PAX1

paired box 1
OMIM: 167411, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green PAX1 in Mendeliome


Version 2.588

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Otofaciocervical syndrome 2 with T-cell deficiency, MIM #615560

Green PAX1 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.11

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Otofaciocervical syndrome 2 with T-cell deficiency, MIM #615560

Green PAX1 in Severe Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.6

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Otofaciocervical syndrome 2 with T-cell deficiency, MIM #615560

    Green PAX1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.145

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Otofaciocervical syndrome 2 with T-cell deficiency, MIM #615560