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  3. PHOX2B
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Neuroblastoma

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

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 2:19 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 2, MONDO:0700041; Neuroblastoma, susceptibility to, 2, MIM#613013; Neuroblastoma with Hirschsprung disease, MIM #613013

Publications

Created: 12 Sep 2024, 2:19 a.m.

Panel version: 0.3

Details

Mode of Inheritance
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
OMIM
603851
Clinvar variants
Variants in PHOX2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: phox2b has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: phox2b has been classified as Green List (High Evidence).

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: PHOX2B was added gene: PHOX2B was added to Neuroblastoma. Sources: Expert list,Expert Review Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHOX2B were set to PMID: 17637745 Phenotypes for gene: PHOX2B were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 2, MONDO:0700041; Neuroblastoma, susceptibility to, 2, MIM#613013; Neuroblastoma with Hirschsprung disease, MIM #613013 Review for gene: PHOX2B was set to GREEN