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Mendeliome

Gene: DRD2

Amber List (moderate evidence)

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

3 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

2 de novo childhood onset chorea cases p.Met374Arg & a Dutch family segregating p.Ile212Phe with dystonia. Supporting mouse model with gait abnormalities.
Created: 28 Feb 2025, 8:11 a.m. | Last Modified: 28 Feb 2025, 8:11 a.m.
Panel Version: 1.2317

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined dystonia, MONDO:0020065, DRD2-related

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Gain of Function variant reported with disease in a single multigenerational family
Created: 13 Jul 2022, 6:41 a.m. | Last Modified: 13 Jul 2022, 6:41 a.m.
Panel Version: 1.93

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined dystonia, MONDO:0020065, DRD2-related; dystonia; chorea; anxiety; ataxia; orofacial dyskinesia; tremor; memory problems

Publications

Mode of pathogenicity
Other

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Red in PanelApp England. No monogenic disease association reported.
Created: 14 May 2022, 12:20 p.m. | Last Modified: 14 May 2022, 12:20 p.m.
Panel Version: 0.14291

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined dystonia, MONDO:0020065, DRD2-related
  • dystonia
  • chorea
  • anxiety
  • ataxia
  • orofacial dyskinesia
  • tremor
  • memory problems
OMIM
126450
Clinvar variants
Variants in DRD2
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

28 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: drd2 has been classified as Amber List (Moderate Evidence).

13 Jul 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jul 2022, Gel status: 1

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: DRD2 was changed from to Other

13 Jul 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DRD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

20 May 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).

20 May 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).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DRD2 was added gene: DRD2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DRD2 was set to Unknown