PHOX2B

paired like homeobox 2b
OMIM: 603851, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green PHOX2B in Central Hypoventilation


Level 2: Neurology and neurodevelopmental disorders
Version 1.5

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880

Green PHOX2B in Hirschsprung disease


Level 2: Gastroenterological disorders
Version 0.25

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green PHOX2B in Interstitial Lung Disease


Level 2: Respiratory disorders
Version 1.0

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880

Green PHOX2B in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease - MIM#209880
  • Neuroblastoma with Hirschsprung disease - MIM#613013

Green PHOX2B in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Amber PHOX2B in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • BabySeq Category B gene
Phenotypes
  • Central hypoventilation syndrome

Green PHOX2B in Autonomic neuropathy


Level 2: Autonomic Neuropathy
Version 0.51

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
  • CCHS

Green PHOX2B in Fetal anomalies


Version 1.314

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880

Red PHOX2B in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category B gene
Phenotypes
  • Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880

Green PHOX2B in Neuroblastoma


Level 2: Cancer Predisposition
Version 1.1

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Neuroblastoma, MONDO:0005072
  • Neuroblastoma susceptibility to 2, MONDO:0700041
  • Neuroblastoma, susceptibility to, 2, MIM#613013
  • Neuroblastoma with Hirschsprung disease, MIM #613013

Green CCHS STR in Repeat Disorders


Version 0.168

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Central hypoventilation syndrome, congenital, with or without Hirschsprung disease MIM#209880
Tags
  • paediatric-onset