PNKD

paroxysmal nonkinesigenic dyskinesia
OMIM: 609023, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green PNKD in Brain channelopathy

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.79

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 1.117

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


Version 1.44
Latest signed off version: v1.2 (27 Feb 2020)

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


Version 2.275
Latest signed off version: v2.178 (5 Aug 2021)

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1651
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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


    Version 2.158
    Latest signed off version: v2.13 (6 Oct 2020)

    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 Adult onset movement disorder


    Version 1.170
    Latest signed off version: v1.121 (5 Aug 2021)

    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 Childhood onset dystonia or chorea or related movement disorder


    Version 1.240
    Latest signed off version: v1.137 (5 Aug 2021)

    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

    Green PNKD in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, 118800