1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. DRD2
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: DRD2

Red List (low evidence)
DRD2 (dopamine receptor D2)
EnsemblGeneIds (GRCh38): ENSG00000149295
EnsemblGeneIds (GRCh37): ENSG00000149295
OMIM: 126450, Gene2Phenotype
DRD2 is in 5 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, 4:18 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)

Linkage association with myoclonus dystonia 11 reported. However variants in SCGE were later detected in reported families.
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
Dystonia, myoclonic, 159900

Publications

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

Panel version: 0.49

Details

Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Dystonia, myoclonic, 159900
OMIM
126450
Clinvar variants
Variants in DRD2
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 Dystonia, myoclonic, 159900 for gene: DRD2 Publications for gene DRD2 were changed from http://www.ncbi.nlm.nih.gov/books/NBK1414/ to 20301587

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DRD2.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DRD2.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DRD2 was added gene: DRD2 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: DRD2 was set to Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/ Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900