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30 Possible Causes for Caused by Mutation in the Calsequestrin 2 Gene, Mutation in the CALM2 Gene

  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 2

    2 (CASQ2) gene.[ncbi.nlm.nih.gov] […] that have been discovered and only represent a small percentage of CPVT cases are TRDN (encoding triadin) and CALM1 (encoding calmodulin). 5,6 Mutations in the CALM2 gene[doi.org] Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal[ncbi.nlm.nih.gov]

  • Long QT Syndrome 15

    エントリ H00720 名称 QT 延長症候群 下位グループ ロマノワード症候群 ジャーベル・ランゲ・ニールセン症候群 [DS: H02091 ] 概要 QT 延長症候群は心電図の QT 間隔の異常な延長と失神発作を示す心血管障害である。他の疾患や薬物の影響で起こる後天性と、心筋細胞のイオンチャネルをコードする遺伝子の異常による先天性がある。発作のないときは無症状であるが、発作時はトルサド・ド・ポアンツ (Tdp) と呼ばれる心室性不整脈を特徴とし、適切な医療処置を行わないと心室細動に移行して死亡することもある。QT[…][genome.jp]

    Missing: Caused by Mutation in the Calsequestrin 2 Gene
  • Long QT Syndrome

    RESULTS: A novel de novo CALM2 mutation (D132H) was discovered by candidate gene screening in a male infant with prenatal bradycardia born to healthy parents.[ncbi.nlm.nih.gov] LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] […] to selectively suppress the mutant gene while sparing the wild-type counterparts.[ncbi.nlm.nih.gov]

    Missing: Caused by Mutation in the Calsequestrin 2 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia Type 5

    Abstract Mutations of two myocardial calcium signaling molecules, ryanodine receptor 2 (RYR2) and calsequestrin 2 (CASQ2), may cause catecholaminergic polymorphic ventricular[nature.com] 55% to 65% of cases, and the cardiac calsequestrin gene ( CASQ2 ), seen much less frequently in approximately 2% of CPVT cases.[orpha.net] 3, 4, 5, 6 Lahat et al 7 described the recessive form of the disease, localized the disease-causing gene to chromosome 1p13—21, 7 and subsequently identified a missense mutation[nature.com]

    Missing: Mutation in the CALM2 Gene
  • Bidirectional Tachycardia

    55% to 65% of cases, and the cardiac calsequestrin gene (CASQ2), seen much less frequently in approximately 2% of CPVT cases.[orpha.net] Etiology The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor (RyR2) gene, which is the cause of CPVT in approximately[orpha.net] Mutations on the KCNJ2 gene, which in the majority of cases is linked with Andersen syndrome (see this term), can produce adrenergic-dependent bidirectional tachycardia in[orpha.net]

    Missing: Mutation in the CALM2 Gene
  • Ventricular Tachycardia

    Catecholaminergic polymorphic ventricular tachycardia is caused by mutations in genes encoding ryanodine receptor type 2 (RyR2) and cardiac calsequestrin (CASQ2).[ncbi.nlm.nih.gov]

    Missing: Mutation in the CALM2 Gene
  • Catecholaminergic Polymorphic Ventricular Tachycardia

    RYR2, CASQ2, KCNJ2 , ANK2, CALM1, CALM2, TRDN, SCN5A* Other Panels that Include this Diagnosis Notes on Genes: Priority Genes: These genes include 70% of the mutations that[admerahealth.com]

    Missing: Caused by Mutation in the Calsequestrin 2 Gene
  • Paroxysmal Ventricular Tachycardia

    55% to 65% of cases, and the cardiac calsequestrin gene ( CASQ2 ), seen much less frequently in approximately 2% of CPVT cases.[orpha.net] Etiology The two genes responsible for CPVT that have been discovered to date, are the cardiac ryanodine receptor ( RyR2 ) gene, which is the cause of CPVT in approximately[orpha.net] Mutations on the KCNJ2 gene, which in the majority of cases is linked with Andersen syndrome (see this term), can produce adrenergic-dependent bidirectional tachycardia in[orpha.net]

    Missing: Mutation in the CALM2 Gene
  • Lenegre Disease

    , a recessive form, caused by mutations in calsequestrin ( CASQ2 ) (CPVT Type 2), located on 1p13–p21. 94 – 96 These genes are key players in the storage and calcium release[nature.com] First, an autosomal dominant form caused by mutations ( 120 have been identified to date) in the RyR2 gene (1q42–q43), encoding the ryanodine receptor (CPVT Type 1). 93 Second[nature.com]

    Missing: Mutation in the CALM2 Gene
  • Ventricular Arrhythmia

    LQT15LQT15 is caused by heterozygous mutations in the CALM2 (Calmodulin 2) gene (114182) on chromosome 2p21.[en.wikipedia.org] LQT14LQT14 is caused by heterozygous mutations in the CALM1 (Calmodulin 1) gene (114180) on chromosome 14q32.[en.wikipedia.org] LQT16LQT16 is caused by heterozygous mutations in the CALM3 (Calmodulin 3) gene (114183) on chromosome 19q13. LQTS is classified a form of channelopathy.[en.wikipedia.org]

    Missing: Caused by Mutation in the Calsequestrin 2 Gene

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