Genomics England
GMS Panels
Panels
Genes and Entities

PHOX2B

paired like homeobox 2b
OMIM: 603851
PanelMode of inheritanceDetails
5 panels
Green
in Central congenital hypoventilation
R-numbers: R333
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Green
in Childhood solid tumours
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Clustering of Neuroblastoma
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
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 4.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880, central hypoventilation syndrome, congenital, MONDO:0800031, Neuroblastoma with Hirschsprung disease, OMIM:613013, neuroblastoma, susceptibility to, 2, MONDO:0700041