscular dystrophy and congenital myopathy

Gene: MYH8

Red List (low evidence)

The rating of this gene has been updated to red following NHS Genomic Medicine Service approval. MYH8 remains green on the Arthrogryposis (R83) panel.

Created: 1 Feb 2023, 5:10 p.m. | Last Modified: 1 Feb 2023, 5:10 p.m.

Panel Version: 3.14

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

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

• 22918376
• 17434305

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.

Green List (high evidence)

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

Phenotypes
Trismus-pseudocamptodactyly syndrome 158300

Publications

• 17041932

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

Green List (high evidence)

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

Phenotypes
Trismus-pseudocamptodactyly syndrome 158300

Publications

• 17041932

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

• PMID 17041932