All individuals with variants in gene PDK3

9 entries on 1 page. Showing entries 1 - 9.
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     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 2 1 Yu Sun
00210545 - PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00210546 - PubMed: Tarpey 2009 for details contact Lucy Raymond (flr24 @ cam.ac.uk) M - - - - 0 - - MRX;IDX - 1 1 Johan den Dunnen
00210547 23297365-PatM PubMed: Kennerson 2013 4-generation family, 8 affecteds M no Australia - - 0 - - CMT more severe then females 1 8 Johan den Dunnen
00210548 23297365-PatF PubMed: Kennerson 2013 4-generation family, 12 affected carrier females F no Australia - - 0 - - CMT mildly affected/asymptomatic 1 12 Johan den Dunnen
00210549 23297365-Fam2 PubMed: Kennerson 2013 family - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00210550 23297365-Fam3 PubMed: Kennerson 2013 family - - - - - 0 - - CMT - 1 1 Johan den Dunnen
00219094 28902413-Pat104 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - 0 - - CMT CMTX6 1 1 Johan den Dunnen
Legend   How to query