PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green PHOX2B in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.6

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 1.9

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 1.8

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease 209880
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red PHOX2B in Familial pulmonary fibrosis

Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.7

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 1.12

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 Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 2.0

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 1.6

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Familial Clustering of Neuroblastoma

Green PHOX2B in Fetal anomalies


Version 1.0

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 2.0

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE