1. Genes and Genomic Entities
  2. PAX7

PAX7

paired box 7
OMIM: 167410, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Red PAX7 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.6

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma 2, alveolar, 268220
Red PAX7 in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.26

review Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Rhabdomyosarcoma 2, alveolar, 268220
Green PAX7 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
    Green PAX7 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.181
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myopathy, congenital, progressive, with scoliosis, OMIM:618578
    • Myopathy, congenital, progressive, with scoliosis, MONDO:0032821
    Red PAX7 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Hypotonia
    • Axial hypotonia
    • Ptosis
    • Scoliosis
    • Delayed motor milestones
    • Myopathy, congenital, progressive, with scoliosis, 618578
    Red PAX7 in Sarcoma susceptibility


    Level 2: Cancer susceptibility
    Version 1.82
    Latest signed off version: v1.2 (18 Feb 2020)

    		review Other - please specifiy in evaluation comments
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Rhabdomyosarcoma 2, alveolar, OMIM:268220