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9 Possible Causes for Mutation in the CALM2 Gene

  • Long QT Syndrome 15

    循環器内科 概要 特色 診療実績 施設認定 医師紹介 お役立ちリンク 発表論文 学会発表、講演 概要 心筋梗塞、狭心症、不整脈、先天性心疾患等、すべての心臓疾患が診療対象です。胸痛、息切れ、動悸、失神、むくみでお悩みの方はおいでください。 当科は宮城県における先端医療(経皮的冠動脈形成術、高周波カテーテルアブレーション、植込型除細動器治療、心室再同期療法、睡眠呼吸補助療法)を担うとともに、24時間体制であらゆる循環器疾患の救急患者さんを受け入れております。 特色[…][nsmc.hosp.go.jp]

  • Catecholaminergic Polymorphic Ventricular Tachycardia

    […] 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] Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations.[ncbi.nlm.nih.gov] Genetic variants of CPVT include RyR2 , CASQ2 , CALM2 , TRD , and possibly KCNJ2 and ANK2 gene mutations.[doi.org]

  • Catecholaminergic Polymorphic Ventricular Tachycardia 1

    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]

  • 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]

  • 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]

  • Glycogen Storage Disease due to Muscle Phosphorylase Kinase Deficiency

    There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] PhK deficiency is very complex and many genes play a key role in the GSD IX phenotype; the spectrum includes autosomal recessive forms of GSD IX (caused by mutations in PHKB[bmcmedgenet.biomedcentral.com] , PHKG1, PHKG2, CALM1, CALM2, and CALM3 ) as well as the X-linked liver form (caused by mutations in PHKA2 ) and X-linked muscle form (caused by mutations in PHKA1 ).[bmcmedgenet.biomedcentral.com]

  • Phosphorylase Kinase Deficiency

    There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] PhK deficiency is very complex and many genes play a key role in the GSD IX phenotype; the spectrum includes autosomal recessive forms of GSD IX (caused by mutations in PHKB[bmcmedgenet.biomedcentral.com] , PHKG1, PHKG2, CALM1, CALM2, and CALM3 ) as well as the X-linked liver form (caused by mutations in PHKA2 ) and X-linked muscle form (caused by mutations in PHKA1 ).[bmcmedgenet.biomedcentral.com]

  • Jervell and Lange-Nielsen Syndrome 1

    A malignant form of LQTS associated to recurrent cardiac arrest due to VF in infants is associated to mutations in CALM1 and CALM2 genes encoding calmodulin (Crotti et al.[itaca.edu.es] Mutation carriers had recurrent cardiac arrest secondary to ventricular tachyarrhythmias, severely prolonged QTc interval ( 600 ms), evidence of electrically unstable myocardium[itaca.edu.es]

  • Glycogen Storage Disease due to Liver Phosphorylase Kinase Deficiency

    There are autosomal recessive forms of GSD IX (caused by mutations in PHKB, PHKG1, PHKG2, CALM1, CALM2, and CALM3 ), a X-linked liver form (caused by mutations in PHKA2 ),[bmcmedgenet.biomedcentral.com] PhK deficiency is very complex and many genes play a key role in the GSD IX phenotype; the spectrum includes autosomal recessive forms of GSD IX (caused by mutations in PHKB[bmcmedgenet.biomedcentral.com] , PHKG1, PHKG2, CALM1, CALM2, and CALM3 ) as well as the X-linked liver form (caused by mutations in PHKA2 ) and X-linked muscle form (caused by mutations in PHKA1 ).[bmcmedgenet.biomedcentral.com]

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