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  2. Central Hypoventilation
  3. PHOX2B
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Central Hypoventilation

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

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

Created: 30 Oct 2020, 10:34 p.m.
Last Modified: 30 Oct 2020, 10:34 p.m.
Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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
Panels with this gene

History Filter Activity

30 Oct 2020, 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).

30 Oct 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PHOX2B were changed from to Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, MIM# 209880

30 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PHOX2B were set to

30 Oct 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PHOX2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PHOX2B was added gene: PHOX2B was added to Central Hypoventilation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PHOX2B was set to Unknown