DRD2

dopamine receptor D2
OMIM: 126450, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red DRD2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.147

review Not set
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia, myoclonic, 159900
Red DRD2 in Autism


Version 0.36

review Not set
Sources
  • Expert Review Red
  • SFARI
Red DRD2 in Adult onset neurodegenerative disorder


Version 4.47
Latest signed off version: v4.34 (31 Jul 2023)

review Unknown
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Expert Review Red
Phenotypes
  • Dystonia, myoclonic, 159900
Red DRD2 in Intellectual disability - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Unknown
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dystonia, myoclonic, 159900
    Red DRD2 in Adult onset dystonia, chorea or related movement disorder


    Version 3.18
    Latest signed off version: v3.12 (31 Jul 2023)

    review Not set
    Sources
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Dystonia, myoclonic, 159900
    Red DRD2 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.77
    Latest signed off version: v3.0 (22 Mar 2023)

    review Unknown
    Sources
    • South West GLH
    Phenotypes
    • Dystonia, myoclonic, 159900
    Red DRD2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Red
    • Expert list
    Phenotypes
    • [Pentosuria], 260800