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Severe Paediatric Disorders

Gene: PHOX2B

Green List (high evidence)

PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 13 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: PHOX2B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3) | Neuroblastoma with Hirschsprung disease, 613013 (3); Mode of inheritance: Autosomal dominant | ND
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Neuroblastoma with Hirschsprung disease, 613013
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
OMIM
603851
Clinvar variants
Variants in PHOX2B
Penetrance
None
Publications
Panels with this gene