PanelApp (test)
  1. Genes and Genomic Entities
  2. MYOD1:Ensemblv90

MYOD1:Ensemblv90

myogenic differentiation 1
OMIM: 159970, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green MYOD1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975

Green MYOD1 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.112

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    Phenotypes
    • Congenital Myopathy 17 (MIM#618975)

    Green MYOD1 in Fetal anomalies


    Version 1.482

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975

    Green MYOD1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    • Other
    • Expert Review Green
    Phenotypes
    • Congenital Myopathy 17 (MIM#618975)