POU3F3

POU class 3 homeobox 3
OMIM: 602480, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green POU3F3 in DDG2P


Version 2.50
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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY 616579

    Green POU3F3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1396
    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 Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Snijders Blok-Fisher syndrome, 618604
    • Generalized hypotonia
    • Delayed speech and language development
    • Global developmental delay
    • Intellectual disability
    • Autistic behavior

    Green POU3F3 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
    • Snijders Blok-Fisher syndrome, 618604