Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report
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
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 View Details | 05/31/2017
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 | 05/31/2017
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
ADSL Gene Associated with Autosomal Recessive Phenotype View Details | 09/11/2017
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
AHI1 Gene Associated with Autosomal Recessive Phenotype View Details | 05/31/2017
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