Gene Dosage Curations

Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
CYB5A Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CYBB Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CYP21A2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
CYP24A1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CYP27A1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CYP4F22 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CYP4V2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
D2HGDH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DARS2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DAZ1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
DBH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DBT Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DCLRE1C Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DCX Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
DCXR Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DDB2 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
DDHD1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
DDOST Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DDX3X Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/22/2017
DGKE Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DGUOK Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DHCR7 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/13/2017
DHODH Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DICER1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
DIP2A Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/23/2019
DIRAS3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DISC1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DISP1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DKC1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DLG3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DLGAP2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DLK1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DLX1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DLX2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DLX5 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DLX6 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DMD Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
DMP1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DMRT1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DMRT2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DMXL2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DNAAF1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DNAH11 Gene Associated with Autosomal Recessive Phenotype View Details 05/12/2017
DNAH5 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DNAI1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DNAI2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DNAJB6 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DNAJC6 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DNASE1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DNMT3A Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/29/2018
DOCK7 Gene Associated with Autosomal Recessive Phenotype View Details 06/13/2017
DOCK8 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
DOK7 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DPAGT1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DPM1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DPM3 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
DPP6 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 12/26/2017
DPYD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/24/2018
DPYS Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DRD5 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
DSC2 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
DSC3 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DSCAM Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/24/2018
DSE Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DSG2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DSG4 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
DSP Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DSPP No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
DYM Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 12/06/2017
DYNC2H1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
DYRK1A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
EARS2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EBP Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
EDA Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
EDNRB Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/01/2018
EFNB1 Sufficient Evidence for Haploinsufficiency Minimal Evidence for Triplosensitiivty View Details 06/01/2017
EFTUD2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
EGR2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
EHMT1 Sufficient Evidence for Haploinsufficiency Minimal Evidence for Triplosensitiivty View Details 09/11/2017
EIF2AK3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EIF2B1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EIF2B3 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
EIF4A3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ELK1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ELN Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ELOA3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
EMX2 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
EN2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/27/2017
ENG Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ENO3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ENPP1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EP300 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
EPB42 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EPM2A Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
EPS8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/07/2018
ERCC1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ERCC2 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
ERCC5 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
ERCC6L2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ERCC8 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017