ANK2

ankyrin 2
OMIM: 106410, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
Red ANK2 in Progressive cardiac conduction disease


Version 2.8
Latest signed off version: v2.7 (1 May 2024)

Component of the following Super Panels:

  • 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
    Phenotypes
    • Heart conduction disease, MONDO:0000992
    Red ANK2 in Short QT syndrome


    Version 3.12
    Latest signed off version: v3.11 (1 May 2024)

    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
    • North West GLH
    • Brugada syndrome (Version 1.7)
    • Long QT syndrome (Version 1.5)
    • Emory Genetics Laboratory
    Phenotypes
    • Long QT syndrome 4 (600919)
    • Long QT syndrome 4 600919
    • Cardiac arrhythmia, ankyrin-B-related (600919)
    • Cardiac arrhythmia, ankyrin-B-related 600919
    Amber ANK2 in Arrhythmogenic right ventricular cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 3.11
    Latest signed off version: v3.10 (1 May 2024)

    Component of the following Super Panels:

  • 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
    • Expert Review Amber
    • NHS GMS
    Red ANK2 in Long QT syndrome

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.8
    Latest signed off version: v3.7 (1 May 2024)

    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
    • Expert Review Red
    • South West GLH
    • London South GLH
    • North West GLH
    • UKGTN
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Long QT syndrome-4
    • Cardiac arrhythmia, ankyrin-B-related (600919)
    • Long QT syndrome 4 (600919)
    Red ANK2 in Brugada syndrome and cardiac sodium channel disease

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 3.10
    Latest signed off version: v3.9 (1 May 2024)

    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
    • North West GLH
    • Expert Review Red
    • Expert list
    Phenotypes
    • Brugada syndrome, MONDO:0015263
    Red ANK2 in Catecholaminergic polymorphic VT

    Level 3: Cardiac arrhythmia
    Level 2: Cardiovascular disorders
    Version 4.6
    Latest signed off version: v4.5 (1 May 2024)

    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
    • Expert Review Red
    • Expert list
    Phenotypes
    • catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
    Green ANK2 in Autism


    Version 0.36

    review Not set
    Sources
    • Expert Review Green
    • SFARI
    Amber ANK2 in Dilated and arrhythmogenic cardiomyopathy

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 2.25
    Latest signed off version: v2.23 (1 May 2024)

    Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Red ANK2 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • ANK2-related neurodevelopmental disorder
    Amber ANK2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.10
    Latest signed off version: v5.0 (1 May 2024)

    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 Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • epilepsy, MONDO:0005027
    Tags
    • Q1_24_promote_green
    Green ANK2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.12
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder, MONDO:0100038
    Amber ANK2 in Paediatric or syndromic cardiomyopathy


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Red ANK2 in Cardiac arrhythmias - additional genes


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Cardiac arrhythmias
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Long QT syndrome 4, 600919
    • Cardiac arrhythmia, ankyrin-B-related, 600919