Gene Dosage Curations

Gene Haploinsufficiency Triplosensitivity Report Date
ESPN Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 02/07/2018
ETFB Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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 View Details 06/01/2017
EXPH5 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
EXT1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
EXT2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
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 View Details 05/31/2017
F13B Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 05/31/2017
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 06/01/2017
FADD Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FAM161A Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FAM20C Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
FAN1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FANCA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 12/06/2017
FANCB Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FANCC Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
FANCD2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FANCF Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FANCI Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
FARS2 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 06/01/2017
FBN1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
FBP1 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
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 06/13/2017
FGD4 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
FGF10 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FGF3 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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
FKBP14 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
FLCN Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
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 View Details 05/31/2017
FMR1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
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 05/11/2017
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 09/11/2017
FOXP2 Minimal Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
FOXRED1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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 View Details 05/31/2017
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 06/13/2017
FXN Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
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
GALC Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
GALK1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GALNS Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
GALNT3 Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
GALR1 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GALT Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GAMT Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
GAN Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GATA2 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GATA3 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GATA4 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GATA6 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/12/2017
GATAD1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GATAD2B Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 01/10/2018
GBA Gene Associated with Autosomal Recessive Phenotype No Evidence for Triplosensitivity View Details 06/01/2017
GBA2 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GBE1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GCDH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GCH1 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 05/31/2017
GCSH Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GDF2 No Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/01/2017
GDF5 Sufficient Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 07/19/2017
GDI1 Some Evidence for Haploinsufficiency No Evidence for Triplosensitivity View Details 06/13/2017
GFER Gene Associated with Autosomal Recessive Phenotype View Details 06/01/2017
GFM1 Gene Associated with Autosomal Recessive Phenotype View Details 05/31/2017
GIPC3 Gene Associated with Autosomal Recessive Phenotype View Details 02/08/2018