Gene Dosage Curations

Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
CDC42BPB Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/24/2018
CDH1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
CDH15 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CDH23 Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
CDHR1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CDK5RAP2 Gene Associated with Autosomal Recessive Phenotype View Details 10/16/2018
CDK6 Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
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 01/04/2019
CDT1 Gene Associated with Autosomal Recessive Phenotype View Details 10/18/2018
CDY1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2017
CEBPE Gene Associated with Autosomal Recessive Phenotype View Details 10/18/2018
CENPJ Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CENPP No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CEP164 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CEP290 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 03/12/2019
CEP78 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/23/2017
CERS3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CFAP53 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018
CFC1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CFD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CFL2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CFTR Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
CHAMP1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 03/27/2018
CHAT Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CHD1L No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/30/2018
CHD2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
CHD7 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
CHD8 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
CHKB Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
CHM Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CHMP1A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CHRDL1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CHRM3 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CHRNA7 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2018
CHST6 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CHSY1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
CIC Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/08/2018
CIDEC Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018
CLCF1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CLCN4 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
CLCN5 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CLCNKA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
CLCNKB Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
CLDN14 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/22/2018
CLMP Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CLN3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CLN8 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CLNK No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CLPP Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 03/06/2018
CLRN1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
CNGB1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CNKSR2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CNNM4 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CNOT3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/08/2018
CNTN1 Gene Associated with Autosomal Recessive Phenotype View Details 10/16/2018
CNTN2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CNTN4 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/29/2017
CNTN6 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 12/05/2017
CNTNAP2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
COG1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
COG4 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
COG7 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
COG8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
COL11A1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
COL1A1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
COL1A2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
COL2A1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/11/2018
COL3A1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
COL4A3 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/01/2018
COL4A5 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
COL5A1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/07/2018
COL9A1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
COL9A2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
COLEC11 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
COLQ Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
COQ2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/23/2018
CORO1A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/09/2018
COX10 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
COX14 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/09/2018
COX15 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/09/2018
COX20 Gene Associated with Autosomal Recessive Phenotype View Details 10/16/2018
COX6B1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CP Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CPA4 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CPLANE1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
CPN1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
CPS1 Gene Associated with Autosomal Recessive Phenotype View Details 10/25/2018
CPT1A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
CRADD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CREBBP Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
CRHR1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/07/2017
CRIPT Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
CRKL No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/13/2017
CRTAP Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
CRYBA1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CRYBB2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CRYGC No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CSF2RB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CSMD1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/24/2018