Interstitial Lung Disease
Gene: PHOX2B

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

2 reviews

Suzanna Lindsey-Temple (Liverpool Hospital)

Green List (high evidence)

Well-established gene-disease association.
Created: 6 Nov 2021, 6:41 a.m. | Last Modified: 6 Nov 2021, 6:41 a.m.

Panel Version: 0.183

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Congenital central hypoventilation syndrome; Neonatal respiratory distress syndrome

Created: 6 Nov 2021, 6:41 a.m.
Last Modified: 6 Nov 2021, 6:41 a.m.
Panel version: 0.183

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Variants in this gene account for majority of CCHS. The most common variant type is expansion of the polyalanine tract in exon 3. However, non-polyA variants are also reported, including SNVs and CNVs.
Created: 30 Oct 2020, 10:34 p.m. | Last Modified: 30 Oct 2020, 10:34 p.m.

Panel Version: 0.17

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

20301600

Created: 30 Oct 2020, 10:34 p.m.
Last Modified: 30 Oct 2020, 10:34 p.m.
Panel version: Imported from Central Hypoventilation panel version 0.17

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Victorian Clinical Genetics Services

Phenotypes

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

OMIM

603851

Clinvar variants

Variants in PHOX2B

Penetrance

None

Publications

20301600

Panels with this gene