Adult onset movement disorderGene: BDNF
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.
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
Central hypoventilation syndrome, congenital 209880
Added phenotypes Central hypoventilation syndrome, congenital 209880 for gene: BDNF Publications for gene BDNF were changed from 23649659; 27780732 to 23649659; 27780732; 30643666
Source NHS GMS was added to BDNF.
Source South West GLH was added to BDNF.
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