This Panel is marked as Internal
Tumour predisposition - adult onset
Gene: PHOX2B
PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 13 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- susceptibility to neuroblastoma
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- None
- Panels with this gene
-
- Familial Hirschsprung Disease
- Paediatric pseudo-obstruction syndrome
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Central congenital hypoventilation
- Intellectual disability
- Familial dysautonomia
- Embryonal tumour of possible germline origin
- Familial Tumours Syndromes of the central & peripheral Nervous system
- Familial pulmonary fibrosis
- DDG2P
- Childhood solid tumours
- Fetal anomalies
History Filter Activity
31 Jan 2019, Gel status: 1
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PHOX2B was added gene: PHOX2B was added to Tumour predisposition - adult onset. Sources: Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8),Expert Review Red Mode of inheritance for gene: PHOX2B was set to Unknown Phenotypes for gene: PHOX2B were set to Brain, CNS, and PNS Cancer; susceptibility to neuroblastoma