Structural basal ganglia disorders
Gene: BDNFEnsemblGeneIds (GRCh38): ENSG00000176697
EnsemblGeneIds (GRCh37): ENSG00000176697
OMIM: 113505, Gene2Phenotype
BDNF is in 7 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Central hypoventilation syndrome, congenital 209880 phenotype is not relevant to this panel as it does not appear to have basal ganglia involvementCreated: 16 Mar 2017, 11:49 a.m.
Comment on phenotypes: The following susceptibilities are associated with this gene {Anorexia nervosa, susceptibility to} 610269,
{Bulimia nervosa, age of onset of weight loss in} 607499,
{Memory impairment, susceptibility to},
{Obsessive-compulsive disorder, protection against} 164230Created: 16 Mar 2017, 11:36 a.m.
Manju Kurian (UCL-Institute of Child Health)
Not sure that this is a structural basal ganglia gene?Created: 1 Mar 2017, 1:56 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Central hypoventilation syndrome, congenital 209880
- OMIM
- 113505
- Clinvar variants
- Variants in BDNF
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for BDNF were set to 27780732; 23649659
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for BDNF were set to Central hypoventilation syndrome, congenital 209880
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)BDNF was added to Structural basal ganglia disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)BDNF was added to Structural basal ganglia disorderspanel. Sources: Emory Genetics Laboratory
Created
Sarah Leigh (Genomics England Curator)BDNF was created by sleigh