This Panel is marked as Retired
Multiple Tumours
Gene: PHOX2B
PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Neuroblastoma
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Panels with this gene
-
- Familial dysautonomia
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Childhood solid tumours
- Sudden death in young people
- Central congenital hypoventilation
History Filter Activity
9 Mar 2016, Gel status: 4
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PHOX2B was created by ellenmcdonagh
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)