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  2. Adult onset neurodegenerative disorder
  3. DRD5
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Adult onset neurodegenerative 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)

I don't know

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.74

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Neurodegeneration association not established
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

Mode of inheritance
Unknown

Phenotypes
{Blepharospasm, primary benign}, 606798

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

Details

Mode of Inheritance
Unknown
Sources
  • NHS GMS
  • Yorkshire and North East 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 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DRD5.

23 Jul 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to DRD5.

25 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: DRD5 was added gene: DRD5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: DRD5 was set to Unknown Publications for gene: DRD5 were set to PMID: 17133500 Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798