Gene Dosage Curations

Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
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
CDY1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2017
CEBPE Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 View Details 05/31/2017
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 View Details 06/01/2017
CFC1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CFD Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CFL2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CFTR Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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
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 02/01/2018
CHD8 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/25/2018
CHKB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CHM Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
CHMP1A Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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 View Details 05/31/2017
CHSY1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CIDEC Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CLCF1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CLCN4 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/13/2017
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 View Details 02/13/2018
CLMP Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 View Details 02/08/2018
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
CNTN1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CNTN2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 View Details 05/31/2017
COLQ Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
COQ2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CORO1A Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
COX10 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
COX14 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
COX15 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
COX20 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
COX6B1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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 View Details 09/11/2017
CPN1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CPS1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CPT1A Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CRADD Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CREBBP Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
CRHR1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/07/2017
CRIPT Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CRKL No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/13/2017
CRTAP Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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
CSPP1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CSTB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CTCF Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 03/28/2018
CTDP1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CTH Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
CTNNB1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/22/2017
CTNND2 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
CTNS Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
CTSB No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2017
CUBN Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
CUL3 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/24/2018
CUL4B Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017