Childhood solid tumours
Gene: PHOX2B
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial Clustering of Neuroblastoma
Comment on list classification: On prior testing list; causes neuroblastoma plus Hirschprungs disease.Created: 14 Feb 2016, 5:51 p.m.
Phenotypes sourced from the eligibility statement and OMIM.Created: 8 Jan 2016, 2:29 p.m.
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
Source Expert List was added to PHOX2B. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for PHOX2B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Other
Phenotypes for gene PHOX2B were set to bilateral neuroblastoma; {Neuroblastoma, susceptibility to, 2}; Neuroblastoma with Hirschsprung disease
PHOX2B was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Eligibility statement prior genetic testing
PHOX2B was created by ellenmcdonagh