Genomics England

PHOX2B

paired like homeobox 2b

Panel	Mode of inheritance	Details
Filter panels6 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 Signed-off version 5.11	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 7.0	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 Embryonal tumour of possible germline origin R-numbers: R456 Signed-off version 1.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026, neuroblastoma, susceptibility to, 2, MONDO:0700041, {Neuroblastoma, susceptibility to, 2}, OMIM:613013, Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 7.0	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 2.5	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