Childhood onset dystonia, chorea or related movement disorder
Gene: BDNF

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

1 review

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: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.

Panel Version: 0.10

Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

South West GLH

Phenotypes

Central hypoventilation syndrome, congenital, 209880

OMIM

113505

Clinvar variants

Variants in BDNF

Penetrance

None

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BDNF was added gene: BDNF was added to Childhood onset dystonia or chorea or related movement disorder. Sources: South West GLH Mode of inheritance for gene: BDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BDNF were set to Central hypoventilation syndrome, congenital, 209880

Childhood onset dystonia, chorea or related movement disorder Gene: BDNF