Recurrent episodic apnoea
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
3 reviews
Arina Puzriakova (Genomics England Curator)
The rating of this gene has been set to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 2:43 p.m. | Last Modified: 1 Feb 2023, 2:43 p.m.
Panel Version: 0.91
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: The mode of inheritance of both monoalleic and biallelic has been selected as PubMed: 30672101 reports a family where monoallelic family members are unaffected, but the compound heterozygous patient is affected.Created: 22 Dec 2022, 11:29 a.m. | Last Modified: 22 Dec 2022, 11:29 a.m.
Panel Version: 0.9
PHOX2B is associated with Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease (OMIM:209880) in OMIM and as definitive Gen2Phen gene for the same condition. Seven PHOX2B variants have been reported, including the 5–9 alanine expansion within a 20-residue polyalanine tract on exon 4.Created: 22 Dec 2022, 11:25 a.m. | Last Modified: 22 Dec 2022, 11:25 a.m.
Panel Version: 0.7
Eleanor Williams (Genomics England Curator)
Gene added on recommendation of Dr Emma Matthews. Gene submitted as PHOX2B (+/- additional STR or CNV)Created: 21 Dec 2022, 2:49 p.m. | Last Modified: 21 Dec 2022, 2:49 p.m.
Panel Version: 0.2
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880
- central hypoventilation syndrome, congenital, MONDO:0800031
- Tags
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial dysautonomia
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Familial pulmonary fibrosis
- Intellectual disability
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Central congenital hypoventilation
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag STR tag was added to gene: PHOX2B.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PHOX2B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: phox2b has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PHOX2B were set to 30672101
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PHOX2B were set to
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: PHOX2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PHOX2B was added gene: PHOX2B was added to Reccurent episodic apnoea. Sources: Expert list Mode of inheritance for gene: PHOX2B was set to