1. Genes and Genomic Entities
  2. ADCY5

ADCY5

adenylate cyclase 5
OMIM: 600293, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Green ADCY5 in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
Green ADCY5 in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.83

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Familial dyskinesia 606703
Green ADCY5 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
  • dystonia
Green ADCY5 in Paroxysmal central nervous system disorders


Level 2: Neurology
Version 4.7
Latest signed off version: v4.6 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Familial dyskinesia 606703
  • Dyskinesia, familial, with facial myokymia, 606703
Red ADCY5 in Skeletal muscle channelopathy


Level 2: Neurology
Version 3.10
Latest signed off version: v3.9 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Red
  • London North GLH
Phenotypes
  • Dyskinesia, familial, with facial myokymia, 606703
Red ADCY5 in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.11
Latest signed off version: v9.4 (12 Aug 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • dystonia
    • Familial dyskinesia 606703
    • Dyskinesia, familial, with facial myokymia, 606703
    Green ADCY5 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ADCY5-related developmental disorder (monoallelic)
    Amber ADCY5 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651
    • neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211
    Green ADCY5 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Brain channelopathy v1.46
    Phenotypes
    • Familial dyskinesia 606703
    • Dyskinesia with facial myokymia
    Red ADCY5 in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.9
    Latest signed off version: v6.7 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • dystonia
    • Familial dyskinesia 606703
    • Dyskinesia, familial, with facial myokymia, 606703
    Green ADCY5 in Dystonia, chorea or related movement disorder, childhood onset


    Level 2: Neurology
    Version 8.14
    Latest signed off version: v8.13 (12 Aug 2026)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dyskinesia with orofacial involvement, autosomal dominant, OMIM:606703
    • dyskinesia with orofacial involvement, autosomal dominant, MONDO:0800028
    • Dyskinesia with orofacial involvement, autosomal recessive, OMIM:619647
    • dyskinesia with orofacial involvement, autosomal recessive, MONDO:0030625
    • Neurodevelopmental disorder with hyperkinetic movements and dyskinesia, OMIM:619651
    • neurodevelopmental disorder with hyperkinetic movements and dyskinesia, MONDO:0859211