1. Genes and Genomic Entities
  2. MYH8

MYH8

myosin heavy chain 8
OMIM: 160741, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green MYH8 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.3
Latest signed off version: v6.0 (1 May 2024)

review 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
Red MYH8 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.38
Latest signed off version: v4.37 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London South GLH
    • Expert
    • UKGTN
    Phenotypes
    • Trismus-pseudocamptodactyly syndrome, OMIM:158300
    Green MYH8 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE
    • CARNEY COMPLEX VARIANT
    Red MYH8 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE, OMIM:158300
    • CARNEY COMPLEX VARIANT, OMIM:608837
    Red MYH8 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Carney complex variant, 608837
    • Trismus-pseudocamptodactyly
    • syndrome, 158300
    Green MYH8 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Carney complex variant, 608837
    • Trismus-pseudocamptodactyly syndrome, 158300