Childhood solid tumours
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
4 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Clustering of Neuroblastoma
Ellen Thomas (Genomics England Curator)
Comment on list classification: On prior testing list; causes neuroblastoma plus Hirschprungs disease.Created: 14 Feb 2016, 5:51 p.m.
Ellen McDonagh (Genomics England Curator)
Phenotypes sourced from the eligibility statement and OMIM.Created: 8 Jan 2016, 2:29 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert List
- Expert Review Green
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Familial Clustering of Neuroblastoma
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Central congenital hypoventilation
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PHOX2B. Mode of inheritance for gene PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Clustering of Neuroblastoma for gene: PHOX2B Publications for gene PHOX2B were changed from to 22071890
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to PHOX2B. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for PHOX2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Other
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for gene PHOX2B were set to bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 2}; Neuroblastoma with Hirschsprung disease
Added New Source
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)PHOX2B was created by ellenmcdonagh