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  2. Early onset dystonia
  3. DRD5
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Early onset dystonia

Gene: DRD5

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

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Polymorphisms associated with blepharospasm, insufficient evidence for monogenic involvement.
Created: 27 May 2016, 9:35 a.m.
Created: 27 May 2016, 9:35 a.m.

Panel version: 0.32

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • {Blepharospasm, primary benign}, 606798
OMIM
126453
Clinvar variants
Variants in DRD5
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 May 2016, Gel status: 1

Set publications

Ellen Thomas (Genomics England Curator)

Publications for DRD5 were set to PMID: 17133500

27 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

DRD5 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DRD5 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory