Paediatric pseudo-obstruction syndrome
Gene: PHOX2B
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
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
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
Tag STR tag was added to gene: PHOX2B.
Mode of inheritance for gene: PHOX2B was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene: phox2b has been classified as Green List (High Evidence).
Publications for gene: PHOX2B were set to 30672101; 29543228; 12438263
Publications for gene: PHOX2B were set to 30672101
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
Mode of inheritance for gene: PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PHOX2B were set to
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
Mode of inheritance for gene: PHOX2B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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