Tumour predisposition - childhood onset

Gene: PHOX2B

Green List (high evidence)

PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 11 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27

Lara Hawkes (Genomics England)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial Clustering of Neuroblastoma

Ellen Thomas (Genomics England Curator)

Comment on list classification: On prior testing list; causes neuroblastoma plus Hirschprungs disease.
Created: 14 Feb 2016, 5:51 p.m.

Ellen McDonagh (Genomics England Curator)

Phenotypes sourced from the eligibility statement and OMIM.
Created: 8 Jan 2016, 2:29 p.m.

Details

Mode of Inheritance
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
OMIM
603851
Clinvar variants
Variants in PHOX2B
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PHOX2B. Mode of inheritance for gene PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Familial Clustering of Neuroblastoma for gene: PHOX2B Publications for gene PHOX2B were changed from to 22071890

30 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to PHOX2B. Rating Changed from Green List (high evidence) to Green List (high evidence)

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen Thomas (Genomics England Curator)

Mode of inheritance for PHOX2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

8 Jan 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Other

8 Jan 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene PHOX2B were set to bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 2}; Neuroblastoma with Hirschsprung disease

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PHOX2B was created by ellenmcdonagh