PanelApp
  1. Genes and Genomic Entities
  2. PAX4

PAX4

paired box 4
OMIM: 167413, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red PAX4 in Mendeliome


Version 1.4216

4 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Maturity-onset diabetes of the young, type IX MIM#612225
  • Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related
Tags
  • refuted

Red PAX4 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.161

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  4 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    • Royal Melbourne Hospital
    Phenotypes
    • Maturity-onset diabetes of the young, type IX MIM#612225
    • Transient neonatal diabetes mellitus, MONDO:0020525, PAX-4 related
    Tags
    • refuted