POU3F3

POU class 3 homeobox 3
OMIM: 602480, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber POU3F3 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.163
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Snijders Blok-Fisher syndrome
Green POU3F3 in DDG2P


Version 6.432
Latest signed off version: v6.0 (30 Apr 2025)

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 2: Developmental disorders
    Version 9.327
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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