Fetal anomalies
Gene: PHOX2B

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)

Congenital central hypoventilation syndrome is characterised by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Affected individuals typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Hirschsprung disease (HSCR) which appears in 16% of CCHS patients. Most variants are polyalanine expansions in the PHOX2B gene, and others are SNVs. Suitable for fetal anomalies panel.
Created: 21 Feb 2022, 6:12 a.m. | Last Modified: 21 Feb 2022, 6:12 a.m.

Panel Version: 0.3726

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880

Publications

PubMed: 14608649, 15657873, 15121777, 26063465

Created: 21 Feb 2022, 6:12 a.m.
Last Modified: 21 Feb 2022, 6:12 a.m.
Panel version: 0.3726

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, OMIM #209880

OMIM

603851

Clinvar variants

Variants in PHOX2B

Penetrance

None

Publications

Panels with this gene