Familial Tumours Syndromes of the central & peripheral Nervous system
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
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Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Brain, CNS, and PNS Cancer
- susceptibility to neuroblastoma
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Panels with this gene
-
- Familial dysautonomia
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Familial pulmonary fibrosis
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Intellectual disability
- Central congenital hypoventilation
History Filter Activity
27 May 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
27 May 2016, Gel status: 1
Set Phenotypes
Ellen Thomas (Genomics England Curator)Phenotypes for PHOX2B were set to Brain, CNS, and PNS Cancer; susceptibility to neuroblastoma
27 Aug 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Source: Emory Genetics Laboratory
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)PHOX2B was added to Familial Tumours Syndromes of the central & peripheral Nervous systempanel. Sources: Emory Genetics Laboratory