PAX9

paired box 9
OMIM: 167416, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red PAX9 in Fetal anomalies


Version 1.732
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • TOOTH AGENESIS, SELECTIVE, 3

Green PAX9 in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • TOOTH AGENESIS, SELECTIVE, 3 604625

    Red PAX9 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1371
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Tooth agenesis, selective, 3, 604625

    Green PAX9 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Tooth agenesis, selective, 3, 604625