1. Genes and Genomic Entities
  2. PNKD

PNKD

paroxysmal nonkinesigenic dyskinesia
OMIM: 609023, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green PNKD 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
  • UKGTN
Phenotypes
  • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Green PNKD 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
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Familial Paroxysmal Nonkinesigenic Dyskinesia
  • Paroxysmal nonkinesigenic dyskinesia, 118800
Green PNKD 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
  • Paroxysmal nonkinesigenic dyskinesia 1, 118800
Red PNKD in Neurodegenerative disorders, adult onset


Level 2: Neurology
Version 9.7
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
    • Familial Paroxysmal Nonkinesigenic Dyskinesia
    • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
    • Paroxysmal nonkinesigenic dyskinesia, 118800
    Red PNKD in Intellectual disability


    Level 2: Developmental disorders
    Version 11.25
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia, 118800
    Green PNKD in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    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 Green
    • NHS GMS
    • Wessex and West Midlands GLH
    • Brain channelopathy v1.46
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, 118800
    • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
    Green PNKD in Dystonia, chorea or related movement disorder, adult onset


    Level 2: Neurology
    Version 6.8
    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
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800
    Green PNKD 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 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Familial Paroxysmal Nonkinesigenic Dyskinesia
    • PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
    • Paroxysmal nonkinesigenic dyskinesia, 118800