Familial dysautonomia
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Removed 'currently-ngs-unreportable' tag because PHOX2B is rated green on this panel. PHOX2B also rated green on the 'Familial Hirschsprung' and 'Sudden death in the young' panels based on Central hypoventilation syndrome (MIM:209880) phenotype. Although nucleotide repeat expansions in PHOX2B are the most common cause of MIM:209880, other indels are relevant, hence green rating.Created: 25 Jul 2017, 8:23 a.m.
Alice Gardham (Genomics England)
Comment on list classification: Mostly caused by expansions so not detectable at presentCreated: 1 Dec 2016, 12:29 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Phenotypes
-
- Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
- Tags
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Publications
- 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
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable was removed from gene: PHOX2B.
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 1st December 2016 by Alice Gardham. Currently for pilot study only patients. Will need review following pilot study results.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Alice Gardham (Genomics England)PHOX2B was added to Familial dysautonomiapanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,UKGTN,Radboud University Medical Center, Nijmegen
Created
Alice Gardham (Genomics England)PHOX2B was created by agardham