Gene Dosage Curations

Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
ELK1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ELN Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ELOA3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
EMX2 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
EN2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/27/2017
ENG Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
ENO3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
ENPP1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
EP300 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
EPB42 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
EPM2A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/13/2018
EPS8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/07/2018
ERCC1 Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
ERCC2 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
ERCC5 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
ERCC6L2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
ERCC8 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
ERF Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
ERMARD Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
ESCO2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
ESPN Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/07/2018
ETFB Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
ETFDH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
EVC2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 05/31/2017
EVX2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
EXOSC3 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/22/2018
EXPH5 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
EXT1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/04/2019
EXT2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/04/2019
EYA1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/01/2018
EYA4 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 02/01/2018
EYS Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
F10 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
F13A1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018
F13B Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
F5 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/11/2018
F7 Gene Associated with Autosomal Recessive Phenotype View Details 10/25/2018
F8 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
F9 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FA2H Gene Associated with Autosomal Recessive Phenotype View Details 10/17/2018
FADD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/13/2018
FAM161A Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
FAM20C Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
FAN1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/25/2018
FANCA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
FANCB Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/04/2019
FANCC Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
FANCD2 Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
FANCF Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
FANCI Gene Associated with Autosomal Recessive Phenotype View Details 01/07/2019
FARS2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/12/2018
FAS Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FASLG Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 01/07/2019
FBN1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FBP1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/17/2018
FBXO7 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FBXW11 No Evidence for Haploinsufficiency Minimal Evidence for Triplosensitiivty View Details 05/31/2017
FBXW4 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FGD1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
FGD4 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 11/12/2018
FGF10 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FGF3 Gene Associated with Autosomal Recessive Phenotype View Details 10/16/2018
FGFR1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FGFR3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FGFRL1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FHIT No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/24/2018
FKBP14 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018
FLCN Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/07/2019
FLG Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2017
FLNA Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FLNB No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FLVCR2 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/18/2018
FMR1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
FOLR1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/10/2018
FOXC1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/10/2017
FOXC2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/11/2017
FOXE1 Gene Associated with Autosomal Recessive Phenotype View Details 10/25/2018
FOXE3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 12/13/2017
FOXF1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FOXG1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/11/2017
FOXL2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/11/2017
FOXP1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
FOXP2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
FOXRED1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
FREM1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
FRMD7 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FSHB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FTCD Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
FTL No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FTSJ1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 10/10/2018
FXN Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/16/2018
FYCO1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
FZD4 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GAA Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GABRA1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 08/09/2017
GABRB3 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
GABRG2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 09/25/2018
GALC Gene Associated with Autosomal Recessive Phenotype View Details 11/09/2018
GALK1 Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018
GALNS Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 10/19/2018