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Newborns main panel

Gene: PHOX2B

Amber List (moderate evidence)
PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF), dominant-negative (DN) and gain-of-function (GOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://www.nature.com/articles/1210659 and https://search.clinicalgenome.org/kb/genes/HGNC:9143
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PHOX2B. Added phenotypes PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome for gene: PHOX2B Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: PHOX2B were changed from PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome; PHOX2B-related susceptibility to Neuroblastoma to PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PHOX2B. Added phenotypes PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome for gene: PHOX2B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

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

Mafalda Gomes (Genomics England Curator)

gene: PHOX2B was added gene: PHOX2B was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to PHOX2B-related susceptibility to Neuroblastoma