Sudden death in young people
Gene: PHOX2BComment 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.
Comment on mode of pathogenicity: Nucleotide repeat expansion. Tagged 5.12.16 by Alice GardhamCreated: 5 Dec 2016, 2:40 p.m.
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
This panel contains genes which aren't arrhythmic or metabolic causes of sudden death with normal post mortem.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for PHOX2B was changed to Other - please provide details in the comments
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
PHOX2B was added to Sudden death in young peoplepanel. Source: Emory Genetics Laboratory
PHOX2B was added to Sudden death in young peoplepanel. Source: Literature
PHOX2B was added to Sudden death in young peoplepanel. Sources: Other
PHOX2B was created by rfoulger