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  2. GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH
  3. DRD5
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GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH

Gene: DRD5

Red List (low evidence)
DRD5 (dopamine receptor D5)
EnsemblGeneIds (GRCh38): ENSG00000169676
EnsemblGeneIds (GRCh37): ENSG00000169676
OMIM: 126453, Gene2Phenotype
DRD5 is in 4 panels

1 review

Emily Jones (North Bristol NHS Trust)

Red List (low evidence)

Not a consistent association with disease; likely multifactorial. Gene has been descibed as susceptibility locus for cervical dystonia
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
  • {Blepharospasm, primary benign}, 606798
OMIM
126453
Clinvar variants
Variants in DRD5
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 DRD5 was changed from to Unknown Added phenotypes {Blepharospasm, primary benign}, 606798 for gene: DRD5

2 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to DRD5.

2 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: DRD5 was added gene: DRD5 was added to GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH. Sources: South West GLH Mode of inheritance for gene: DRD5 was set to