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  3. DRD2
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

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

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Linkage association with myoclonus dystonia 11 reported. However variants in SCGE were later detected in reported families.
Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: 0.10

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • South West GLH
Phenotypes
  • Dystonia, myoclonic, 159900
OMIM
126450
Clinvar variants
Variants in DRD2
Penetrance
None
Panels with this gene

History Filter Activity

9 Jul 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene DRD2 was changed from to Unknown Added phenotypes Dystonia, myoclonic, 159900 for gene: DRD2

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to DRD2.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DRD2 was added gene: DRD2 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: DRD2 was set to