Paediatric pseudo-obstruction syndrome
Gene: PHOX2BEnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green and the mode of inheritance set to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
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: 0.82
PHOX2B is associated with Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease (OMIM:209880) and Neuroblastoma with Hirschsprung disease (OMIM:613013) in OMIM and as definitive Gen2Phen gene for the same conditions. Nine PHOX2B variants have been reported, including the 5–9 alanine expansion within a
20-residue polyalanine tract on exon 4.Created: 22 Dec 2022, 11:23 a.m. | Last Modified: 22 Dec 2022, 11:23 a.m.
Panel Version: 0.80
Eleanor Williams (Genomics England Curator)
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
Unknown
Phenotypes
monogenic syndrome with a variable predisposition to HSCR
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
- Neuroblastoma with Hirschsprung disease, OMIM:613013
- neuroblastoma, susceptibility to, 2, MONDO:0700041
- 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
- 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
Added Tag
Arina Puzriakova (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; 29543228; 12438263
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PHOX2B were set to 30672101
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PHOX2B were changed from Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031 to Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM:209880; central hypoventilation syndrome, congenital, MONDO:0800031; Neuroblastoma with Hirschsprung disease, OMIM:613013; neuroblastoma, susceptibility to, 2, MONDO:0700041
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 Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: PHOX2B was set to