ADCY5

adenylate cyclase 5
OMIM: 600293, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ADCY5 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dyskinesia with orofacial involvement MIM#606703

Green ADCY5 in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskinesia, familial, with facial myokymia, MIM# 606703
    • MONDO:0011707
    • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651

    Green ADCY5 in Mendeliome


    Version 1.1891

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskinesia, familial, with facial myokymia, MIM# 606703
    • MONDO:0011707
    • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651

    Red ADCY5 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Dyskinesia with orofacial involvement MIM#606703

    Amber ADCY5 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651

    Green ADCY5 in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.131

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Dyskinesia, familial, with facial myokymia, MIM# 606703
    • MONDO:0011707
    • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651

    Green ADCY5 in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.37

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Dyskinesia, familial, with facial myokymia, MIM# 606703
    • MONDO:0011707
    • Hyperkinetic movement disorder with dyskinesia, myoclonus, chorea, and dystonia-2 (HYDMCD2), MIM#619647
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD), MIM#619651