PanelApp
  1. Genes and Genomic Entities
  2. PNKD

PNKD

paroxysmal nonkinesigenic dyskinesia
OMIM: 609023, ClinGen, DECIPHER

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red PNKD in Alternating Hemiplegia and Hemiplegic Migraine


Level 2: Neurology and neurodevelopmental disorders
Version 0.61

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

Green PNKD in Brain Channelopathies


Level 2: Neurology and neurodevelopmental disorders
Version 1.5

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

    Green PNKD in Mendeliome


    Version 1.3795

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
    • MONDO:0007326

    Red PNKD in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.600

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
    • MONDO:0007326

    Green PNKD in Paroxysmal Dyskinesia


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.144

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Tremors_Superpanel

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Children's Hospital Neurology Department
    • Victorian Clinical Genetics Services
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800

    Green PNKD in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.158

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, 118800

    Green PNKD in Dystonia - isolated/combined


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.42

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800
    • MONDO:0007326

    Green PNKD in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Paroxysmal nonkinesiogenic dyskinesia

    Red PNKD in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.141

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800