All individuals with variants in gene PLN

21 entries on 1 page. Showing entries 1 - 21.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00016147 - - - ? ? Netherlands white - - - - CMH originally diagnosed with hypertrophic cardiomyopathy 1 1 Terry Vrijenhoek
00064031 - PubMed: Brun 2014, Journal: Brun 2014 - - - - - - - - - ARVC - 1 1 Johan den Dunnen
00064067 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064144 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064187 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00064222 - PubMed: Lopes 2013, Journal: Lopes 2013 analysis of 223 cases - - United Kingdom (Great Britain) - - - - - CMH - 1 1 Johan den Dunnen
00163922 17655857-FamDuPatII1 PubMed: Chiu 2007 4-generation family, affected daugther/mother (deceased) F no Australia Greek - - - - CMH 61y-ECG asymmetric septal hypertrophy maximum wall thickness 20 mm, normal systolic (contractile) function, no evidence of left ventricular dilatation; clinical history recurrent atrial fibrillation, palpitations, dyspnea, presyncope 1 1 Johan den Dunnen
00219204 Proband PubMed: Li 2018 - M yes China - - - - - CMD Angina pectoris (HP:0001681), palpitations (HP:0001962), Dyspnea HP:0002094, Cardiomegaly HP:0001640, Severely reduced ejection fraction HP:0012666, Increased NT-proBNP level HP:0031185, Increased troponin I level in blood HP:0410173, Atrial fibrillation HP:0005110, (incomplete) right bundle branch block HP:0011712 1 1 Jilani Jawaid
00316714 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316715 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316716 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316717 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00316718 - PubMed: Walsh 2017 - - - United Kingdom (Great Britain) - - - - - CM - 1 1 Johan den Dunnen
00317592 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317593 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317864 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317865 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317866 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00317867 - PubMed: Walsh 2017 - - - United States - - - - - CM - 1 1 Johan den Dunnen
00372041 BLX1 PubMed: Singer 2021 - - - Australia - - - - - LQT - 1 1 Johan den Dunnen
00376394 Pat006 PubMed: Nguyen 2021 - - - Viet Nam - - - - - CMD - 1 1 Johan den Dunnen
Legend   How to query