Genomics England
GMS Panels
Panels
Genes and Entities

POU4F1

POU class 4 homeobox 1
OMIM: 601632
PanelMode of inheritanceDetails
2 panels
Green
in Ataxia and cerebellar anomalies - narrow panel
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset, OMIM:619352
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
POU4F1-related ataxia, intention tremor, and hypotonia syndrome, OMIM:619352