1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. BDNF
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: BDNF

Red List (low evidence)
BDNF (brain derived neurotrophic factor)
EnsemblGeneIds (GRCh38): ENSG00000176697
EnsemblGeneIds (GRCh37): ENSG00000176697
OMIM: 113505, Gene2Phenotype
BDNF is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED
Created: 19 Jun 2019, 4:17 p.m.
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 12:18 p.m.
Created: 23 Apr 2019, 12:18 p.m.

Panel version: 0.88

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Previously linked to CCHS and various neuro disorders (e.g. PD, AD, schizophrenia). The common variant val66met (rs6265) is now considered benign. No clear evidence suporting role in movement disorder.
Created: 23 Apr 2019, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Central hypoventilation syndrome, congenital 209880

Publications

Created: 23 Apr 2019, 12:14 p.m.

Panel version: 0.49

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Central hypoventilation syndrome, congenital 209880
OMIM
113505
Clinvar variants
Variants in BDNF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Central hypoventilation syndrome, congenital 209880 for gene: BDNF Publications for gene BDNF were changed from 23649659; 27780732 to 23649659; 27780732; 30643666

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BDNF.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to BDNF.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BDNF was added gene: BDNF was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BDNF were set to 23649659; 27780732 Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital 209880