Familial pulmonary fibrosis
Gene: PHOX2B
PHOX2B (paired like homeobox 2b)
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000109132
EnsemblGeneIds (GRCh37): ENSG00000109132
OMIM: 603851, Gene2Phenotype
PHOX2B is in 12 panels
2 reviews
Philip Molyneaux (Imperial College)
Associated with Central hypoventilation syndrome, not fibrosis
Created: 26 Apr 2017, 12:13 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Congenital hypoventilation rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:42 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Pulmonary Disease
- OMIM
- 603851
- Clinvar variants
- Variants in PHOX2B
- Penetrance
- Complete
- Panels with this gene
-
- Familial dysautonomia
- Childhood solid tumours
- Familial Tumours Syndromes of the central & peripheral Nervous system
- DDG2P
- Intellectual disability
- Familial pulmonary fibrosis
- Fetal anomalies
- Paediatric pseudo-obstruction syndrome
- Familial Hirschsprung Disease
- Childhood solid tumours cancer susceptibility
- Sudden death in young people
- Central congenital hypoventilation
History Filter Activity
27 Apr 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
8 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
29 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PHOX2B was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PHOX2B was created by ellenmcdonagh