PAX1

paired box 1
OMIM: 167411, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green PAX1 in COVID-19 research


Level 2: Viral research
Version 1.141

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Otofaciocervical syndrome 2, 615560
  • Syndromic SCID
Green PAX1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Version 4.201
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Otofaciocervical syndrome 2, 615560
  • Syndromic SCID
  • dysmorphism
  • ear abnormalities
  • otofaciocervical syndrome
Green PAX1 in DDG2P


Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • OTOFACIOCERVICAL SYNDROME, OMIM:166780
    Amber PAX1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Otofaciocervical syndrome 2, 615560