Congenital myopathy
Gene: MYH8
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
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
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
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
Trismus-pseudocamptodactyly syndrome 158300
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Trismus-pseudocamptodactyly syndrome 158300
Publications
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
Tag Q2_21_rating was removed from gene: MYH8. Tag Q2_21_phenotype was removed from gene: MYH8. Tag Q2_21_expert_review was removed from gene: MYH8.
Source Expert Review Red was added to MYH8. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag Q2_21_rating tag was added to gene: MYH8. Tag Q2_21_expert_review tag was added to gene: MYH8.
Tag Q2_21_phenotype tag was added to gene: MYH8.
Publications for gene: MYH8 were set to 17041932
Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome, 158300 to Trismus-pseudocamptodactyly syndrome, OMIM:158300
Phenotypes for gene: MYH8 were changed from Trismus-pseudocamptodactyly syndrome 158300 to Trismus-pseudocamptodactyly syndrome, 158300
Source NHS GMS was added to MYH8.
Source London South GLH was added to MYH8. 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).
Phenotypes for MYH8 were set to Trismus-pseudocamptodactyly syndrome 158300
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for MYH8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for MYH8 were set to 17041932
MYH8 was added to Congenital myopathypanel. Sources: Expert
MYH8 was added to Congenital myopathypanel. Sources: UKGTN