All individuals with variants in gene NLRP5

28 entries on 1 page. Showing entries 1 - 28.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00164469 - - - - - - - - - - - - - 1 1 Thomas Eggermann
00165246 SRS-38M - - F ? Germany - - - - - SRS;RSS - 1 1 Thomas Eggermann
00457392 Fam6PatII1 PubMed: Mu 2019 2-generation family, 2 affected sisters, unaffected parents F - China - - - - - INFF see paper; ... 2 2 Johan den Dunnen
00457393 Fam6PatII2 PubMed: Mu 2019 sister F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457394 FamPat7 PubMed: Mu 2019 3-generation family, 1 affected, unaffected parents F - China - - - - - INFF see paper; ... 2 1 Johan den Dunnen
00457395 Fam1 PubMed: Docherty 2015 mother of 2 affected children (F, M), 6 pregnancy losses and one termination (presumed molar pregnancy), with three unrelated partners; no methylation disturbances F - - - - - - - Healthy/Control - 2 3 Johan den Dunnen
00457396 Fam2 PubMed: Docherty 2015 mother of 2 affected children (2M), 4 pregnancy losses; no methylation disturbances F - - - - - - - Healthy/Control - 2 3 Johan den Dunnen
00457397 Fam3 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - - - - - - - Healthy/Control - 2 2 Johan den Dunnen
00457398 Fam4 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - Germany - - - - - Healthy/Control - 1 2 Johan den Dunnen
00457399 Fam5 PubMed: Docherty 2015 mother of affected child; no methylation disturbances F - - - - - - - Healthy/Control - 1 2 Johan den Dunnen
00457400 Fam1PatII2 PubMed: Docherty 2015 daughter F - - - - - - - MLID see paper; ..., Silver Russel syndrome (multilocus imprinting disturbances); birth 32w; 1 1 Johan den Dunnen
00457401 Fam2PatII4 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) 1 1 Johan den Dunnen
00457402 Fam3PatII2 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) 2 1 Johan den Dunnen
00457404 Fam5PatII3 PubMed: Balpe 2011, PubMed: Docherty 2015 daughter F - - - - - - - MLID see paper; ..., non-specific growth, developmental delay and unusual behaviour (multilocus imprinting disturbances) 1 1 Johan den Dunnen
00457405 Fam2PatII8 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., non-specific developmental and marked behavioural problems (autism, extreme separation anxiety), obesity (multilocus imprinting disturbances) 1 1 Johan den Dunnen
00457406 Fam1PatII8 PubMed: Docherty 2015 son M - - - - - - - MLID see paper; ..., Beckwith Wiedemann syndrome (multilocus imprinting disturbances) 1 1 Johan den Dunnen
00457440 Pat1 PubMed: Huang 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F yes China - - - - - INFF see paper; ..., oocyte maturation arrest at the germinal vesicle stage 1 1 Johan den Dunnen
00457443 Fam2 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment 2 1 Johan den Dunnen
00457444 Fam3 PubMed: Tong 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment 2 1 Johan den Dunnen
00457445 Fam4Pat4 PubMed: Tong 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - China - - - - - INFF see paper; ..., recurrent preimplantation embryonic arrest during assisted reproductive technology treatment 2 2 Johan den Dunnen
00457446 Fam4Pat5 PubMed: Tong 2022 sister F - China - - - - - INFF see paper; ..., 33y-history of spontaneous abortion; 43y-preimplantation embryonic arrest during assisted reproductive technology treatment 2 1 Johan den Dunnen
00458496 - - - F - - - - - - - OZEMA19 - 2 1 Changlong Zhang
00458497 - - - F - - - - - - - OZEMA19 - 1 1 Changlong Zhang
00458498 - - - - - - - - - - - OZEMA19 - 2 1 Changlong Zhang
00458499 - - - - - - - - - - - OZEMA19 - 1 1 Changlong Zhang
00458500 - - - - - - - - - - - OZEMA19 - 2 1 Changlong Zhang
00458501 - - - - - - - - - - - OZEMA19 - 2 1 Changlong Zhang
00458502 - - - - - - - - - - - OZEMA19 - 2 1 Changlong Zhang
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