PanelApp
  1. Genes and Genomic Entities
  2. POU4F1

POU4F1

POU class 4 homeobox 1
OMIM: 601632, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green POU4F1 in Mendeliome


Version 1.3512

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset ataxia, intention tremor, and hypotonia syndrome (ATITHS) , MIM#619352

Green POU4F1 in Ataxia - paediatric


Level 2: Neurology and neurodevelopmental disorders
Version 1.60

Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Ataxia
    • intention tremor
    • hypotonia