Genomics England
GMS Panels
Panels
Genes and Entities

PHOX2B

paired like homeobox 2b
OMIM: 603851
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880, NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Green
in Tumour predisposition - childhood onset
R-numbers: R359
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Clustering of Neuroblastoma