PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Green PHOX2B in Familial Hirschsprung Disease

Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10

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 1.14

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 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
  • 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 1.31

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 1.15

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 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

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 1.27

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 3.154
Latest signed off version: v3.0 (22 Mar 2023)

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 3.87
Latest signed off version: v3.1 (22 Mar 2023)

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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.524
    Latest signed off version: v5.0 (22 Mar 2023)

    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 Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neuroblastoma with Hirschsprung disease, 613013
    • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880
    Green PHOX2B in Paediatric pseudo-obstruction syndrome


    Version 1.5
    Latest signed off version: v1.0 (22 Mar 2023)

    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


    Version 1.1
    Latest signed off version: v1.0 (14 Sep 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS