Catecholaminergic Polymorphic Ventricular Tachycardia 1(Ventricular tachycardia, stress-induced polymorphic 1) Explore Disorder's Alias
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Candidate Gene Information
An Autosomal dominant, Autosomal recessive mode(s) within the Cardiovascular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | RYR2/6262 | ryanodine receptor 2 | 1q43 | Chr1, NC_000001.11 (237042184..237833988) |
791805 nt | 107 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | CASQ2/845 | calsequestrin 2 | 1p13.1 | Chr1, NC_000001.11 (115700021..115768714, complement) |
68694 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 3 | DSP/1832 | desmoplakin | 6p24.3 | Chr6, NC_000006.12 (7541671..7586714) |
45044 nt | 24 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 4 | TRDN/10345 | triadin | 6q22.31 | Chr6, NC_000006.12 (123216339..123636950, complement) |
420612 nt | 42 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities