Cardiology Wiki (Genetics)

Overview

• ClinGEN — clingen-summary-2026-05-09
• ClinGEN validity — ClinGen-Gene-Disease-Validity
• Genetic test in CMP — concepts/Genetic-Testing-in-Cardiomyopathy
• Genetic test in arrhythmias — concepts/Genetic-Testing-in-Arrhythmias
• Genetic test in AF — concepts/Genetic-Testing-in-AF
• Modifier genes — Modifier-Genes
• GWAS — GWAS-Cardiac-Genetics
• VUS — Incidental-Cardiovascular-Variants
• Cascade family screening — Cascade-Family-Screening
• DTC genetic testing — DTC-Genetic-Testing
• AAV gene delivery — AAV-Gene-Delivery
• SupRep therapy — SupRep-Therapy
• Gene silencing therapy — Gene-Silencing-Therapy
• GET — Gene-Editing-Risk-Benefit-Framework
• Gene therapy in arrhythmia (overview) — Gene-Therapy-in-Arrhythmia
• Gene therapy transduction threshold — Gene-Therapy-Transduction-Threshold

Channelopathy

• LQTS — Long-QT-Syndrome
• SQTS — Short-QT-Syndrome
• Brugada syndrome — Brugada-Syndrome
• CPVT — CPVT
• ERS — Early-Repolarization-Syndrome
• IVF — Idiopathic-Ventricular-Fibrillation
• CRISPR-Cas9 — CRISPR-Cas9-in-Channelopathies

LQTS genes

• KCNQ1 — KCNQ1
• KCNH2 — KCNH2
• CALM — Calmodulinopathy
• SCN5A — SCN5A

CPVT genes

• RYR2 — RYR2
• CASQ2 — CASQ2

Cardiomyopathies

• ARVC — ARVC
• ACM — Arrhythmogenic-Cardiomyopathy
• HCM — HCM
• HCM genetics and phenotypes — HCM-Genetics-and-Phenotypes
• DCM — DCM
• LV hypertrabeculation (trait across genotypes — MYH7 71%, TTN 38%, LMNA 5%) — LV-Hypertrabeculation
• Pregnancy in genetic cardiomyopathy — Pregnancy-in-Genetic-Cardiomyopathy

ARVC genes

• PKP2 — PKP2
• DSC2 — DSC2
• DSG2 — DSG2
• DSP — DSP
• TMEM43 — TMEM43

DCM genes

• TTN — TTN
• LMNA — LMNA
• FLNC — FLNC
• DES — DES

HCM genes

• MYBPC3 — MYBPC3
• MYH7 — MYH7
• PLN — PLN

Atrial cardiomyopathy genes

• Atrial standstill — Atrial-Standstill
• NPPA — NPPA
• EMD — EMD
• GJA5 (connexin 40) — modifier in the digenic SCN5A model; no page yet

Dyslipidemia

• PCSK9 — PCSK9-Inhibitors
• ANGPTL3 — ANGPTL3-Inhibition
• APOC3 — APOC3-Inhibition
• Gene therapy — Lipid-Gene-Therapy

Marfan syndrome

• Marfan syndrome — Marfan-Syndrome
• FBN1 — FBN1

Misc

• Desmosome — Desmosome
• Haploinsufficiency — Haploinsufficiency
• Titin PTM — Titin-PTMs
• Titin isoform switch — Titin-Isoform-Switch
• Noncoding RNA in CVD — Noncoding-RNA-in-CVD
• Pharmacogenomics in HF — Pharmacogenomics-in-HF
• CORIN — CORIN
• PRKAG2 — PRKAG2-Cardiac-Syndrome