1. Genes and Genomic Entities
  2. MYH8

MYH8

myosin heavy chain 8
OMIM: 160741, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Green MYH8 in Other rare neuromuscular disorders


Version 19.202
Latest signed off version: v19.1 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Trismus-pseudocamptodactyly syndrome 158300
Green MYH8 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.31
Latest signed off version: v5.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert
  • UKGTN
  • 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 4.37
Latest signed off version: v4.0 (22 Mar 2023)

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 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    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