Familial pulmonary fibrosis
Gene: BDNF
BDNF (brain derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000176697
EnsemblGeneIds (GRCh37): ENSG00000176697
OMIM: 113505, Gene2Phenotype
BDNF is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000176697
EnsemblGeneIds (GRCh37): ENSG00000176697
OMIM: 113505, Gene2Phenotype
BDNF is in 7 panels
2 reviews
Philip Molyneaux (Imperial College)
Associated with Central hypoventilation syndrome, not fibrosis
Created: 26 Apr 2017, 9:46 a.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Congenital hypoventilation rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:41 p.m.
Comment when marking as ready: Congenital hypoventilation rather than fibrosis -not relevant phenotypeCreated: 8 Feb 2017, 5:41 p.m.
Details
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Phenotypes
-
- Central hypoventilation syndrome, congenital
- OMIM
- 113505
- Clinvar variants
- Variants in BDNF
- Penetrance
- Complete
- Panels with this gene
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
27 Apr 2017, Gel status: 1
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for BDNF were set to Central hypoventilation syndrome, congenital
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).
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)BDNF was added to Familial pulmonary fibrosispanel. Sources: Emory Genetics Laboratory
29 Oct 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)BDNF was created by ellenmcdonagh