PanelApp (stage)
  1. Genes and Genomic Entities
  2. PAX7

PAX7

paired box 7
OMIM: 167410, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PAX7 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, congenital, progressive, with scoliosis, MIM# 618578

Green PAX7 in Muscular dystrophy and myopathy_Paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Expert Review Green
    • Expert list
    • Expert list
    Phenotypes
    • Congenital myopathy 19 (MIM#618578)

    Red PAX7 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Myopathy, congenital, progressive, with scoliosis, MIM# 618578

    Red PAX7 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
    • Myopathy, congenital, progressive, with scoliosis, MONDO:0032821