1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. DRD5
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: DRD5

Red List (low evidence)
DRD5 (dopamine receptor D5)
EnsemblGeneIds (GRCh38): ENSG00000169676
EnsemblGeneIds (GRCh37): ENSG00000169676
OMIM: 126453, Gene2Phenotype
DRD5 is in 4 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)

Not a consistent association with disease; likely multifactorial. Gene has been descibed as susceptibility locus for cervical dystonia
Created: 23 Apr 2019, 12:14 p.m.

Phenotypes
{Blepharospasm, primary benign}, 606798

Publications

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

Panel version: 0.49

Details

Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • {Blepharospasm, primary benign}, 606798
OMIM
126453
Clinvar variants
Variants in DRD5
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 {Blepharospasm, primary benign}, 606798 for gene: DRD5 Publications for gene DRD5 were changed from PMID: 17133500 to 12700316; 17133500

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DRD5.

23 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DRD5.

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: DRD5 was added gene: DRD5 was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: DRD5 was set to Publications for gene: DRD5 were set to PMID: 17133500 Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798