Sudden death in young people
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Poor evidence of association between repeat length and SIDs in case-control studies; however, good evidence that this gene causes central hypoventilation, which frequently affects babies and can lead to death, so this should be included. Some small indels as well as the polyalanine expansion.Created: 19 Dec 2016, 3:55 p.m.
Alice Gardham (Genomics England)
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 2:40 p.m.
Rebecca Foulger (Genomics England curator)
The role of PHOX2B in sudden death is disputed: mutations in PHOX2B are a common cause of congenital central hypoventilation syndrome (CCHS), which is considered one of the compromised conditions in sudden infant death syndrome (SIDS). In an association study, PMID:24442913 (2014) report that length variation of the polyalanine repeat in exon 3 of the PHOX2B gene is associated with USID/SIDS in the Dutch population. However, an earlier paper PMID:15185974 (Kijima et al., 2004) report that SIDS is NOT associated with mutation of the PHOX2B gene.Created: 29 Nov 2016, 9:56 a.m.
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Literature
- Other
- Phenotypes
-
- sudden infant death syndrome
- unclassified sudden infant death
- USID
- Congenital Central Hypoventilation Syndrome
- CCHS
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
- Tags
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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
panel promoted to version 1
Ellen Thomas (Genomics England Curator)This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as 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 pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for PHOX2B was changed to Other - please provide details in the comments
Set Mode of Inheritance, Added New Source
Rebecca Foulger (Genomics England curator)PHOX2B was added to Sudden death in young peoplepanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Rebecca Foulger (Genomics England curator)PHOX2B was added to Sudden death in young peoplepanel. Source: Emory Genetics Laboratory
Added New Source
Rebecca Foulger (Genomics England curator)PHOX2B was added to Sudden death in young peoplepanel. Source: Literature
Added New Source
Rebecca Foulger (Genomics England curator)PHOX2B was added to Sudden death in young peoplepanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)PHOX2B was created by rfoulger