PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green PHOX2B in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green UKGTN Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Alder Hey - Erasmus MC Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 Neuroblastoma with Hirschsprung disease, 613013 Congenital Central Hypoventilation Syndrome Central Hypoventilation Syndrome, Congenital, 209880 Tags nucleotide-repeat-expansion
Red PHOX2B in Familial Tumours Syndromes of the central & peripheral Nervous system Level 3: Muscle and nerve Level 2: Tumour syndromes Version 1.15	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Brain, CNS, and PNS Cancer susceptibility to neuroblastoma
Green PHOX2B in Familial dysautonomia Version 1.18	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Emory Genetics Laboratory UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880 Tags nucleotide-repeat-expansion
Red PHOX2B in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Green PHOX2B in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Literature Other Phenotypes sudden infant death syndrome unclassified sudden infant death USID Congenital Central Hypoventilation Syndrome CCHS Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 Tags nucleotide-repeat-expansion
Green PHOX2B in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert List Expert Review Green Other Eligibility statement prior genetic testing Phenotypes Familial Clustering of Neuroblastoma
Green PHOX2B in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Phenotypes Familial Clustering of Neuroblastoma
Green PHOX2B in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Green PHOX2B in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE 209880 NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE 613013
Red PHOX2B in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
Green PHOX2B in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	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 STR
Green PHOX2B in Central congenital hypoventilation Level 2: Respiratory Version 1.7 Latest signed off version: v1.0 (14 Sep 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Congenital central hypoventilation syndrome, OMIM:209880 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MONDO:0800026