PAX7

paired box 7
OMIM: 167410, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green PAX7 in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia
  • Axial hypotonia
  • Ptosis
  • Scoliosis
  • Delayed motor milestones
  • Myopathy, congenital, progressive, with scoliosis, 618578

Red PAX7 in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

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 1.15

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.20
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Hypotonia
    • Axial hypotonia
    • Ptosis
    • Scoliosis
    • Delayed motor milestones
    • Myopathy, congenital, progressive, with scoliosis, 618578

    Red PAX7 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.716
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 1.5
    Signed off v.1.2 on 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, 268220