MYH3

myosin heavy chain 3
OMIM: 160720, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MYH3 in Neuromuscular disorders


Version 5.352
Latest signed off version: v5.43 (4 Mar 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis, distal, type 2A 193700
  • Arthrogryposis, distal, type 8 178110
  • Arthrogryposis, distal, type 2B 601680

Green MYH3 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2 (13 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • UKGTN
  • Expert
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Arthrogryposis, distal, type 2A, 193700
  • Arthrogryposis, distal, type 2B, 601680
  • Arthrogryposis Multiplex Congenita

Green MYH3 in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2 (2 Mar 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • UKGTN
    Phenotypes
    • Arthrogryposis, distal, type 2A 193700
    • Arthrogryposis, distal, type 2B 601680
    • Arthrogryposis, distal, type 8 178110

    Green MYH3 in Fetal anomalies


    Version 1.880
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE 2B
    • DISTAL ARTHROGRYPOSIS TYPE 2A

    Green MYH3 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DISTAL ARTHROGRYPOSIS TYPE 2A 193700
    • DISTAL ARTHROGRYPOSIS TYPE 2B 601680
    • Recessive Spondylocarpotarsal Synostosis Syndrome
    Tags
    • watchlist

    Red MYH3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1651
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Green MYH3 in Severe Paediatric Disorders


    Version 1.127

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Contractures, pterygia, and variable skeletal fusions syndrome 1B, 618469
    • Arthrogryposis, distal, type 2B3 (Sheldon-Hall), 618436
    • Arthrogryposis, distal, type 2A (Freeman-Sheldon), 193700
    • Contractures, pterygia, and variable skeletal fusions syndrome 1A, 178110