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  2. Dystonia - isolated/combined
  3. DRD2
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Dystonia - isolated/combined

Gene: DRD2

Red List (low evidence)
DRD2 (dopamine receptor D2)
EnsemblGeneIds (GRCh38): ENSG00000149295
EnsemblGeneIds (GRCh37): ENSG00000149295
OMIM: 126450, Gene2Phenotype
DRD2 is in 3 panels

2 reviews

Chirag Patel (Genetic Health Queensland)

Comment on list classification: Single family only
Created: 6 Jul 2022, 12:39 p.m. | Last Modified: 6 Jul 2022, 12:39 p.m.
Panel Version: 1.23
Created: 6 Jul 2022, 12:39 p.m.
Last Modified: 6 Jul 2022, 12:39 p.m.
Panel version: 1.23

Shekeeb Mohammad (Children's Hospital at Westmead)

Green List (high evidence)

Gain of Function variants reported with disease in a single multigenerational family doi: 10.1002/mds.28385
Sources: Literature
Created: 6 Jul 2022, 4:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jul 2022, 4:23 a.m.

Panel version: 1.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Combined dystonia, MONDO:0020065, DRD2-related
  • dystonia
  • chorea
  • anxiety
  • ataxia
  • orofacial dyskinesia
  • tremor
  • memory problems
OMIM
126450
Clinvar variants
Variants in DRD2
Penetrance
Complete
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: drd2 has been classified as Red List (Low Evidence).

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DRD2 were changed from dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems to Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems

6 Jul 2022, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: drd2 has been classified as Red List (Low Evidence).

6 Jul 2022, Gel status: 0

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

Shekeeb Mohammad (Children's Hospital at Westmead)

gene: DRD2 was added gene: DRD2 was added to Dystonia - isolated/combined. Sources: Literature Mode of inheritance for gene: DRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DRD2 were set to 33200438 Phenotypes for gene: DRD2 were set to dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems Penetrance for gene: DRD2 were set to Complete Mode of pathogenicity for gene: DRD2 was set to Other