PHOX2B

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• Central congenital hypoventilation

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Childhood solid tumours

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Childhood solid tumours cancer susceptibility

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• DDG2P

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Embryonal tumour of possible germline origin

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

• Familial dysautonomia

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Familial Hirschsprung Disease

  MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

• Fetal anomalies

  MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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Disease associations (Open Targets)

• central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease

  0.82

• Ondine syndrome

  0.80

• neuroblastoma, susceptibility to, 2

  0.73

• Haddad syndrome

  0.68

• central hypoventilation syndrome, congenital

  0.64

• neuroblastoma

  0.63

• Hirschsprung disease-ganglioneuroblastoma syndrome

  0.61

• Inherited cancer-predisposing syndrome

  0.55

• hereditary neoplastic syndrome

  0.55

• sudden infant death syndrome

  0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Diseases associated with PHOX2B

Curated MONDO disease pages that list PHOX2B among their top associated genes.

• neuroblastomaRare