Disease #03074 (CPVT2 (tachycardia, ventricular, catecholaminergic polymorphic, type 2), OMIM:611938)

Official abbreviation CPVT2
Name tachycardia, ventricular, catecholaminergic polymorphic, type 2
OMIM ID 611938
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 27
Phenotype entries for this disease 12
Associated with 1 gene CASQ2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

27 entries on 1 page. Showing entries 1 - 27.
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00102062 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia Associated with Catecholaminergic Ventricular Tachycardia phenotype only in the homozygous carriers. Heterozygous patients showed normal phenotype CASQ2 CASQ2 1 1 Johan den Dunnen
00102063 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia. The proband was heterozygous; in this family the CASQ2-related disease could be autosomal dominant but with a mild phenotype and very low penetrance CASQ2 CASQ2 1 1 Johan den Dunnen
00102064 16601229-? PubMed: Terentyev 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102065 12386154-? PubMed: Postma 2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia. Associated with Catecholaminergic Ventricular Tachycardia phenotype only in the homozygous carriers. Heterozygous patients showed normal phenotype CASQ2 CASQ2 1 1 Johan den Dunnen
00102066 18684293-? PubMed: deLa Fuente 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102069 16908766-? PubMed: Raffaele di Barletta 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102070 16908766-? PubMed: Raffaele di Barletta 2006 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102071 19709828-? PubMed: Wong 2009 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102072 18543230-? PubMed: Liu 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102073 20302875-? PubMed: Kirchhhefer 2010 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia. Possible autosomal dominat transmission CASQ2 CASQ2 1 1 Johan den Dunnen
00102074 11704930-? PubMed: Lahat2002 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00102075 18684293-? PubMed: deLa Fuente 2008 data copied from the Inherited arrhythmogenic diseases and cardiac ion channels database; - - - - - - - - CPVT2 Catecholaminergic Ventricular Tachycardia CASQ2 CASQ2 1 1 Johan den Dunnen
00204634 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204635 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204636 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204637 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 2 1 Joel Lunardi
00204638 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204639 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 Joel Lunardi
00204640 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204641 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 2 1 Joel Lunardi
00204642 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204643 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204644 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204646 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 2 1 Joel Lunardi
00204647 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204648 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 LOVD
00204649 - - - - - - - - - - - CPVT2 - CASQ2 CASQ2 1 1 Joel Lunardi
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