1. Genes and Genomic Entities
  2. KCND3

KCND3

potassium voltage-gated channel subfamily D member 3
OMIM: 605411, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red KCND3 in Sudden death in young people

Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 1.16

review Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
  • Other
Phenotypes
  • sudden unexplained death
  • arrhythmia
  • sudden cardiac arrest
Green KCND3 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Spinocerebellarataxia19,607346
    Green KCND3 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellarataxia19,607346
    Red KCND3 in Short QT syndrome


    Level 2: Cardiology
    Version 3.24
    Latest signed off version: v3.23 (12 Aug 2026)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Not set
    Sources
    • Brugada syndrome (Version 1.7)
    Red KCND3 in Brugada syndrome and cardiac sodium channel disease


    Level 2: Cardiology
    Version 3.18
    Latest signed off version: v3.17 (12 Aug 2026)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • London South GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Brugada syndrome 9, OMIM:616399
    Green KCND3 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.5
    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
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Spinocerebellarataxia19, OMIM:607346
    Green KCND3 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
    • KCND3-related developmental disorder (monoallelic)
    Green KCND3 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.57
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 19 (OMIM: 607346)
    • spinocerebellar ataxia type 19/22, MONDO:0011819
    Amber KCND3 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.1
    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 Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia 19, OMIM: 607346
    • spinocerebellar ataxia type 19/22, MONDO:0011819
    Green KCND3 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.5
    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
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 19, 607346
    • Spinocerebellarataxia19, 607346
    Amber KCND3 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, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 19, 607346