Embryonal tumour of possible germline origin
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 13 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
PHOX2B has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:10 p.m. | Last Modified: 26 Jan 2026, 6:10 p.m.
Panel Version: 0.7
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #209880 & #613013) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 11:14 a.m. | Last Modified: 30 Dec 2025, 11:14 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
neuroblastoma, susceptibility to, 2, MONDO:0700041; Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026; {Neuroblastoma, susceptibility to, 2}, OMIM:613013
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- 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
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Familial Hirschsprung Disease
- Paediatric pseudo-obstruction syndrome
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Central congenital hypoventilation
- Familial dysautonomia
- Embryonal tumour of possible germline origin
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Childhood solid tumours
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PHOX2B was added gene: PHOX2B was added to Embryonal tumour of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to 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