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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. BDNF
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

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: 0.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene BDNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Central hypoventilation syndrome, congenital, 209880 for gene: BDNF

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to BDNF.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BDNF was added gene: BDNF was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: BDNF was set to