All individuals with variants in gene TECRL

11 entries on 1 page. Showing entries 1 - 11.
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AscendingIndividual ID     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00469722 Pat1 PubMed: Devalla 2016 - F yes Canada French-Canadian - - - - CPVT see paper; ..., 22y-ventricular fibrillation, cardiac arrest; ECG normal QT interval, isoproterenol infusion resulted in QT prolongation; recurrent episodes exercise‐/emotion‐induced atrial/ventricular arrhythmias 1 1 Johan den Dunnen
00469724 Pat2 PubMed: Devalla 2016 - F - Canada French-Canadian - - - - LQT see paper; ..., 18y-numerous syncopal episodes triggered by emotional stress, non‐sustained VT during exercise stress testing; 31y-aborted cardiac arrest; adrenergic atrial/ventricular arrhythmia 1 1 Johan den Dunnen
00469726 FamPatIV13 PubMed: Devalla 2016 4-generation family, 7 affected (3F, 4M), unaffected heterozygous carrier parents/relatives M - Sudan - - - - - LQT see paper; ... 1 7 Johan den Dunnen
00469728 FamPatII1 PubMed: Xie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no China - - - - - CPVT see paper; ..., intermittent palpitations, three syncope episodes triggered by emotional stress/exercises; ECG resting normal, no prolonged QT interval 2 1 Johan den Dunnen
00469729 Fam1Pat1 PubMed: Moscu-Gregor 2020 5-generation family, 1 affected, unaffected heterozygous carrier parents M yes Germany white - - - - CPVT see paper; ... 1 1 Johan den Dunnen
00469730 Fam2Pat2 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F - Germany - - - - - CPVT see paper; ... 2 1 Johan den Dunnen
00469731 Fam3Pat3/4 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, unaffected carrier children F;M - Germany - - - - - CPVT see paper; ... 1 2 Johan den Dunnen
00469732 Fam4Pat5 PubMed: Moscu-Gregor 2020 2-generation family, 1 affected, unaffected parents, F - Germany - - - - - CPVT see paper; ... 1 1 Johan den Dunnen
00469733 patient PubMed: Jones 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - CPVT see paper; ..., 12y-cardiac arrest; HP:0006682 (premature ventricular contractions), -HP:0001663 (no ventricular fibrillation), HP:0004751 (paroxysmal ventricular tachycardia), HP:0001695 (cardiac arrest), -HP:0001962 (no palpitations), HP:0001657 (prolonged QTc), HP:0000729 (autistic behavior), HP:0031195 (apical hypertrabeculation of the left ventricle 2 1 Johan den Dunnen
00469734 Pat12 PubMed: Kulbachinskaya 2024 - - - Russia - - - - - CPVT see paper; ... 1 1 Johan den Dunnen
00469735 patient PubMed: Chen 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - CPVT see paper; ..., sudden cardiopulmonary arrest; frequent ventricular fibrillation 2 1 Johan den Dunnen
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