All individuals with variants in gene POPDC2

8 entries on 1 page. Showing entries 1 - 8.
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VIP     
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Disease     
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Owner     
00445371 Fam10031Pat1/4 PubMed: Rinne 2020 2-generation family, affected twin brothers, unaffected carrier mother M - Albania - - - - - ? see paper; ..., severe atrioventricular block; fainting, dizziness, received pacemaker, see paper; ..., ventricular premature beats in patients, brother (Pat5) and father (Pat3) 1 2 Johan den Dunnen
00445372 Fam2 PubMed: Rinne 2020 2-generation family, affected mother/son F;M - Germany - - - - - ? see paper; ..., 1st degree atrioventricular block, mildly increased CK level 1 2 Johan den Dunnen
00466008 FamAPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes - - - - - - CCD see paper; ..., palpitations; no cardiac arrest; sinus pauses (3 s); AV conduction disease second atrioventricular block (type 1); atrial fibrillation, flutter; monomorphic non-sustained ventricular tachycardia, premature ventricular contractions; hypertrophic cardiomyopathy; cardiac MRI septal hypertrophy (23 mm); no myocarditis 1 1 Johan den Dunnen
00466009 FamBPatII4 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, affected sister/brother, unaffected parents/relatives M yes - - - - - - CCD see paper; ..., palpitations; sinus bradycardia; AV conduction disease PQ time of 200 ms second atrioventricular block; no atrial arrhythmia; no ventricular arrhythmia; hypertrophic cardiomyopathy; cardiac MRI septal hypertrophy (16mm); no myocarditis 1 2 Johan den Dunnen
00466010 FamCPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives M no - - - - - - CCD see paper; ..., no cardiac arrest; no sinus node disease; first and second atrioventricular block (type 1 and 2:1); atrial fibrillation, flutter; monomorphic non-sustained ventricular tachycardia; no hypertrophic cardiomyopathy; no myocarditis 1 3 Johan den Dunnen
00466011 FamCPatII2 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - CCD see paper; ..., no cardiac arrest; SA-block sinus pauses (5s); AV conduction disease first atrioventricular block; no atrial arrhythmia; no ventricular arrhythmia; no hypertrophic cardiomyopathy; no myocarditis 1 1 Johan den Dunnen
00466012 FamCPatII3 PubMed: Nicastro 2025, Journal: Nicastro 2025 brother M no - - - - - - CCD see paper; ..., cardiac arrest; cardiac arrest following bradycardia; SA block sinus arrest; AV conduction disease first and second atrioventricular block (type 1); episodes of high atrial rate; monomorphic non-sustained ventricular tachycardia; no hypertrophic cardiomyopathy; cardiac MRI possible myocarditis; possible myocarditis 1 1 Johan den Dunnen
00466013 FamDPatII1 PubMed: Nicastro 2025, Journal: Nicastro 2025 2-generation family, 1 affected, unaffected heterozygous carrier mother M no - - - - - - CCD see paper; ..., chest pain; cardiac arrest following bradycardia; no sinus node disease; AV conduction disease first atrioventricular block; no atrial arrhythmia; ventricular tachycardia; no hypertrophic cardiomyopathy; cardiac MRI significant LV fibrosis, inflammation; clinical myocarditis (not on cardiac histology) 2 1 Johan den Dunnen
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