MYOD1

myogenic differentiation 1
OMIM: 159970, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber MYOD1 in Arthrogryposis


Level 2: Neurology
Version 10.5
Latest signed off version: v10.0 (6 May 2026)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
Tags
  • watchlist
Green MYOD1 in Congenital myopathy


Level 2: Neurology
Version 7.14
Latest signed off version: v7.0 (6 May 2026)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975
    Green MYOD1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 7.10
    Latest signed off version: v7.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975