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  2. Early onset dystonia
  3. DRD2
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Early onset dystonia

Gene: DRD2

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

1 review

Ellen Thomas (Genomics England Curator)

Comment on list classification: Relationship to phenotype not established.
Created: 27 May 2016, 9:33 a.m.
Created: 27 May 2016, 9:33 a.m.

Panel version: 0.30

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia, myoclonic, 159900
OMIM
126450
Clinvar variants
Variants in DRD2
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1414/
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 DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/

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 ()

DRD2 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DRD2 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory