Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
ASXL3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/22/2017
ATCAY Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATF6 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ATP10A No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ATP13A2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATP2A1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATP6AP2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ATP6V0A2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATP6V0A4 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATP6V1E1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ATP7A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
ATP7B Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ATP8A2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ATPAF2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ATRX Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
AUTS2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
AVPR2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
B3GALNT2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
B3GALT6 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
B4GALT1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
B4GALT7 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
B9D1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BAG3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BBS12 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BBS5 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
BBS7 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BCHE Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BCKDHB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BCKDK Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
BCL11A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
BCL2L11 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/21/2018
BCOR Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
BCR No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BCS1L Gene Associated with Autosomal Recessive Phenotype View Details 02/07/2018
BIN1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BLM Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BLNK Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
BMP4 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
BMPER Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
BMPR1A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BMPR2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BPY2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
BRAF Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
BRAT1 Gene Associated with Autosomal Recessive Phenotype View Details 09/11/2017
BRCA1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BRCA2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
BRWD3 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
BSND Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/09/2018
BTD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
BTK Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
BTRC No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
C15orf41 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
C19orf12 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
C1QB Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
C8orf37 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CA12 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CA5A Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CA8 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CABP4 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CACNA1A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CACNA1C Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
CACNA1S No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CADPS2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CAMTA1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 12/14/2017
CANT1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CAPN3 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CARD14 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CASK Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
CASQ2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CASR No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CATSPER2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
CBFB No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CBL No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CBS Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
CC2D2A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
CCBE1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CCDC103 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CCDC39 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CCDC40 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CCDC8 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CCNQ Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CCT5 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CD19 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CD27 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CD36 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CD3D Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CD3E Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
CD3G Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CD59 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CD8A Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CDAN1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CDH1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CDH15 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CDH23 Gene Associated with Autosomal Recessive Phenotype View Details 02/07/2018
CDHR1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CDK5RAP2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CDK6 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CDKL5 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
CDKN1C Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CDT1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017