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  2. Autonomic neuropathy
  3. PHOX2B
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Autonomic neuropathy

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

Alison Yeung (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 11 Nov 2020, 6:18 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS

Variants in this GENE are reported as part of current diagnostic practice

Created: 11 Nov 2020, 6:18 a.m.

Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
  • CCHS
OMIM
603851
Clinvar variants
Variants in PHOX2B
Penetrance
None
Panels with this gene

History Filter Activity

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

11 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

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

11 Nov 2020, Gel status: 1

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

Alison Yeung (Victorian Clinical Genetics Services)

gene: PHOX2B was added gene: PHOX2B was added to Autonomic neuropathy. Sources: Literature Mode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHOX2B were set to OMIM# 209880 CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL; CCHS Review for gene: PHOX2B was set to GREEN gene: PHOX2B was marked as current diagnostic