Arthrogryposis
Gene: MYH8

MYH8 (myosin heavy chain 8)
EnsemblGeneIds (GRCh38): ENSG00000133020
EnsemblGeneIds (GRCh37): ENSG00000133020
OMIM: 160741, Gene2Phenotype
MYH8 is in 5 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P
Created: 22 Dec 2016, 10:10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7; DA7) 158300

Publications

Created: 22 Dec 2016, 10:10 a.m.

Panel version: 1.40

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Expert
Expert list

Phenotypes

Trismus-pseudocamptodactyly syndrome (ARTHROGRYPOSIS, DISTAL, TYPE 7
DA7) 158300

OMIM

160741

Clinvar variants

Variants in MYH8

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

22 Dec 2016, Gel status: 4