Gene Dosage Curations

Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
TWIST1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
TWIST2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
TYMP Gene Associated with Autosomal Recessive Phenotype View Details 10/18/2018
TYROBP Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
TYRP1 Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
UBE2A Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
UBE3A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
UBE3B Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
UBR1 Gene Associated with Autosomal Recessive Phenotype View Details 10/23/2018
UPB1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
UPF2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/13/2019
UPF3B Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
UROS Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
USH1C Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/08/2018
USH1G Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/22/2018
USH2A Gene Associated with Autosomal Recessive Phenotype View Details 02/08/2018
USP9X Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 03/28/2018
UVSSA Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
VAMP7 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
VCX3A No Evidence for Haploinsufficiency Dosage Sensitivity Unlikely View Details 06/01/2017
VEGFA Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
VHL Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
VLDLR Gene Associated with Autosomal Recessive Phenotype View Details 10/16/2018
VPS13A Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
VPS13B Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/10/2018
VPS26C No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
VPS37A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
VPS53 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
WAC Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/28/2018
WDFY3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/23/2018
WDPCP Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/13/2018
WDR35 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
WDR45 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
WDR60 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
WDR62 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
WDR72 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
WFS1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/01/2018
WHRN Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/08/2018
WISP3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
WNT7A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/23/2018
WRAP53 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
WRN Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
WT1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/04/2019
WWOX Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/08/2017
XDH Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/12/2018
XIAP Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
XPA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
XPC Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
XPNPEP3 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
XYLT1 Gene Associated with Autosomal Recessive Phenotype View Details 10/19/2018
YAP1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
YTHDC1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/24/2019
YWHAE No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZBTB18 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/24/2019
ZBTB24 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
ZC4H2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZDHHC15 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZDHHC9 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZEB2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
ZFPM2 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZFYVE26 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ZIC1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZIC2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
ZIC3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZIC4 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZIM2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZMYM3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZMYND11 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 03/28/2018
ZMYND15 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/23/2018
ZNF141 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ZNF264 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZNF407 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZNF41 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ZNF462 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/08/2018
ZNF592 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
ZNF674 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ZNF711 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/23/2018
ZNF81 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
ZWILCH Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/24/2019