All individuals with variants in gene PLD1

22 entries on 1 page. Showing entries 1 - 22.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
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VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
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Owner     
00303392 FamA PubMed: Ta-Shma 2017 2-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents F;M yes Israel - - - - - CHD see paper; ... 1 3 Johan den Dunnen
00303393 FamBPatII1 PubMed: Ta-Shma 2017 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F;M yes Israel - - - - - CHD see paper; ... 1 3 Johan den Dunnen
00303394 FamA Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - yes Netherlands - - - - - CHD see paper; ... 1 2 Johan den Dunnen
00303395 FamB Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303396 FamC Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303397 FamD Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 2 Johan den Dunnen
00303398 FamE Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 2 Johan den Dunnen
00303399 FamF Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M - - - - - - - CHD see paper; ... 2 2 Johan den Dunnen
00303400 FamG Lahrouchi ESHG2020 C05.3 2-generation family, 2 affected, unaffected heterozygous carrier parents M yes - Jewish-Ashkenazi - - - - CHD see paper; ... 1 2 Johan den Dunnen
00303401 FamH Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - CHD see paper; ... 1 1 Johan den Dunnen
00303402 FamI Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - Jewish-Ashkenazi - - - - CHD see paper; ... 1 1 Johan den Dunnen
00303403 FamJ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CHD see paper; ... 1 1 Johan den Dunnen
00303404 FamK Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303405 FamL Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303406 FamM Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303407 FamP Lahrouchi ESHG2020 C05.3 2-generation family, 3 affected fetuses, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303408 FamQ Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - - - - - - - - CHD see paper; ... 2 3 Johan den Dunnen
00303409 FamR Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00303410 FamS Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - CHD see paper; ..., neonatal cardiomyopathy; 3d-died circulatory failure 2 1 Johan den Dunnen
00303411 FamT Lahrouchi ESHG2020 C05.3 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - CHD see paper; ..., neonatal histiocytoid cardiomyopathy; 8d-died 2 1 Johan den Dunnen
00303412 FamBPatII3 PubMed: Ta-Shma 2017 distant relative M - Israel - - - - - CHD see paper; ... 2 1 Johan den Dunnen
00447729 283496 - prenatal trio exom after ultrasound abnormalities; family, 2 affected F yes Saudi Arabia - - - - - CVDP1 Abnormality of prenatal development or birth, Abnormal fetal cardiovascular morphology, Biparietal narrowing, Muscular ventricular septal defect, Endocardial fibroelastosis, Coronary cameral fistula to right ventricle 1 2 Andreas Laner
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