Dystonia - childhood onset

Gene: DRD5

Red List (low evidence)

DRD5 (dopamine receptor D5)
EnsemblGeneIds (GRCh38): ENSG00000169676
EnsemblGeneIds (GRCh37): ENSG00000169676
OMIM: 126453, Gene2Phenotype
DRD5 is in 5 panels

0 reviews

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
Phenotypes
  • {Blepharospasm, primary benign}, 606798
OMIM
126453
Clinvar variants
Variants in DRD5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Eleanor Williams: Updated to green when making t

19 Dec 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: DRD5 was added gene: DRD5 was added to Dystonia - childhood onset. Sources: Expert Review Red Mode of inheritance for gene: DRD5 was set to Unknown Publications for gene: DRD5 were set to 17133500 Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798