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Prepair 1000+ v0.0 HOXA1 Zornitza Stark gene: HOXA1 was added
gene: HOXA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Prepair 1000+ v0.0 HMGCS2 Zornitza Stark gene: HMGCS2 was added
gene: HMGCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)
Prepair 1000+ v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)
Prepair 1000+ v0.0 HLCS Zornitza Stark gene: HLCS was added
gene: HLCS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)
Prepair 1000+ v0.0 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Prepair 1000+ v0.0 HINT1 Zornitza Stark gene: HINT1 was added
gene: HINT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)
Prepair 1000+ v0.0 HIBCH Zornitza Stark gene: HIBCH was added
gene: HIBCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
Prepair 1000+ v0.0 HGSNAT Zornitza Stark gene: HGSNAT was added
gene: HGSNAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)
Prepair 1000+ v0.0 HFE2 Zornitza Stark gene: HFE2 was added
gene: HFE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)
Prepair 1000+ v0.0 HEXB Zornitza Stark gene: HEXB was added
gene: HEXB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)
Prepair 1000+ v0.0 HEXA Zornitza Stark gene: HEXA was added
gene: HEXA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)
Prepair 1000+ v0.0 HESX1 Zornitza Stark gene: HESX1 was added
gene: HESX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)
Prepair 1000+ v0.0 HES7 Zornitza Stark gene: HES7 was added
gene: HES7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
Prepair 1000+ v0.0 HERC2 Zornitza Stark gene: HERC2 was added
gene: HERC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)
Prepair 1000+ v0.0 HEPACAM Zornitza Stark gene: HEPACAM was added
gene: HEPACAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Prepair 1000+ v0.0 HCFC1 Zornitza Stark gene: HCFC1 was added
gene: HCFC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)
Prepair 1000+ v0.0 HBB Zornitza Stark gene: HBB was added
gene: HBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)
Prepair 1000+ v0.0 HAX1 Zornitza Stark gene: HAX1 was added
gene: HAX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
Prepair 1000+ v0.0 HAMP Zornitza Stark gene: HAMP was added
gene: HAMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)
Prepair 1000+ v0.0 HADHB Zornitza Stark gene: HADHB was added
gene: HADHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)
Prepair 1000+ v0.0 HADHA Zornitza Stark gene: HADHA was added
gene: HADHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)
Prepair 1000+ v0.0 HADH Zornitza Stark gene: HADH was added
gene: HADH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)
Prepair 1000+ v0.0 HACE1 Zornitza Stark gene: HACE1 was added
gene: HACE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive
Prepair 1000+ v0.0 GYS2 Zornitza Stark gene: GYS2 was added
gene: GYS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)
Prepair 1000+ v0.0 GUSB Zornitza Stark gene: GUSB was added
gene: GUSB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)
Prepair 1000+ v0.0 GUCY2D Zornitza Stark gene: GUCY2D was added
gene: GUCY2D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)
Prepair 1000+ v0.0 GUCY2C Zornitza Stark gene: GUCY2C was added
gene: GUCY2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)
Prepair 1000+ v0.0 GUCY1A3 Zornitza Stark gene: GUCY1A3 was added
gene: GUCY1A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)
Prepair 1000+ v0.0 GTPBP3 Zornitza Stark gene: GTPBP3 was added
gene: GTPBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3)
Prepair 1000+ v0.0 GTF2H5 Zornitza Stark gene: GTF2H5 was added
gene: GTF2H5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)
Prepair 1000+ v0.0 GSS Zornitza Stark gene: GSS was added
gene: GSS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)
Prepair 1000+ v0.0 GRM1 Zornitza Stark gene: GRM1 was added
gene: GRM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)
Prepair 1000+ v0.0 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)
Prepair 1000+ v0.0 GPSM2 Zornitza Stark gene: GPSM2 was added
gene: GPSM2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)
Prepair 1000+ v0.0 GPR179 Zornitza Stark gene: GPR179 was added
gene: GPR179 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)
Prepair 1000+ v0.0 GPR143 Zornitza Stark gene: GPR143 was added
gene: GPR143 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)
Prepair 1000+ v0.0 GPHN Zornitza Stark gene: GPHN was added
gene: GPHN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)
Prepair 1000+ v0.0 GPC6 Zornitza Stark gene: GPC6 was added
gene: GPC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)
Prepair 1000+ v0.0 GPC3 Zornitza Stark gene: GPC3 was added
gene: GPC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)
Prepair 1000+ v0.0 GPAA1 Zornitza Stark gene: GPAA1 was added
gene: GPAA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive
Prepair 1000+ v0.0 GOSR2 Zornitza Stark gene: GOSR2 was added
gene: GOSR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)
Prepair 1000+ v0.0 GORAB Zornitza Stark gene: GORAB was added
gene: GORAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)
Prepair 1000+ v0.0 GNS Zornitza Stark gene: GNS was added
gene: GNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)
Prepair 1000+ v0.0 GNPTG Zornitza Stark gene: GNPTG was added
gene: GNPTG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)
Prepair 1000+ v0.0 GNPTAB Zornitza Stark gene: GNPTAB was added
gene: GNPTAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)
Prepair 1000+ v0.0 GNPAT Zornitza Stark gene: GNPAT was added
gene: GNPAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)
Prepair 1000+ v0.0 GNE Zornitza Stark gene: GNE was added
gene: GNE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)
Prepair 1000+ v0.0 GNB5 Zornitza Stark gene: GNB5 was added
gene: GNB5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive
Prepair 1000+ v0.0 GNAT2 Zornitza Stark gene: GNAT2 was added
gene: GNAT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GNAT2 were set to Achromatopsia-4, 613856 (3)
Prepair 1000+ v0.0 GMPPB Zornitza Stark gene: GMPPB was added
gene: GMPPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)
Prepair 1000+ v0.0 GMPPA Zornitza Stark gene: GMPPA was added
gene: GMPPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)
Prepair 1000+ v0.0 GM2A Zornitza Stark gene: GM2A was added
gene: GM2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, 272750 (3)
Prepair 1000+ v0.0 GLYCTK Zornitza Stark gene: GLYCTK was added
gene: GLYCTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)
Prepair 1000+ v0.0 GLIS3 Zornitza Stark gene: GLIS3 was added
gene: GLIS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
Prepair 1000+ v0.0 GLE1 Zornitza Stark gene: GLE1 was added
gene: GLE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Prepair 1000+ v0.0 GLDN Zornitza Stark gene: GLDN was added
gene: GLDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive
Prepair 1000+ v0.0 GLDC Zornitza Stark gene: GLDC was added
gene: GLDC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)
Prepair 1000+ v0.0 GLB1 Zornitza Stark gene: GLB1 was added
gene: GLB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
Prepair 1000+ v0.0 GLA Zornitza Stark gene: GLA was added
gene: GLA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GLA were set to Fabry disease, 301500 (3)
Prepair 1000+ v0.0 GK Zornitza Stark gene: GK was added
gene: GK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)
Prepair 1000+ v0.0 GJC2 Zornitza Stark gene: GJC2 was added
gene: GJC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804 (3)
Prepair 1000+ v0.0 GJA1 Zornitza Stark gene: GJA1 was added
gene: GJA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1, 241550 (3)
Prepair 1000+ v0.0 GHR Zornitza Stark gene: GHR was added
gene: GHR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)
Prepair 1000+ v0.0 GFPT1 Zornitza Stark gene: GFPT1 was added
gene: GFPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)
Prepair 1000+ v0.0 GFM1 Zornitza Stark gene: GFM1 was added
gene: GFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)
Prepair 1000+ v0.0 GDI1 Zornitza Stark gene: GDI1 was added
gene: GDI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3)
Prepair 1000+ v0.0 GDF5 Zornitza Stark gene: GDF5 was added
gene: GDF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)
Prepair 1000+ v0.0 GDF1 Zornitza Stark gene: GDF1 was added
gene: GDF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)
Prepair 1000+ v0.0 GDAP1 Zornitza Stark gene: GDAP1 was added
gene: GDAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)
Prepair 1000+ v0.0 GCH1 Zornitza Stark gene: GCH1 was added
gene: GCH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)
Prepair 1000+ v0.0 GCDH Zornitza Stark gene: GCDH was added
gene: GCDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)
Prepair 1000+ v0.0 GBE1 Zornitza Stark gene: GBE1 was added
gene: GBE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)
Prepair 1000+ v0.0 GBA2 Zornitza Stark gene: GBA2 was added
gene: GBA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive, 614409 (3)
Prepair 1000+ v0.0 GBA Zornitza Stark gene: GBA was added
gene: GBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GBA were set to Gaucher disease, perinatal lethal, 608013 (3)
Prepair 1000+ v0.0 GATM Zornitza Stark gene: GATM was added
gene: GATM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)
Prepair 1000+ v0.0 GAS8 Zornitza Stark gene: GAS8 was added
gene: GAS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAS8 were set to Ciliary dyskinesia, primary, 33, 616726 (3), Autosomal recessive
Prepair 1000+ v0.0 GAN Zornitza Stark gene: GAN was added
gene: GAN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAN were set to Giant axonal neuropathy-1, 256850 (3)
Prepair 1000+ v0.0 GAMT Zornitza Stark gene: GAMT was added
gene: GAMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)
Prepair 1000+ v0.0 GALT Zornitza Stark gene: GALT was added
gene: GALT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)
Prepair 1000+ v0.0 GALNS Zornitza Stark gene: GALNS was added
gene: GALNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)
Prepair 1000+ v0.0 GALC Zornitza Stark gene: GALC was added
gene: GALC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALC were set to Krabbe disease, 245200 (3)
Prepair 1000+ v0.0 GAA Zornitza Stark gene: GAA was added
gene: GAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)
Prepair 1000+ v0.0 G6PC3 Zornitza Stark gene: G6PC3 was added
gene: G6PC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)
Prepair 1000+ v0.0 G6PC Zornitza Stark gene: G6PC was added
gene: G6PC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)
Prepair 1000+ v0.0 FYCO1 Zornitza Stark gene: FYCO1 was added
gene: FYCO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FYCO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FYCO1 were set to Cataract 18, autosomal recessive, 610019 (3)
Prepair 1000+ v0.0 FUCA1 Zornitza Stark gene: FUCA1 was added
gene: FUCA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)
Prepair 1000+ v0.0 FTSJ1 Zornitza Stark gene: FTSJ1 was added
gene: FTSJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)
Prepair 1000+ v0.0 FTO Zornitza Stark gene: FTO was added
gene: FTO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTO were set to Growth retardation, developmental delay, coarse facies, and early death, 612938 (3)
Prepair 1000+ v0.0 FTCD Zornitza Stark gene: FTCD was added
gene: FTCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency, 229100 (3)
Prepair 1000+ v0.0 FRRS1L Zornitza Stark gene: FRRS1L was added
gene: FRRS1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRRS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRRS1L were set to Epileptic encephalopathy, early infantile, 37, 616981 (3), Autosomal recessive
Prepair 1000+ v0.0 FREM2 Zornitza Stark gene: FREM2 was added
gene: FREM2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)
Prepair 1000+ v0.0 FREM1 Zornitza Stark gene: FREM1 was added
gene: FREM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Prepair 1000+ v0.0 FRAS1 Zornitza Stark gene: FRAS1 was added
gene: FRAS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)
Prepair 1000+ v0.0 FOXRED1 Zornitza Stark gene: FOXRED1 was added
gene: FOXRED1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 FOXP3 Zornitza Stark gene: FOXP3 was added
gene: FOXP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3)
Prepair 1000+ v0.0 FOXN1 Zornitza Stark gene: FOXN1 was added
gene: FOXN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)
Prepair 1000+ v0.0 FOXE3 Zornitza Stark gene: FOXE3 was added
gene: FOXE3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOXE3 were set to Aphakia, congenital primary, 610256 (3)
Prepair 1000+ v0.0 FOLR1 Zornitza Stark gene: FOLR1 was added
gene: FOLR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FOLR1 were set to Neurodegeneration due to cerebral folate transport deficiency, 613068 (3)
Prepair 1000+ v0.0 FMR1 Zornitza Stark gene: FMR1 was added
gene: FMR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FMR1 were set to Fragile X syndrome
Prepair 1000+ v0.0 FLVCR2 Zornitza Stark gene: FLVCR2 was added
gene: FLVCR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR2 were set to Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome, 225790 (3)
Prepair 1000+ v0.0 FLVCR1 Zornitza Stark gene: FLVCR1 was added
gene: FLVCR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Ataxia, posterior column, with retinitis pigmentosa, 609033 (3)
Prepair 1000+ v0.0 FLNB Zornitza Stark gene: FLNB was added
gene: FLNB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLNB were set to Spondylocarpotarsal synostosis syndrome, 272460 (3)
Prepair 1000+ v0.0 FLNA Zornitza Stark gene: FLNA was added
gene: FLNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)
Prepair 1000+ v0.0 FLAD1 Zornitza Stark gene: FLAD1 was added
gene: FLAD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLAD1 were set to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive
Prepair 1000+ v0.0 FKTN Zornitza Stark gene: FKTN was added
gene: FKTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)
Prepair 1000+ v0.0 FKRP Zornitza Stark gene: FKRP was added
gene: FKRP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)
Prepair 1000+ v0.0 FKBP14 Zornitza Stark gene: FKBP14 was added
gene: FKBP14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP14 were set to Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3)
Prepair 1000+ v0.0 FKBP10 Zornitza Stark gene: FKBP10 was added
gene: FKBP10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)
Prepair 1000+ v0.0 FIG4 Zornitza Stark gene: FIG4 was added
gene: FIG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FIG4 were set to Yunis-Varon syndrome, 216340 (3)
Prepair 1000+ v0.0 FHL1 Zornitza Stark gene: FHL1 was added
gene: FHL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)
Prepair 1000+ v0.0 FH Zornitza Stark gene: FH was added
gene: FH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)
Prepair 1000+ v0.0 FGG Zornitza Stark gene: FGG was added
gene: FGG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital, 202400 (3)
Prepair 1000+ v0.0 FGD4 Zornitza Stark gene: FGD4 was added
gene: FGD4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGD4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGD4 were set to Charcot-Marie-Tooth disease, type 4H, 609311 (3)
Prepair 1000+ v0.0 FGB Zornitza Stark gene: FGB was added
gene: FGB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGB were set to Afibrinogenemia, congenital, 202400 (3)
Prepair 1000+ v0.0 FGA Zornitza Stark gene: FGA was added
gene: FGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FGA were set to Afibrinogenemia, congenital, 202400 (3)
Prepair 1000+ v0.0 FERMT3 Zornitza Stark gene: FERMT3 was added
gene: FERMT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, 612840 (3)
Prepair 1000+ v0.0 FERMT1 Zornitza Stark gene: FERMT1 was added
gene: FERMT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FERMT1 were set to Kindler syndrome, 173650 (3)
Prepair 1000+ v0.0 FBXO7 Zornitza Stark gene: FBXO7 was added
gene: FBXO7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)
Prepair 1000+ v0.0 FBXL4 Zornitza Stark gene: FBXL4 was added
gene: FBXL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471 (3)
Prepair 1000+ v0.0 FBP1 Zornitza Stark gene: FBP1 was added
gene: FBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)
Prepair 1000+ v0.0 FBLN5 Zornitza Stark gene: FBLN5 was added
gene: FBLN5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA, 219100 (3)
Prepair 1000+ v0.0 FAT4 Zornitza Stark gene: FAT4 was added
gene: FAT4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Prepair 1000+ v0.0 FARS2 Zornitza Stark gene: FARS2 was added
gene: FARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FARS2 were set to Combined oxidative phosphorylation deficiency 14, 614946 (3)
Prepair 1000+ v0.0 FANCL Zornitza Stark gene: FANCL was added
gene: FANCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)
Prepair 1000+ v0.0 FANCI Zornitza Stark gene: FANCI was added
gene: FANCI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)
Prepair 1000+ v0.0 FANCG Zornitza Stark gene: FANCG was added
gene: FANCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)
Prepair 1000+ v0.0 FANCF Zornitza Stark gene: FANCF was added
gene: FANCF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)
Prepair 1000+ v0.0 FANCE Zornitza Stark gene: FANCE was added
gene: FANCE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)
Prepair 1000+ v0.0 FANCD2 Zornitza Stark gene: FANCD2 was added
gene: FANCD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)
Prepair 1000+ v0.0 FANCC Zornitza Stark gene: FANCC was added
gene: FANCC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)
Prepair 1000+ v0.0 FANCB Zornitza Stark gene: FANCB was added
gene: FANCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)
Prepair 1000+ v0.0 FANCA Zornitza Stark gene: FANCA was added
gene: FANCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)
Prepair 1000+ v0.0 FAM20C Zornitza Stark gene: FAM20C was added
gene: FAM20C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM20C were set to Raine syndrome, 259775 (3)
Prepair 1000+ v0.0 FAM126A Zornitza Stark gene: FAM126A was added
gene: FAM126A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)
Prepair 1000+ v0.0 FAH Zornitza Stark gene: FAH was added
gene: FAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)
Prepair 1000+ v0.0 FA2H Zornitza Stark gene: FA2H was added
gene: FA2H was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FA2H were set to Spastic paraplegia 35, autosomal recessive, 612319 (3)
Prepair 1000+ v0.0 F9 Zornitza Stark gene: F9 was added
gene: F9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F9 were set to Hemophilia B, 306900 (3)
Prepair 1000+ v0.0 F8 Zornitza Stark gene: F8 was added
gene: F8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: F8 were set to Hemophilia A, 306700 (3)
Prepair 1000+ v0.0 F7 Zornitza Stark gene: F7 was added
gene: F7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F7 were set to Factor VII deficiency, 227500 (3)
Prepair 1000+ v0.0 F5 Zornitza Stark gene: F5 was added
gene: F5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F5 were set to Factor V deficiency, 227400 (3)
Prepair 1000+ v0.0 F2 Zornitza Stark gene: F2 was added
gene: F2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: F2 were set to Dysprothrombinemia, 613679 (3)
Prepair 1000+ v0.0 EXTL3 Zornitza Stark gene: EXTL3 was added
gene: EXTL3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3), Autosomal recessive
Prepair 1000+ v0.0 EXOSC8 Zornitza Stark gene: EXOSC8 was added
gene: EXOSC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)
Prepair 1000+ v0.0 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)
Prepair 1000+ v0.0 EVC2 Zornitza Stark gene: EVC2 was added
gene: EVC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 1000+ v0.0 EVC Zornitza Stark gene: EVC was added
gene: EVC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)
Prepair 1000+ v0.0 ETHE1 Zornitza Stark gene: ETHE1 was added
gene: ETHE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)
Prepair 1000+ v0.0 ETFDH Zornitza Stark gene: ETFDH was added
gene: ETFDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)
Prepair 1000+ v0.0 ETFB Zornitza Stark gene: ETFB was added
gene: ETFB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)
Prepair 1000+ v0.0 ETFA Zornitza Stark gene: ETFA was added
gene: ETFA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)
Prepair 1000+ v0.0 ESCO2 Zornitza Stark gene: ESCO2 was added
gene: ESCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)
Prepair 1000+ v0.0 ERCC8 Zornitza Stark gene: ERCC8 was added
gene: ERCC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)
Prepair 1000+ v0.0 ERCC6L2 Zornitza Stark gene: ERCC6L2 was added
gene: ERCC6L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, 615715 (3)
Prepair 1000+ v0.0 ERCC6 Zornitza Stark gene: ERCC6 was added
gene: ERCC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)
Prepair 1000+ v0.0 ERCC5 Zornitza Stark gene: ERCC5 was added
gene: ERCC5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)
Prepair 1000+ v0.0 ERCC4 Zornitza Stark gene: ERCC4 was added
gene: ERCC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)
Prepair 1000+ v0.0 ERCC2 Zornitza Stark gene: ERCC2 was added
gene: ERCC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Prepair 1000+ v0.0 EPM2A Zornitza Stark gene: EPM2A was added
gene: EPM2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora), 254780 (3)
Prepair 1000+ v0.0 EPG5 Zornitza Stark gene: EPG5 was added
gene: EPG5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)
Prepair 1000+ v0.0 EPCAM Zornitza Stark gene: EPCAM was added
gene: EPCAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EPCAM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EPCAM were set to Diarrhea 5, with tufting enteropathy, congenital, 613217 (3)
Prepair 1000+ v0.0 EOGT Zornitza Stark gene: EOGT was added
gene: EOGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EOGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EOGT were set to Adams-Oliver syndrome 4, 615297 (3)
Prepair 1000+ v0.0 ENPP1 Zornitza Stark gene: ENPP1 was added
gene: ENPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)
Prepair 1000+ v0.0 EML1 Zornitza Stark gene: EML1 was added
gene: EML1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EML1 were set to Band heterotopia, 600348 (3), Autosomal recessive
Prepair 1000+ v0.0 EMG1 Zornitza Stark gene: EMG1 was added
gene: EMG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180 (3)
Prepair 1000+ v0.0 EMD Zornitza Stark gene: EMD was added
gene: EMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)
Prepair 1000+ v0.0 ELP2 Zornitza Stark gene: ELP2 was added
gene: ELP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP2 were set to Mental retardation, autosomal recessive 58, 617270 (3)
Prepair 1000+ v0.0 ELP1 Zornitza Stark gene: ELP1 was added
gene: ELP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)
Prepair 1000+ v0.0 ELAC2 Zornitza Stark gene: ELAC2 was added
gene: ELAC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 (3)
Prepair 1000+ v0.0 EIF2S3 Zornitza Stark gene: EIF2S3 was added
gene: EIF2S3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EIF2S3 were set to MEHMO syndrome, 300148 (3), X-linked recessive
Prepair 1000+ v0.0 EIF2B5 Zornitza Stark gene: EIF2B5 was added
gene: EIF2B5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 1000+ v0.0 EIF2B4 Zornitza Stark gene: EIF2B4 was added
gene: EIF2B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)
Prepair 1000+ v0.0 EIF2B3 Zornitza Stark gene: EIF2B3 was added
gene: EIF2B3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 1000+ v0.0 EIF2B2 Zornitza Stark gene: EIF2B2 was added
gene: EIF2B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 1000+ v0.0 EIF2B1 Zornitza Stark gene: EIF2B1 was added
gene: EIF2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)
Prepair 1000+ v0.0 EIF2AK4 Zornitza Stark gene: EIF2AK4 was added
gene: EIF2AK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK4 were set to Pulmonary venoocclusive disease 2, 234810 (3)
Prepair 1000+ v0.0 EIF2AK3 Zornitza Stark gene: EIF2AK3 was added
gene: EIF2AK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)
Prepair 1000+ v0.0 EFNB1 Zornitza Stark gene: EFNB1 was added
gene: EFNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia, 304110 (3)
Prepair 1000+ v0.0 EFEMP2 Zornitza Stark gene: EFEMP2 was added
gene: EFEMP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, 614437 (3)
Prepair 1000+ v0.0 EDAR Zornitza Stark gene: EDAR was added
gene: EDAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EDAR were set to Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3)
Prepair 1000+ v0.0 EDA Zornitza Stark gene: EDA was added
gene: EDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)
Prepair 1000+ v0.0 ECHS1 Zornitza Stark gene: ECHS1 was added
gene: ECHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Prepair 1000+ v0.0 ECEL1 Zornitza Stark gene: ECEL1 was added
gene: ECEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ECEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ECEL1 were set to Arthrogryposis, distal, type 5D, 615065 (3)
Prepair 1000+ v0.0 EARS2 Zornitza Stark gene: EARS2 was added
gene: EARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, 614924 (3)
Prepair 1000+ v0.0 DYSF Zornitza Stark gene: DYSF was added
gene: DYSF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)
Prepair 1000+ v0.0 DYNC2LI1 Zornitza Stark gene: DYNC2LI1 was added
gene: DYNC2LI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3), Autosomal recessive
Prepair 1000+ v0.0 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
Prepair 1000+ v0.0 DYM Zornitza Stark gene: DYM was added
gene: DYM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)
Prepair 1000+ v0.0 DSTYK Zornitza Stark gene: DSTYK was added
gene: DSTYK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750 (3), Autosomal recessive
Prepair 1000+ v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DSP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DSP were set to Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Prepair 1000+ v0.0 DPH1 Zornitza Stark gene: DPH1 was added
gene: DPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 (3), Autosomal recessive
Prepair 1000+ v0.0 DPAGT1 Zornitza Stark gene: DPAGT1 was added
gene: DPAGT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DPAGT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPAGT1 were set to Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
Prepair 1000+ v0.0 DONSON Zornitza Stark gene: DONSON was added
gene: DONSON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DONSON were set to Microcephaly, short stature, and limb abnormalities, 617604 (3), Autosomal recessive
Prepair 1000+ v0.0 DOLK Zornitza Stark gene: DOLK was added
gene: DOLK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, 610768 (3)
Prepair 1000+ v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)
Prepair 1000+ v0.0 DOCK8 Zornitza Stark gene: DOCK8 was added
gene: DOCK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
Prepair 1000+ v0.0 DOCK6 Zornitza Stark gene: DOCK6 was added
gene: DOCK6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)
Prepair 1000+ v0.0 DOCK2 Zornitza Stark gene: DOCK2 was added
gene: DOCK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK2 were set to Immunodeficiency 40, 616433 (3)
Prepair 1000+ v0.0 DNMT3B Zornitza Stark gene: DNMT3B was added
gene: DNMT3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)
Prepair 1000+ v0.0 DNAJC6 Zornitza Stark gene: DNAJC6 was added
gene: DNAJC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19, juvenile-onset, 615528 (3)
Prepair 1000+ v0.0 DNAJC21 Zornitza Stark gene: DNAJC21 was added
gene: DNAJC21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, 617052 (3), Autosomal recessive
Prepair 1000+ v0.0 DNAJC19 Zornitza Stark gene: DNAJC19 was added
gene: DNAJC19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V, 610198 (3)
Prepair 1000+ v0.0 DNAJC12 Zornitza Stark gene: DNAJC12 was added
gene: DNAJC12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3), Autosomal recessive
Prepair 1000+ v0.0 DNAI2 Zornitza Stark gene: DNAI2 was added
gene: DNAI2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)
Prepair 1000+ v0.0 DNAI1 Zornitza Stark gene: DNAI1 was added
gene: DNAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
Prepair 1000+ v0.0 DNAH5 Zornitza Stark gene: DNAH5 was added
gene: DNAH5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
Prepair 1000+ v0.0 DNAH11 Zornitza Stark gene: DNAH11 was added
gene: DNAH11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
Prepair 1000+ v0.0 DNAAF5 Zornitza Stark gene: DNAAF5 was added
gene: DNAAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF5 were set to Ciliary dyskinesia, primary, 18, 614874 (3)
Prepair 1000+ v0.0 DNAAF4 Zornitza Stark gene: DNAAF4 was added
gene: DNAAF4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF4 were set to Ciliary dyskinesia, primary, 25, 615482 (3)
Prepair 1000+ v0.0 DNAAF3 Zornitza Stark gene: DNAAF3 was added
gene: DNAAF3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF3 were set to Ciliary dyskinesia, primary, 2, 606763 (3)
Prepair 1000+ v0.0 DNAAF1 Zornitza Stark gene: DNAAF1 was added
gene: DNAAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DNAAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAAF1 were set to Ciliary dyskinesia, primary, 13, 613193 (3)
Prepair 1000+ v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)
Prepair 1000+ v0.0 DLL3 Zornitza Stark gene: DLL3 was added
gene: DLL3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
Prepair 1000+ v0.0 DLG3 Zornitza Stark gene: DLG3 was added
gene: DLG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)
Prepair 1000+ v0.0 DLD Zornitza Stark gene: DLD was added
gene: DLD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
Prepair 1000+ v0.0 DKC1 Zornitza Stark gene: DKC1 was added
gene: DKC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)
Prepair 1000+ v0.0 DIS3L2 Zornitza Stark gene: DIS3L2 was added
gene: DIS3L2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)
Prepair 1000+ v0.0 DHODH Zornitza Stark gene: DHODH was added
gene: DHODH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHODH were set to Miller syndrome, 263750 (3)
Prepair 1000+ v0.0 DHDDS Zornitza Stark gene: DHDDS was added
gene: DHDDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)
Prepair 1000+ v0.0 DHCR7 Zornitza Stark gene: DHCR7 was added
gene: DHCR7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)
Prepair 1000+ v0.0 DHCR24 Zornitza Stark gene: DHCR24 was added
gene: DHCR24 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)
Prepair 1000+ v0.0 DGUOK Zornitza Stark gene: DGUOK was added
gene: DGUOK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)
Prepair 1000+ v0.0 DGKE Zornitza Stark gene: DGKE was added
gene: DGKE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7, 615008 (3)
Prepair 1000+ v0.0 DGAT1 Zornitza Stark gene: DGAT1 was added
gene: DGAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type
Prepair 1000+ v0.0 DENND5A Zornitza Stark gene: DENND5A was added
gene: DENND5A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DENND5A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DENND5A were set to Epileptic encephalopathy, early infantile, 49, 617281 (3), Autosomal recessive
Prepair 1000+ v0.0 DDX59 Zornitza Stark gene: DDX59 was added
gene: DDX59 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300 (3)
Prepair 1000+ v0.0 DDX11 Zornitza Stark gene: DDX11 was added
gene: DDX11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)
Prepair 1000+ v0.0 DDR2 Zornitza Stark gene: DDR2 was added
gene: DDR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDR2 were set to Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Prepair 1000+ v0.0 DDHD2 Zornitza Stark gene: DDHD2 was added
gene: DDHD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive, 615033 (3)
Prepair 1000+ v0.0 DDC Zornitza Stark gene: DDC was added
gene: DDC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
Prepair 1000+ v0.0 DCX Zornitza Stark gene: DCX was added
gene: DCX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)
Prepair 1000+ v0.0 DCLRE1C Zornitza Stark gene: DCLRE1C was added
gene: DCLRE1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)
Prepair 1000+ v0.0 DCHS1 Zornitza Stark gene: DCHS1 was added
gene: DCHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 (3)
Prepair 1000+ v0.0 DCDC2 Zornitza Stark gene: DCDC2 was added
gene: DCDC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCDC2 were set to Nephronophthisis 19, 616217 (3)
Prepair 1000+ v0.0 DCAF17 Zornitza Stark gene: DCAF17 was added
gene: DCAF17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)
Prepair 1000+ v0.0 DBT Zornitza Stark gene: DBT was added
gene: DBT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)
Prepair 1000+ v0.0 DARS2 Zornitza Stark gene: DARS2 was added
gene: DARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS2 were set to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
Prepair 1000+ v0.0 DARS Zornitza Stark gene: DARS was added
gene: DARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DARS were set to Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3)
Prepair 1000+ v0.0 D2HGDH Zornitza Stark gene: D2HGDH was added
gene: D2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)
Prepair 1000+ v0.0 CYP7B1 Zornitza Stark gene: CYP7B1 was added
gene: CYP7B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)
Prepair 1000+ v0.0 CYP4F22 Zornitza Stark gene: CYP4F22 was added
gene: CYP4F22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 (3)
Prepair 1000+ v0.0 CYP2U1 Zornitza Stark gene: CYP2U1 was added
gene: CYP2U1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP2U1 were set to Spastic paraplegia 56, autosomal recessive, 615030 (3)
Prepair 1000+ v0.0 CYP27A1 Zornitza Stark gene: CYP27A1 was added
gene: CYP27A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)
Prepair 1000+ v0.0 CYP1B1 Zornitza Stark gene: CYP1B1 was added
gene: CYP1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)
Prepair 1000+ v0.0 CYP17A1 Zornitza Stark gene: CYP17A1 was added
gene: CYP17A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)
Prepair 1000+ v0.0 CYP11B2 Zornitza Stark gene: CYP11B2 was added
gene: CYP11B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Prepair 1000+ v0.0 CYP11A1 Zornitza Stark gene: CYP11A1 was added
gene: CYP11A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)
Prepair 1000+ v0.0 CYBB Zornitza Stark gene: CYBB was added
gene: CYBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)
Prepair 1000+ v0.0 CYBA Zornitza Stark gene: CYBA was added
gene: CYBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
Prepair 1000+ v0.0 CYB5R3 Zornitza Stark gene: CYB5R3 was added
gene: CYB5R3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CYB5R3 were set to Methemoglobinemia, type I, 250800 (3)
Prepair 1000+ v0.0 CWC27 Zornitza Stark gene: CWC27 was added
gene: CWC27 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410 (3), Autosomal recessive
Prepair 1000+ v0.0 CUL7 Zornitza Stark gene: CUL7 was added
gene: CUL7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CUL7 were set to 3-M syndrome 1, 273750 (3)
Prepair 1000+ v0.0 CUL4B Zornitza Stark gene: CUL4B was added
gene: CUL4B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)
Prepair 1000+ v0.0 CTSK Zornitza Stark gene: CTSK was added
gene: CTSK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)
Prepair 1000+ v0.0 CTSF Zornitza Stark gene: CTSF was added
gene: CTSF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
Prepair 1000+ v0.0 CTSD Zornitza Stark gene: CTSD was added
gene: CTSD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
Prepair 1000+ v0.0 CTSC Zornitza Stark gene: CTSC was added
gene: CTSC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)
Prepair 1000+ v0.0 CTSA Zornitza Stark gene: CTSA was added
gene: CTSA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)
Prepair 1000+ v0.0 CTPS1 Zornitza Stark gene: CTPS1 was added
gene: CTPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTPS1 were set to Immunodeficiency 24, 615897 (3)
Prepair 1000+ v0.0 CTNS Zornitza Stark gene: CTNS was added
gene: CTNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)
Prepair 1000+ v0.0 CTC1 Zornitza Stark gene: CTC1 was added
gene: CTC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
Prepair 1000+ v0.0 CSTB Zornitza Stark gene: CSTB was added
gene: CSTB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3)
Prepair 1000+ v0.0 CSPP1 Zornitza Stark gene: CSPP1 was added
gene: CSPP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)
Prepair 1000+ v0.0 CRTAP Zornitza Stark gene: CRTAP was added
gene: CRTAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)
Prepair 1000+ v0.0 CRLF1 Zornitza Stark gene: CRLF1 was added
gene: CRLF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRLF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRLF1 were set to Cold-induced sweating syndrome 1, 272430 (3)
Prepair 1000+ v0.0 CRB2 Zornitza Stark gene: CRB2 was added
gene: CRB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, 219730 (3)
Prepair 1000+ v0.0 CRB1 Zornitza Stark gene: CRB1 was added
gene: CRB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)
Prepair 1000+ v0.0 CPT2 Zornitza Stark gene: CPT2 was added
gene: CPT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)
Prepair 1000+ v0.0 CPT1A Zornitza Stark gene: CPT1A was added
gene: CPT1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)
Prepair 1000+ v0.0 CPS1 Zornitza Stark gene: CPS1 was added
gene: CPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)
Prepair 1000+ v0.0 COX20 Zornitza Stark gene: COX20 was added
gene: COX20 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 COX15 Zornitza Stark gene: COX15 was added
gene: COX15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Prepair 1000+ v0.0 COX10 Zornitza Stark gene: COX10 was added
gene: COX10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COX10 were set to Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)
Prepair 1000+ v0.0 COQ8B Zornitza Stark gene: COQ8B was added
gene: COQ8B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573 (3)
Prepair 1000+ v0.0 COQ8A Zornitza Stark gene: COQ8A was added
gene: COQ8A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016 (3)
Prepair 1000+ v0.0 COQ6 Zornitza Stark gene: COQ6 was added
gene: COQ6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650 (3)
Prepair 1000+ v0.0 COQ4 Zornitza Stark gene: COQ4 was added
gene: COQ4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276 (3)
Prepair 1000+ v0.0 COQ2 Zornitza Stark gene: COQ2 was added
gene: COQ2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426 (3)
Prepair 1000+ v0.0 COLQ Zornitza Stark gene: COLQ was added
gene: COLQ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)
Prepair 1000+ v0.0 COLEC11 Zornitza Stark gene: COLEC11 was added
gene: COLEC11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)
Prepair 1000+ v0.0 COL7A1 Zornitza Stark gene: COL7A1 was added
gene: COL7A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)
Prepair 1000+ v0.0 COL6A3 Zornitza Stark gene: COL6A3 was added
gene: COL6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Prepair 1000+ v0.0 COL6A2 Zornitza Stark gene: COL6A2 was added
gene: COL6A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Prepair 1000+ v0.0 COL6A1 Zornitza Stark gene: COL6A1 was added
gene: COL6A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)
Prepair 1000+ v0.0 COL4A5 Zornitza Stark gene: COL4A5 was added
gene: COL4A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked
Prepair 1000+ v0.0 COL4A4 Zornitza Stark gene: COL4A4 was added
gene: COL4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 1000+ v0.0 COL4A3 Zornitza Stark gene: COL4A3 was added
gene: COL4A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)
Prepair 1000+ v0.0 COL27A1 Zornitza Stark gene: COL27A1 was added
gene: COL27A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL27A1 were set to Steel Syndrome
Prepair 1000+ v0.0 COL18A1 Zornitza Stark gene: COL18A1 was added
gene: COL18A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)
Prepair 1000+ v0.0 COL17A1 Zornitza Stark gene: COL17A1 was added
gene: COL17A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Prepair 1000+ v0.0 COL11A2 Zornitza Stark gene: COL11A2 was added
gene: COL11A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)
Prepair 1000+ v0.0 COL11A1 Zornitza Stark gene: COL11A1 was added
gene: COL11A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COL11A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL11A1 were set to Fibrochondrogenesis 1, 228520 (3)
Prepair 1000+ v0.0 COG7 Zornitza Stark gene: COG7 was added
gene: COG7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)
Prepair 1000+ v0.0 COG6 Zornitza Stark gene: COG6 was added
gene: COG6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576 (3)
Prepair 1000+ v0.0 CNTNAP2 Zornitza Stark gene: CNTNAP2 was added
gene: CNTNAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Prepair 1000+ v0.0 CNTNAP1 Zornitza Stark gene: CNTNAP1 was added
gene: CNTNAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)
Prepair 1000+ v0.0 CNNM4 Zornitza Stark gene: CNNM4 was added
gene: CNNM4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNNM4 were set to Jalili syndrome, 217080 (3)
Prepair 1000+ v0.0 CNGB3 Zornitza Stark gene: CNGB3 was added
gene: CNGB3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)
Prepair 1000+ v0.0 CNGA3 Zornitza Stark gene: CNGA3 was added
gene: CNGA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)
Prepair 1000+ v0.0 CLRN1 Zornitza Stark gene: CLRN1 was added
gene: CLRN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)
Prepair 1000+ v0.0 CLPP Zornitza Stark gene: CLPP was added
gene: CLPP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 (3)
Prepair 1000+ v0.0 CLPB Zornitza Stark gene: CLPB was added
gene: CLPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
Prepair 1000+ v0.0 CLP1 Zornitza Stark gene: CLP1 was added
gene: CLP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)
Prepair 1000+ v0.0 CLN8 Zornitza Stark gene: CLN8 was added
gene: CLN8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)
Prepair 1000+ v0.0 CLN6 Zornitza Stark gene: CLN6 was added
gene: CLN6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)
Prepair 1000+ v0.0 CLN5 Zornitza Stark gene: CLN5 was added
gene: CLN5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)
Prepair 1000+ v0.0 CLN3 Zornitza Stark gene: CLN3 was added
gene: CLN3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)
Prepair 1000+ v0.0 CLMP Zornitza Stark gene: CLMP was added
gene: CLMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLMP were set to Congenital short bowel syndrome, 615237 (3)
Prepair 1000+ v0.0 CLDN19 Zornitza Stark gene: CLDN19 was added
gene: CLDN19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)
Prepair 1000+ v0.0 CLDN10 Zornitza Stark gene: CLDN10 was added
gene: CLDN10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive
Prepair 1000+ v0.0 CLDN1 Zornitza Stark gene: CLDN1 was added
gene: CLDN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
Prepair 1000+ v0.0 CLCNKB Zornitza Stark gene: CLCNKB was added
gene: CLCNKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)
Prepair 1000+ v0.0 CLCN7 Zornitza Stark gene: CLCN7 was added
gene: CLCN7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)
Prepair 1000+ v0.0 CLCN5 Zornitza Stark gene: CLCN5 was added
gene: CLCN5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)
Prepair 1000+ v0.0 CLCN4 Zornitza Stark gene: CLCN4 was added
gene: CLCN4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: CLCN4 were set to 27550844
Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, MIM #300114
Prepair 1000+ v0.0 CLCN2 Zornitza Stark gene: CLCN2 was added
gene: CLCN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3)
Prepair 1000+ v0.0 CLCF1 Zornitza Stark gene: CLCF1 was added
gene: CLCF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, 610313 (3)
Prepair 1000+ v0.0 CKAP2L Zornitza Stark gene: CKAP2L was added
gene: CKAP2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)
Prepair 1000+ v0.0 CIT Zornitza Stark gene: CIT was added
gene: CIT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)
Prepair 1000+ v0.0 CISD2 Zornitza Stark gene: CISD2 was added
gene: CISD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928 (3)
Prepair 1000+ v0.0 CIITA Zornitza Stark gene: CIITA was added
gene: CIITA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)
Prepair 1000+ v0.0 CHSY1 Zornitza Stark gene: CHSY1 was added
gene: CHSY1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282 (3)
Prepair 1000+ v0.0 CHST3 Zornitza Stark gene: CHST3 was added
gene: CHST3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
Prepair 1000+ v0.0 CHST14 Zornitza Stark gene: CHST14 was added
gene: CHST14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)
Prepair 1000+ v0.0 CHRNG Zornitza Stark gene: CHRNG was added
gene: CHRNG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)
Prepair 1000+ v0.0 CHRNE Zornitza Stark gene: CHRNE was added
gene: CHRNE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)
Prepair 1000+ v0.0 CHRND Zornitza Stark gene: CHRND was added
gene: CHRND was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)
Prepair 1000+ v0.0 CHRNA1 Zornitza Stark gene: CHRNA1 was added
gene: CHRNA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290 (3)
Prepair 1000+ v0.0 CHM Zornitza Stark gene: CHM was added
gene: CHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CHM were set to Choroideremia
Prepair 1000+ v0.0 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541 (3)
Prepair 1000+ v0.0 CHAT Zornitza Stark gene: CHAT was added
gene: CHAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
Prepair 1000+ v0.0 CFTR Zornitza Stark gene: CFTR was added
gene: CFTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)
Prepair 1000+ v0.0 CFP Zornitza Stark gene: CFP was added
gene: CFP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)
Prepair 1000+ v0.0 CFL2 Zornitza Stark gene: CFL2 was added
gene: CFL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3)
Prepair 1000+ v0.0 CFI Zornitza Stark gene: CFI was added
gene: CFI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)
Prepair 1000+ v0.0 CFH Zornitza Stark gene: CFH was added
gene: CFH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)
Prepair 1000+ v0.0 CFD Zornitza Stark gene: CFD was added
gene: CFD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)
Prepair 1000+ v0.0 CERS3 Zornitza Stark gene: CERS3 was added
gene: CERS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
Prepair 1000+ v0.0 CEP78 Zornitza Stark gene: CEP78 was added
gene: CEP78 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive
Prepair 1000+ v0.0 CEP41 Zornitza Stark gene: CEP41 was added
gene: CEP41 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)
Prepair 1000+ v0.0 CEP290 Zornitza Stark gene: CEP290 was added
gene: CEP290 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)
Prepair 1000+ v0.0 CEP152 Zornitza Stark gene: CEP152 was added
gene: CEP152 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)
Prepair 1000+ v0.0 CEP120 Zornitza Stark gene: CEP120 was added
gene: CEP120 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
Prepair 1000+ v0.0 CENPJ Zornitza Stark gene: CENPJ was added
gene: CENPJ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)
Prepair 1000+ v0.0 CDT1 Zornitza Stark gene: CDT1 was added
gene: CDT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)
Prepair 1000+ v0.0 CDK5RAP2 Zornitza Stark gene: CDK5RAP2 was added
gene: CDK5RAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)
Prepair 1000+ v0.0 CDK10 Zornitza Stark gene: CDK10 was added
gene: CDK10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive
Prepair 1000+ v0.0 CDH3 Zornitza Stark gene: CDH3 was added
gene: CDH3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
Prepair 1000+ v0.0 CDH23 Zornitza Stark gene: CDH23 was added
gene: CDH23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)
Prepair 1000+ v0.0 CDH11 Zornitza Stark gene: CDH11 was added
gene: CDH11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive
Prepair 1000+ v0.0 CDC45 Zornitza Stark gene: CDC45 was added
gene: CDC45 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive
Prepair 1000+ v0.0 CD55 Zornitza Stark gene: CD55 was added
gene: CD55 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive
Prepair 1000+ v0.0 CD40LG Zornitza Stark gene: CD40LG was added
gene: CD40LG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)
Prepair 1000+ v0.0 CD40 Zornitza Stark gene: CD40 was added
gene: CD40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)
Prepair 1000+ v0.0 CD3D Zornitza Stark gene: CD3D was added
gene: CD3D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)
Prepair 1000+ v0.0 CD27 Zornitza Stark gene: CD27 was added
gene: CD27 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)
Prepair 1000+ v0.0 CCNO Zornitza Stark gene: CCNO was added
gene: CCNO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)
Prepair 1000+ v0.0 CCDC88C Zornitza Stark gene: CCDC88C was added
gene: CCDC88C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
Prepair 1000+ v0.0 CCDC8 Zornitza Stark gene: CCDC8 was added
gene: CCDC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)
Prepair 1000+ v0.0 CCDC40 Zornitza Stark gene: CCDC40 was added
gene: CCDC40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)
Prepair 1000+ v0.0 CCDC39 Zornitza Stark gene: CCDC39 was added
gene: CCDC39 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)
Prepair 1000+ v0.0 CCDC115 Zornitza Stark gene: CCDC115 was added
gene: CCDC115 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive
Prepair 1000+ v0.0 CCDC114 Zornitza Stark gene: CCDC114 was added
gene: CCDC114 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)
Prepair 1000+ v0.0 CCDC103 Zornitza Stark gene: CCDC103 was added
gene: CCDC103 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)
Prepair 1000+ v0.0 CCBE1 Zornitza Stark gene: CCBE1 was added
gene: CCBE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)
Prepair 1000+ v0.0 CC2D2A Zornitza Stark gene: CC2D2A was added
gene: CC2D2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)
Prepair 1000+ v0.0 CC2D1A Zornitza Stark gene: CC2D1A was added
gene: CC2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)
Prepair 1000+ v0.0 CAVIN1 Zornitza Stark gene: CAVIN1 was added
gene: CAVIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)
Prepair 1000+ v0.0 CASR Zornitza Stark gene: CASR was added
gene: CASR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)
Prepair 1000+ v0.0 CASQ2 Zornitza Stark gene: CASQ2 was added
gene: CASQ2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
Prepair 1000+ v0.0 CASK Zornitza Stark gene: CASK was added
gene: CASK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CASK were set to Mental retardation, with or without nystagmus
Prepair 1000+ v0.0 CARS2 Zornitza Stark gene: CARS2 was added
gene: CARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive
Prepair 1000+ v0.0 CARD9 Zornitza Stark gene: CARD9 was added
gene: CARD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)
Prepair 1000+ v0.0 CARD11 Zornitza Stark gene: CARD11 was added
gene: CARD11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)
Prepair 1000+ v0.0 CAPN3 Zornitza Stark gene: CAPN3 was added
gene: CAPN3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)
Prepair 1000+ v0.0 CANT1 Zornitza Stark gene: CANT1 was added
gene: CANT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)
Prepair 1000+ v0.0 CABP4 Zornitza Stark gene: CABP4 was added
gene: CABP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)
Prepair 1000+ v0.0 CA2 Zornitza Stark gene: CA2 was added
gene: CA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
Prepair 1000+ v0.0 C8orf37 Zornitza Stark gene: C8orf37 was added
gene: C8orf37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)
Prepair 1000+ v0.0 C8B Zornitza Stark gene: C8B was added
gene: C8B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)
Prepair 1000+ v0.0 C7 Zornitza Stark gene: C7 was added
gene: C7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C7 were set to C7 deficiency, 610102 (3)
Prepair 1000+ v0.0 C6 Zornitza Stark gene: C6 was added
gene: C6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C6 were set to C6 deficiency, 612446 (3)
Prepair 1000+ v0.0 C5orf42 Zornitza Stark gene: C5orf42 was added
gene: C5orf42 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)
Prepair 1000+ v0.0 C5 Zornitza Stark gene: C5 was added
gene: C5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C5 were set to C5 deficiency, 609536 (3)
Prepair 1000+ v0.0 C3 Zornitza Stark gene: C3 was added
gene: C3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C3 were set to C3 deficiency, 613779 (3)
Prepair 1000+ v0.0 C2CD3 Zornitza Stark gene: C2CD3 was added
gene: C2CD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV
Prepair 1000+ v0.0 C21orf2 Zornitza Stark gene: C21orf2 was added
gene: C21orf2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive
Prepair 1000+ v0.0 C1QC Zornitza Stark gene: C1QC was added
gene: C1QC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)
Prepair 1000+ v0.0 C1QB Zornitza Stark gene: C1QB was added
gene: C1QB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)
Prepair 1000+ v0.0 C1QA Zornitza Stark gene: C1QA was added
gene: C1QA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)
Prepair 1000+ v0.0 C19orf12 Zornitza Stark gene: C19orf12 was added
gene: C19orf12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)
Prepair 1000+ v0.0 C12orf65 Zornitza Stark gene: C12orf65 was added
gene: C12orf65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)
Prepair 1000+ v0.0 C12orf57 Zornitza Stark gene: C12orf57 was added
gene: C12orf57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)
Prepair 1000+ v0.0 BUB1B Zornitza Stark gene: BUB1B was added
gene: BUB1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)
Prepair 1000+ v0.0 BTK Zornitza Stark gene: BTK was added
gene: BTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)
Prepair 1000+ v0.0 BSND Zornitza Stark gene: BSND was added
gene: BSND was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)
Prepair 1000+ v0.0 BSCL2 Zornitza Stark gene: BSCL2 was added
gene: BSCL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Prepair 1000+ v0.0 BRWD3 Zornitza Stark gene: BRWD3 was added
gene: BRWD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)
Prepair 1000+ v0.0 BRF1 Zornitza Stark gene: BRF1 was added
gene: BRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)
Prepair 1000+ v0.0 BRAT1 Zornitza Stark gene: BRAT1 was added
gene: BRAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
Prepair 1000+ v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)
Prepair 1000+ v0.0 BMPR1B Zornitza Stark gene: BMPR1B was added
gene: BMPR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive
Prepair 1000+ v0.0 BMPER Zornitza Stark gene: BMPER was added
gene: BMPER was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)
Prepair 1000+ v0.0 BLM Zornitza Stark gene: BLM was added
gene: BLM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)
Prepair 1000+ v0.0 BIN1 Zornitza Stark gene: BIN1 was added
gene: BIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)
Prepair 1000+ v0.0 BGN Zornitza Stark gene: BGN was added
gene: BGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked
Prepair 1000+ v0.0 BCS1L Zornitza Stark gene: BCS1L was added
gene: BCS1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)
Prepair 1000+ v0.0 BCKDK Zornitza Stark gene: BCKDK was added
gene: BCKDK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)
Prepair 1000+ v0.0 BCKDHB Zornitza Stark gene: BCKDHB was added
gene: BCKDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)
Prepair 1000+ v0.0 BCKDHA Zornitza Stark gene: BCKDHA was added
gene: BCKDHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)
Prepair 1000+ v0.0 BBS9 Zornitza Stark gene: BBS9 was added
gene: BBS9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)
Prepair 1000+ v0.0 BBS7 Zornitza Stark gene: BBS7 was added
gene: BBS7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)
Prepair 1000+ v0.0 BBS5 Zornitza Stark gene: BBS5 was added
gene: BBS5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)
Prepair 1000+ v0.0 BBS4 Zornitza Stark gene: BBS4 was added
gene: BBS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)
Prepair 1000+ v0.0 BBS2 Zornitza Stark gene: BBS2 was added
gene: BBS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)
Prepair 1000+ v0.0 BBS12 Zornitza Stark gene: BBS12 was added
gene: BBS12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)
Prepair 1000+ v0.0 BBS10 Zornitza Stark gene: BBS10 was added
gene: BBS10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)
Prepair 1000+ v0.0 BBS1 Zornitza Stark gene: BBS1 was added
gene: BBS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)
Prepair 1000+ v0.0 B4GALT7 Zornitza Stark gene: B4GALT7 was added
gene: B4GALT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)
Prepair 1000+ v0.0 B4GALNT1 Zornitza Stark gene: B4GALNT1 was added
gene: B4GALNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)
Prepair 1000+ v0.0 B3GLCT Zornitza Stark gene: B3GLCT was added
gene: B3GLCT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)
Prepair 1000+ v0.0 B3GAT3 Zornitza Stark gene: B3GAT3 was added
gene: B3GAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)
Prepair 1000+ v0.0 B3GALT6 Zornitza Stark gene: B3GALT6 was added
gene: B3GALT6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)
Prepair 1000+ v0.0 B3GALNT2 Zornitza Stark gene: B3GALNT2 was added
gene: B3GALNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
Prepair 1000+ v0.0 AUH Zornitza Stark gene: AUH was added
gene: AUH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)
Prepair 1000+ v0.0 ATRX Zornitza Stark gene: ATRX was added
gene: ATRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)
Prepair 1000+ v0.0 ATR Zornitza Stark gene: ATR was added
gene: ATR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)
Prepair 1000+ v0.0 ATP8B1 Zornitza Stark gene: ATP8B1 was added
gene: ATP8B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)
Prepair 1000+ v0.0 ATP8A2 Zornitza Stark gene: ATP8A2 was added
gene: ATP8A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4
Prepair 1000+ v0.0 ATP7B Zornitza Stark gene: ATP7B was added
gene: ATP7B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)
Prepair 1000+ v0.0 ATP7A Zornitza Stark gene: ATP7A was added
gene: ATP7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)
Prepair 1000+ v0.0 ATP6V1B1 Zornitza Stark gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)
Prepair 1000+ v0.0 ATP6V0A4 Zornitza Stark gene: ATP6V0A4 was added
gene: ATP6V0A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
Prepair 1000+ v0.0 ATP6V0A2 Zornitza Stark gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Prepair 1000+ v0.0 ATP6AP1 Zornitza Stark gene: ATP6AP1 was added
gene: ATP6AP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP6AP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ATP6AP1 were set to Immunodeficiency 47, 300972 (3), X-linked recessive
Prepair 1000+ v0.0 ATP13A2 Zornitza Stark gene: ATP13A2 was added
gene: ATP13A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Spastic paraplegia 78, autosomal recessive, 617225 (3)
Prepair 1000+ v0.0 ATOH7 Zornitza Stark gene: ATOH7 was added
gene: ATOH7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATOH7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATOH7 were set to Persistent hyperplastic primary vitreous, autosomal recessive, 221900 (3)
Prepair 1000+ v0.0 ATM Zornitza Stark gene: ATM was added
gene: ATM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia, 208900 (3)
Prepair 1000+ v0.0 ATF6 Zornitza Stark gene: ATF6 was added
gene: ATF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATF6 were set to Achromatopsia 7, 616517 (3), Autosomal recessive
Prepair 1000+ v0.0 ATCAY Zornitza Stark gene: ATCAY was added
gene: ATCAY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type, 601238 (3)
Prepair 1000+ v0.0 ATAD1 Zornitza Stark gene: ATAD1 was added
gene: ATAD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011 (3), Autosomal recessive
Prepair 1000+ v0.0 ASS1 Zornitza Stark gene: ASS1 was added
gene: ASS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASS1 were set to Citrullinemia, 215700 (3)
Prepair 1000+ v0.0 ASPM Zornitza Stark gene: ASPM was added
gene: ASPM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive, 608716 (3)
Prepair 1000+ v0.0 ASPA Zornitza Stark gene: ASPA was added
gene: ASPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASPA were set to Canavan disease, 271900 (3)
Prepair 1000+ v0.0 ASNS Zornitza Stark gene: ASNS was added
gene: ASNS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, 615574 (3)
Prepair 1000+ v0.0 ASL Zornitza Stark gene: ASL was added
gene: ASL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASL were set to Argininosuccinic aciduria, 207900 (3)
Prepair 1000+ v0.0 ASCC1 Zornitza Stark gene: ASCC1 was added
gene: ASCC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASCC1 were set to Spinal muscular atrophy with congenital bone fractures 2, MIM#616867
Prepair 1000+ v0.0 ASAH1 Zornitza Stark gene: ASAH1 was added
gene: ASAH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ASAH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ASAH1 were set to Farber lipogranulomatosis, 228000 (3)
Prepair 1000+ v0.0 ARX Zornitza Stark gene: ARX was added
gene: ARX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARX were set to Hydranencephaly with abnormal genitalia, 300215 (3)
Prepair 1000+ v0.0 ARV1 Zornitza Stark gene: ARV1 was added
gene: ARV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARV1 were set to Epileptic encephalopathy, early infantile, 38, 617020 (3), Autosomal recessive
Prepair 1000+ v0.0 ARSB Zornitza Stark gene: ARSB was added
gene: ARSB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSB were set to Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
Prepair 1000+ v0.0 ARSA Zornitza Stark gene: ARSA was added
gene: ARSA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy, 250100 (3)
Prepair 1000+ v0.0 ARPC1B Zornitza Stark gene: ARPC1B was added
gene: ARPC1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARPC1B were set to Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3), Autosomal recessive
Prepair 1000+ v0.0 ARMC4 Zornitza Stark gene: ARMC4 was added
gene: ARMC4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARMC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARMC4 were set to Ciliary dyskinesia, primary, 23, 615451 (3)
Prepair 1000+ v0.0 ARL6 Zornitza Stark gene: ARL6 was added
gene: ARL6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL6 were set to Bardet-Biedl syndrome 3, 600151 (3)
Prepair 1000+ v0.0 ARL13B Zornitza Stark gene: ARL13B was added
gene: ARL13B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARL13B were set to Joubert syndrome 8, 612291 (3)
Prepair 1000+ v0.0 ARHGEF9 Zornitza Stark gene: ARHGEF9 was added
gene: ARHGEF9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARHGEF9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ARHGEF9 were set to Epileptic encephalopathy, early infantile, 8, 300607 (3)
Prepair 1000+ v0.0 ARG1 Zornitza Stark gene: ARG1 was added
gene: ARG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARG1 were set to Argininemia, 207800 (3)
Prepair 1000+ v0.0 ARFGEF2 Zornitza Stark gene: ARFGEF2 was added
gene: ARFGEF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ARFGEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARFGEF2 were set to Periventricular heterotopia with microcephaly, 608097 (3)
Prepair 1000+ v0.0 AQP2 Zornitza Stark gene: AQP2 was added
gene: AQP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AQP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AQP2 were set to Diabetes insipidus, nephrogenic, 125800 (3)
Prepair 1000+ v0.0 APTX Zornitza Stark gene: APTX was added
gene: APTX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920 (3)
Prepair 1000+ v0.0 APOPT1 Zornitza Stark gene: APOPT1 was added
gene: APOPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 AP4S1 Zornitza Stark gene: AP4S1 was added
gene: AP4S1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)
Prepair 1000+ v0.0 AP4M1 Zornitza Stark gene: AP4M1 was added
gene: AP4M1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)
Prepair 1000+ v0.0 AP4B1 Zornitza Stark gene: AP4B1 was added
gene: AP4B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)
Prepair 1000+ v0.0 AP3B2 Zornitza Stark gene: AP3B2 was added
gene: AP3B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive
Prepair 1000+ v0.0 AP1S2 Zornitza Stark gene: AP1S2 was added
gene: AP1S2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)
Prepair 1000+ v0.0 ANTXR2 Zornitza Stark gene: ANTXR2 was added
gene: ANTXR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)
Prepair 1000+ v0.0 ANTXR1 Zornitza Stark gene: ANTXR1 was added
gene: ANTXR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)
Prepair 1000+ v0.0 ANKS6 Zornitza Stark gene: ANKS6 was added
gene: ANKS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)
Prepair 1000+ v0.0 AMT Zornitza Stark gene: AMT was added
gene: AMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)
Prepair 1000+ v0.0 AMPD2 Zornitza Stark gene: AMPD2 was added
gene: AMPD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)
Prepair 1000+ v0.0 ALS2 Zornitza Stark gene: ALS2 was added
gene: ALS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)
Prepair 1000+ v0.0 ALPL Zornitza Stark gene: ALPL was added
gene: ALPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)
Prepair 1000+ v0.0 ALOXE3 Zornitza Stark gene: ALOXE3 was added
gene: ALOXE3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)
Prepair 1000+ v0.0 ALOX12B Zornitza Stark gene: ALOX12B was added
gene: ALOX12B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)
Prepair 1000+ v0.0 ALMS1 Zornitza Stark gene: ALMS1 was added
gene: ALMS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)
Prepair 1000+ v0.0 ALG9 Zornitza Stark gene: ALG9 was added
gene: ALG9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)
Prepair 1000+ v0.0 ALG8 Zornitza Stark gene: ALG8 was added
gene: ALG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)
Prepair 1000+ v0.0 ALG6 Zornitza Stark gene: ALG6 was added
gene: ALG6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)
Prepair 1000+ v0.0 ALG3 Zornitza Stark gene: ALG3 was added
gene: ALG3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)
Prepair 1000+ v0.0 ALG2 Zornitza Stark gene: ALG2 was added
gene: ALG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)
Prepair 1000+ v0.0 ALG12 Zornitza Stark gene: ALG12 was added
gene: ALG12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)
Prepair 1000+ v0.0 ALG11 Zornitza Stark gene: ALG11 was added
gene: ALG11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)
Prepair 1000+ v0.0 ALG1 Zornitza Stark gene: ALG1 was added
gene: ALG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)
Prepair 1000+ v0.0 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)
Prepair 1000+ v0.0 ALDH7A1 Zornitza Stark gene: ALDH7A1 was added
gene: ALDH7A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)
Prepair 1000+ v0.0 ALDH5A1 Zornitza Stark gene: ALDH5A1 was added
gene: ALDH5A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
Prepair 1000+ v0.0 ALDH3A2 Zornitza Stark gene: ALDH3A2 was added
gene: ALDH3A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)
Prepair 1000+ v0.0 ALDH1A3 Zornitza Stark gene: ALDH1A3 was added
gene: ALDH1A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)
Prepair 1000+ v0.0 ALDH18A1 Zornitza Stark gene: ALDH18A1 was added
gene: ALDH18A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)
Prepair 1000+ v0.0 ALAD Zornitza Stark gene: ALAD was added
gene: ALAD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)
Prepair 1000+ v0.0 AKR1D1 Zornitza Stark gene: AKR1D1 was added
gene: AKR1D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)
Prepair 1000+ v0.0 AK2 Zornitza Stark gene: AK2 was added
gene: AK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)
Prepair 1000+ v0.0 AIPL1 Zornitza Stark gene: AIPL1 was added
gene: AIPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)
Prepair 1000+ v0.0 AIMP1 Zornitza Stark gene: AIMP1 was added
gene: AIMP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)
Prepair 1000+ v0.0 AIFM1 Zornitza Stark gene: AIFM1 was added
gene: AIFM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)
Prepair 1000+ v0.0 AHI1 Zornitza Stark gene: AHI1 was added
gene: AHI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)
Prepair 1000+ v0.0 AGXT Zornitza Stark gene: AGXT was added
gene: AGXT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)
Prepair 1000+ v0.0 AGT Zornitza Stark gene: AGT was added
gene: AGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)
Prepair 1000+ v0.0 AGRN Zornitza Stark gene: AGRN was added
gene: AGRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
Prepair 1000+ v0.0 AGPS Zornitza Stark gene: AGPS was added
gene: AGPS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)
Prepair 1000+ v0.0 AGL Zornitza Stark gene: AGL was added
gene: AGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)
Prepair 1000+ v0.0 AGK Zornitza Stark gene: AGK was added
gene: AGK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)
Prepair 1000+ v0.0 AGBL5 Zornitza Stark gene: AGBL5 was added
gene: AGBL5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive
Prepair 1000+ v0.0 AGA Zornitza Stark gene: AGA was added
gene: AGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)
Prepair 1000+ v0.0 ADSL Zornitza Stark gene: ADSL was added
gene: ADSL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)
Prepair 1000+ v0.0 ADGRV1 Zornitza Stark gene: ADGRV1 was added
gene: ADGRV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)
Prepair 1000+ v0.0 ADGRG1 Zornitza Stark gene: ADGRG1 was added
gene: ADGRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)
Prepair 1000+ v0.0 ADAT3 Zornitza Stark gene: ADAT3 was added
gene: ADAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)
Prepair 1000+ v0.0 ADAR Zornitza Stark gene: ADAR was added
gene: ADAR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)
Prepair 1000+ v0.0 ADAMTSL2 Zornitza Stark gene: ADAMTSL2 was added
gene: ADAMTSL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)
Prepair 1000+ v0.0 ADAMTS2 Zornitza Stark gene: ADAMTS2 was added
gene: ADAMTS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)
Prepair 1000+ v0.0 ADAMTS13 Zornitza Stark gene: ADAMTS13 was added
gene: ADAMTS13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)
Prepair 1000+ v0.0 ADA2 Zornitza Stark gene: ADA2 was added
gene: ADA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)
Prepair 1000+ v0.0 ADA Zornitza Stark gene: ADA was added
gene: ADA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)
Prepair 1000+ v0.0 ACTA1 Zornitza Stark gene: ACTA1 was added
gene: ACTA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)
Prepair 1000+ v0.0 ACOX1 Zornitza Stark gene: ACOX1 was added
gene: ACOX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)
Prepair 1000+ v0.0 ACO2 Zornitza Stark gene: ACO2 was added
gene: ACO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)
Prepair 1000+ v0.0 ACE Zornitza Stark gene: ACE was added
gene: ACE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)
Prepair 1000+ v0.0 ACAT1 Zornitza Stark gene: ACAT1 was added
gene: ACAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)
Prepair 1000+ v0.0 ACADVL Zornitza Stark gene: ACADVL was added
gene: ACADVL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)
Prepair 1000+ v0.0 ACADM Zornitza Stark gene: ACADM was added
gene: ACADM was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM #201450
Prepair 1000+ v0.0 ACAD9 Zornitza Stark gene: ACAD9 was added
gene: ACAD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)
Prepair 1000+ v0.0 ABHD5 Zornitza Stark gene: ABHD5 was added
gene: ABHD5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)
Prepair 1000+ v0.0 ABCD1 Zornitza Stark gene: ABCD1 was added
gene: ABCD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)
Prepair 1000+ v0.0 ABCC8 Zornitza Stark gene: ABCC8 was added
gene: ABCC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Prepair 1000+ v0.0 ABCB7 Zornitza Stark gene: ABCB7 was added
gene: ABCB7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)
Prepair 1000+ v0.0 ABCB4 Zornitza Stark gene: ABCB4 was added
gene: ABCB4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)
Prepair 1000+ v0.0 ABCB11 Zornitza Stark gene: ABCB11 was added
gene: ABCB11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)
Prepair 1000+ v0.0 ABCA3 Zornitza Stark gene: ABCA3 was added
gene: ABCA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
Prepair 1000+ v0.0 ABCA12 Zornitza Stark gene: ABCA12 was added
gene: ABCA12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)
Prepair 1000+ v0.0 ABAT Zornitza Stark gene: ABAT was added
gene: ABAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)
Prepair 1000+ v0.0 AARS2 Zornitza Stark gene: AARS2 was added
gene: AARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)
Prepair 1000+ v0.0 AAAS Zornitza Stark gene: AAAS was added
gene: AAAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
Prepair 1000+ v0.0 Zornitza Stark Added panel Reproductive Carrier Screen_VCGS