Regression
Gene: DRD2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single multi-generational family reported, not pertinent to this panel.
Created: 13 Jul 2022, 6:45 a.m. | Last Modified: 13 Jul 2022, 6:45 a.m.

Panel Version: 0.481

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Combined dystonia, MONDO:0020065, DRD2-related

Publications

33200438

Mode of pathogenicity
Other

Created: 13 Jul 2022, 6:45 a.m.
Last Modified: 13 Jul 2022, 6:45 a.m.
Panel version: 0.481

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

Red in PanelApp England. No monogenic disease association reported.
Created: 14 May 2022, 12:21 p.m. | Last Modified: 14 May 2022, 12:21 p.m.

Panel Version: 0.475

Created: 14 May 2022, 12:21 p.m.
Last Modified: 14 May 2022, 12:21 p.m.
Panel version: 0.475

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Combined dystonia, MONDO:0020065, DRD2-related

OMIM

126450

Clinvar variants

Variants in DRD2

Penetrance

None

Publications

33200438

Mode of Pathogenicity

Other

Panels with this gene