Catecholaminergic polymorphic ventricular tachycardia classification: Difference between revisions
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==Classification== | ==Classification== | ||
[[CPVT]] may be classified based upon the underlying pathogenic [[mutation]] into the following subtypes: | |||
{| class="wikitable" | |||
|- | |||
[ | ! Type | ||
! [[OMIM]] | |||
! Gene | |||
! Protein | |||
! Mode of inheritance | |||
! Locus | |||
|- | |||
| CPVT1 | |||
[ | | {{OMIM2|604772}} | ||
| ''[[ryanodine receptor 2|RyR2]]'' | |||
| [[Ryanodine receptor 2]] | |||
| [[Autosomal dominant]] | |||
| 1q42.1-q43 | |||
[ | |- | ||
| CPVT2 | |||
| {{OMIM2|611938}} | |||
| ''[[Calsequestrin|CASQ2]]'' | |||
| [[Calsequestrin|Calsequestrin 2]] | |||
| [[Autosomal recessive]] | |||
| 1p13.3-p11 | |||
|- | |||
| CPVT3 | |||
| {{OMIM2|614021}} | |||
| ''Unknown'' | |||
'' | | - | ||
| [[Autosomal recessive]] | |||
| 7p14–p22 | |||
|- | |||
| CPVT4 | |||
| {{OMIM2|614916}} | |||
| ''[[Calmodulin 1|CALM1]]'' | |||
| [[Calmodulin 1]] | |||
| [[Autosomal dominant]] | |||
| 14q32.11 | |||
|- | |||
| CPVT5 | |||
| {{OMIM2|615441}} | |||
| ''[[TRDN]]'' | |||
| [[Triadin]] | |||
| [[Autosomal recessive]] | |||
| 6q22.31 | |||
|} | |||
==References== | ==References== |
Revision as of 18:48, 22 July 2020
Catecholaminergic polymorphic ventricular tachycardia Microchapters |
Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Catecholaminergic polymorphic ventricular tachycardia can be classified based upon the underlying pathogenic mutation.
Classification
CPVT may be classified based upon the underlying pathogenic mutation into the following subtypes:
Type | OMIM | Gene | Protein | Mode of inheritance | Locus |
---|---|---|---|---|---|
CPVT1 | 604772 | RyR2 | Ryanodine receptor 2 | Autosomal dominant | 1q42.1-q43 |
CPVT2 | 611938 | CASQ2 | Calsequestrin 2 | Autosomal recessive | 1p13.3-p11 |
CPVT3 | 614021 | Unknown | - | Autosomal recessive | 7p14–p22 |
CPVT4 | 614916 | CALM1 | Calmodulin 1 | Autosomal dominant | 14q32.11 |
CPVT5 | 615441 | TRDN | Triadin | Autosomal recessive | 6q22.31 |