All individuals with variants in gene CUL4B

34 entries on 1 page. Showing entries 1 - 34.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/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) 1 1 Yu Sun
00016965 19377133-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016966 19377134-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016967 19377135-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016968 19377136-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016969 19377137-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016970 19377138-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016971 19377139-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00017006 - - - ? - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00017007 - - - M - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00017008 - - - M - ? (unknown) ? - 0 - - MRX;IDX - 1 1 Andreas Tzschach
00022446 - - - M no Netherlands Caucasian - 0 yes - MRX-15 - 1 3 Anneke Vulto-van Silfhout
00022447 - - - M ? Germany - - 0 yes - MRX-15 - 1 3 Anneke Vulto-van Silfhout
00022448 - - - M - (France) - - 0 - - MRX-15 - 1 3 Anneke Vulto-van Silfhout
00022449 - - - M - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00022450 - - - M - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00022451 - - - - - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00022452 - - - M - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00022453 - - - - - - - - 0 - - MRX-15 - 1 2 Anneke Vulto-van Silfhout
00022454 - - - - - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00022455 - - - - - - - - 0 - - MRX-15 - 1 2 Anneke Vulto-van Silfhout
00022456 - - - - - - - - 0 - - MRX-15 - 1 1 Anneke Vulto-van Silfhout
00024220 - PubMed: Wibley 2010 4-generation family, 7 affecteds, unafected carrier females M no - - - 0 - - MRX;IDX moderate ID, nonsyndromic 1 7 Johan den Dunnen
00154950 - - - M - (Germany) - - 0 - - - HP:0004482 (Relative macrocephaly) 1 1 IMGAG
00180165 29286531-Pat17 PubMed: Tumienė 2018 - - - (Slovenia) - - 0 - - ? Epilepsy (in infancy) (HP:0001250), moderate intellectual disability (HP:0002342), short stature (HP:0004322), facial dysmorphism (HP:0001999). 1 1 Johan den Dunnen
00183096 25644381-FamD112 PubMed: Hu 2016 family, 3 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00183097 25644381-FamP142 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183142 25644381-FamD203 PubMed: Hu 2016 family, 3 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 3 Johan den Dunnen
00183143 25644381-FamD102 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183144 25644381-FamP194 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183145 25644381-FamN146 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183146 25644381-FamT131 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00183147 25644381-FamD287 PubMed: Hu 2016 family, 2 affected, 3 unaffected heterozygous carrier females M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
Legend