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 Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352
    Green POU4F1 in DDG2P


    Version 6.424
    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
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352