Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
A4GALT Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
AAGAB Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
AARS No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/11/2018
AARS2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
AASS Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ABAT Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ABCC8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 12/06/2017
ABCD1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
ABCG5 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ABCG8 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ABHD12 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/09/2018
ABR No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ACAD8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ACADM Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ACADSB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ACADVL Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ACOX1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
ACP5 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ACSF3 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ACSL4 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
ACTA2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ACTB No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ACTC1 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ACVRL1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ADA2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ADAM9 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ADAMTS13 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ADAMTS17 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ADAMTS18 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ADAMTS2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ADAMTSL2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ADGRG1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ADNP Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/22/2017
ADSL Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 12/06/2017
AFF2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
AGA Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
AGK Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
AGPAT2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
AGRN Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
AGT Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
AGTR2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
AGXT Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
AHCY Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
AHDC1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/28/2018
AHI1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 12/06/2017
AICDA Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
AIMP1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
AKT2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
AKT3 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ALAD Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALDH1A3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALDH3A2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ALDH4A1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ALDH5A1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ALDOA Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALG1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALG12 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALG2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALG6 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ALMS1 Gene Associated with Autosomal Recessive Phenotype View Details 02/08/2018
ALS2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ALX4 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
AMH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
AMN Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ANGPTL3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ANK2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 11/22/2017
ANKRD11 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
ANKS6 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ANOS1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ANTXR2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
AP1S2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
AP4B1 Gene Associated with Autosomal Recessive Phenotype View Details 09/11/2017
AP4S1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
APC Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
APOB No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
APOC2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
APP No Evidence for Haploinsufficiency Moderate Evidence for Triplosensitivity View Details 05/31/2017
AR Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ARCN1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/08/2017
ARFGEF2 Gene Associated with Autosomal Recessive Phenotype View Details 09/11/2017
ARG1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ARHGAP31 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ARHGEF4 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 04/05/2018
ARHGEF6 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ARHGEF9 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
ARID1A Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/12/2017
ARID1B Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
ARL6 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ARL6IP1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ARSA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
ARSD No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ARSE Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ARX Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
ASAH1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 09/11/2017
ASH1L Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/31/2018
ASL Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ASPA Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ASPH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ASPM Gene Associated with Autosomal Recessive Phenotype View Details 09/11/2017
ASXL1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017