Genomics England
GMS Panels
Panels
Genes and Entities

POU3F3

POU class 3 homeobox 3
OMIM: 602480
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
INTELLECTUAL DISABILITY 616579
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Snijders Blok-Fisher syndrome, 618604, Generalized hypotonia, Delayed speech and language development, Global developmental delay, Intellectual disability, Autistic behavior