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Prepair 1000+ v0.0 SLC9A3 Zornitza Stark gene: SLC9A3 was added
gene: SLC9A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC9A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC9A3 were set to Diarrhea 8, secretory sodium, congenital, 616868 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC7A7 Zornitza Stark gene: SLC7A7 was added
gene: SLC7A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)
Prepair 1000+ v0.0 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)
Prepair 1000+ v0.0 SLC6A5 Zornitza Stark gene: SLC6A5 was added
gene: SLC6A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)
Prepair 1000+ v0.0 SLC6A3 Zornitza Stark gene: SLC6A3 was added
gene: SLC6A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135 (3)
Prepair 1000+ v0.0 SLC5A7 Zornitza Stark gene: SLC5A7 was added
gene: SLC5A7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC52A3 Zornitza Stark gene: SLC52A3 was added
gene: SLC52A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)
Prepair 1000+ v0.0 SLC52A2 Zornitza Stark gene: SLC52A2 was added
gene: SLC52A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)
Prepair 1000+ v0.0 SLC4A4 Zornitza Stark gene: SLC4A4 was added
gene: SLC4A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
Prepair 1000+ v0.0 SLC4A1 Zornitza Stark gene: SLC4A1 was added
gene: SLC4A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC4A1 were set to Renal tubular acidosis, distal, AR, 611590 (3)
Prepair 1000+ v0.0 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)
Prepair 1000+ v0.0 SLC45A2 Zornitza Stark gene: SLC45A2 was added
gene: SLC45A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)
Prepair 1000+ v0.0 SLC39A8 Zornitza Stark gene: SLC39A8 was added
gene: SLC39A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A8 were set to Congenital disorder of glycosylation, type IIn, 616721 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)
Prepair 1000+ v0.0 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC38A8 Zornitza Stark gene: SLC38A8 was added
gene: SLC38A8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)
Prepair 1000+ v0.0 SLC37A4 Zornitza Stark gene: SLC37A4 was added
gene: SLC37A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)
Prepair 1000+ v0.0 SLC35D1 Zornitza Stark gene: SLC35D1 was added
gene: SLC35D1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35D1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC35D1 were set to Schneckenbecken dysplasia, 269250 (3)
Prepair 1000+ v0.0 SLC35A3 Zornitza Stark gene: SLC35A3 was added
gene: SLC35A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 24031089; 28777481; 28328131
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)
Prepair 1000+ v0.0 SLC33A1 Zornitza Stark gene: SLC33A1 was added
gene: SLC33A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC33A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC33A1 were set to Congenital cataracts, hearing loss, and neurodegeneration, 614482 (3)
Prepair 1000+ v0.0 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280 (3)
Prepair 1000+ v0.0 SLC2A2 Zornitza Stark gene: SLC2A2 was added
gene: SLC2A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, 227810 (3)
Prepair 1000+ v0.0 SLC2A10 Zornitza Stark gene: SLC2A10 was added
gene: SLC2A10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, 208050 (3)
Prepair 1000+ v0.0 SLC29A3 Zornitza Stark gene: SLC29A3 was added
gene: SLC29A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
Prepair 1000+ v0.0 SLC26A3 Zornitza Stark gene: SLC26A3 was added
gene: SLC26A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)
Prepair 1000+ v0.0 SLC26A2 Zornitza Stark gene: SLC26A2 was added
gene: SLC26A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)
Prepair 1000+ v0.0 SLC25A46 Zornitza Stark gene: SLC25A46 was added
gene: SLC25A46 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB, 616505 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC25A38 Zornitza Stark gene: SLC25A38 was added
gene: SLC25A38 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A38 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950 (3)
Prepair 1000+ v0.0 SLC25A22 Zornitza Stark gene: SLC25A22 was added
gene: SLC25A22 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A22 were set to Epileptic encephalopathy, early infantile, 3, 609304 (3)
Prepair 1000+ v0.0 SLC25A19 Zornitza Stark gene: SLC25A19 was added
gene: SLC25A19 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (progressive polyneuropathy type), 613710
Prepair 1000+ v0.0 SLC25A15 Zornitza Stark gene: SLC25A15 was added
gene: SLC25A15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)
Prepair 1000+ v0.0 SLC25A13 Zornitza Stark gene: SLC25A13 was added
gene: SLC25A13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)
Prepair 1000+ v0.0 SLC25A1 Zornitza Stark gene: SLC25A1 was added
gene: SLC25A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)
Prepair 1000+ v0.0 SLC24A5 Zornitza Stark gene: SLC24A5 was added
gene: SLC24A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC24A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC24A5 were set to Albinism, oculocutaneous, type VI, 113750 (3)
Prepair 1000+ v0.0 SLC22A5 Zornitza Stark gene: SLC22A5 was added
gene: SLC22A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)
Prepair 1000+ v0.0 SLC1A4 Zornitza Stark gene: SLC1A4 was added
gene: SLC1A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)
Prepair 1000+ v0.0 SLC19A3 Zornitza Stark gene: SLC19A3 was added
gene: SLC19A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)
Prepair 1000+ v0.0 SLC19A2 Zornitza Stark gene: SLC19A2 was added
gene: SLC19A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)
Prepair 1000+ v0.0 SLC17A5 Zornitza Stark gene: SLC17A5 was added
gene: SLC17A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)
Prepair 1000+ v0.0 SLC16A2 Zornitza Stark gene: SLC16A2 was added
gene: SLC16A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome
Prepair 1000+ v0.0 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC16A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, 616095 (3)
Prepair 1000+ v0.0 SLC13A5 Zornitza Stark gene: SLC13A5 was added
gene: SLC13A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC13A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC13A5 were set to Epileptic encephalopathy, early infantile, 25, 615905 (3)
Prepair 1000+ v0.0 SLC12A6 Zornitza Stark gene: SLC12A6 was added
gene: SLC12A6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
Prepair 1000+ v0.0 SLC12A5 Zornitza Stark gene: SLC12A5 was added
gene: SLC12A5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A5 were set to Epileptic encephalopathy, early infantile, 34, 616645 (3), Autosomal recessive
Prepair 1000+ v0.0 SLC12A1 Zornitza Stark gene: SLC12A1 was added
gene: SLC12A1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)
Prepair 1000+ v0.0 SKIV2L Zornitza Stark gene: SKIV2L was added
gene: SKIV2L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)
Prepair 1000+ v0.0 SIL1 Zornitza Stark gene: SIL1 was added
gene: SIL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIL1 were set to Marinesco-Sjogren syndrome, 248800 (3)
Prepair 1000+ v0.0 SHOX Zornitza Stark gene: SHOX was added
gene: SHOX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SHOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SHOX were set to Langer mesomelic dysplasia, 249700 (3)
Prepair 1000+ v0.0 SH3TC2 Zornitza Stark gene: SH3TC2 was added
gene: SH3TC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)
Prepair 1000+ v0.0 SH3PXD2B Zornitza Stark gene: SH3PXD2B was added
gene: SH3PXD2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH3PXD2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SH3PXD2B were set to Frank-ter Haar syndrome, 249420 (3)
Prepair 1000+ v0.0 SH2D1A Zornitza Stark gene: SH2D1A was added
gene: SH2D1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SH2D1A were set to Lymphoproliferative syndrome, X-linked, 1, 308240 (3)
Prepair 1000+ v0.0 SGSH Zornitza Stark gene: SGSH was added
gene: SGSH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)
Prepair 1000+ v0.0 SGPL1 Zornitza Stark gene: SGPL1 was added
gene: SGPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14, 617575 (3), Autosomal recessive
Prepair 1000+ v0.0 SGO1 Zornitza Stark gene: SGO1 was added
gene: SGO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGO1 were set to Chronic atrial and intestinal dysrhythmia, 616201 (3)
Prepair 1000+ v0.0 SGCG Zornitza Stark gene: SGCG was added
gene: SGCG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)
Prepair 1000+ v0.0 SGCD Zornitza Stark gene: SGCD was added
gene: SGCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)
Prepair 1000+ v0.0 SGCB Zornitza Stark gene: SGCB was added
gene: SGCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)
Prepair 1000+ v0.0 SGCA Zornitza Stark gene: SGCA was added
gene: SGCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)
Prepair 1000+ v0.0 SFTPB Zornitza Stark gene: SFTPB was added
gene: SFTPB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SFTPB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SFTPB were set to Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
Prepair 1000+ v0.0 SETX Zornitza Stark gene: SETX was added
gene: SETX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SETX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SETX were set to Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
Prepair 1000+ v0.0 SERPINH1 Zornitza Stark gene: SERPINH1 was added
gene: SERPINH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)
Prepair 1000+ v0.0 SERPINF1 Zornitza Stark gene: SERPINF1 was added
gene: SERPINF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, 613982 (3)
Prepair 1000+ v0.0 SERPINA1 Zornitza Stark gene: SERPINA1 was added
gene: SERPINA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERPINA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERPINA1 were set to Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
Prepair 1000+ v0.0 SERAC1 Zornitza Stark gene: SERAC1 was added
gene: SERAC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)
Prepair 1000+ v0.0 SEPSECS Zornitza Stark gene: SEPSECS was added
gene: SEPSECS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)
Prepair 1000+ v0.0 SEMA4A Zornitza Stark gene: SEMA4A was added
gene: SEMA4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEMA4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEMA4A were set to Cone-rod dystrophy 10, 610283 (3)
Prepair 1000+ v0.0 SELENON Zornitza Stark gene: SELENON was added
gene: SELENON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)
Prepair 1000+ v0.0 SEC23B Zornitza Stark gene: SEC23B was added
gene: SEC23B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)
Prepair 1000+ v0.0 SEC23A Zornitza Stark gene: SEC23A was added
gene: SEC23A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SEC23A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEC23A were set to Craniolenticulosutural dysplasia, 607812 (3)
Prepair 1000+ v0.0 SDHAF1 Zornitza Stark gene: SDHAF1 was added
gene: SDHAF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDHAF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDHAF1 were set to Mitochondrial complex II deficiency, 252011 (3)
Prepair 1000+ v0.0 SDCCAG8 Zornitza Stark gene: SDCCAG8 was added
gene: SDCCAG8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)
Prepair 1000+ v0.0 SCYL1 Zornitza Stark gene: SCYL1 was added
gene: SCYL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719 (3)
Prepair 1000+ v0.0 SCO2 Zornitza Stark gene: SCO2 was added
gene: SCO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)
Prepair 1000+ v0.0 SCNN1B Zornitza Stark gene: SCNN1B was added
gene: SCNN1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, 264350 (3)
Prepair 1000+ v0.0 SCNN1A Zornitza Stark gene: SCNN1A was added
gene: SCNN1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCNN1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, 264350 (3)
Prepair 1000+ v0.0 SCN9A Zornitza Stark gene: SCN9A was added
gene: SCN9A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCN9A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Insensitivity to pain, congenital, 243000 (3)
Prepair 1000+ v0.0 SCARF2 Zornitza Stark gene: SCARF2 was added
gene: SCARF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARF2 were set to Van den Ende-Gupta syndrome, 600920 (3)
Prepair 1000+ v0.0 SCARB2 Zornitza Stark gene: SCARB2 was added
gene: SCARB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3)
Prepair 1000+ v0.0 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)
Prepair 1000+ v0.0 SBF2 Zornitza Stark gene: SBF2 was added
gene: SBF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBF2 were set to Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
Prepair 1000+ v0.0 SBDS Zornitza Stark gene: SBDS was added
gene: SBDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SBDS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, 260400 (3)
Prepair 1000+ v0.0 SARS2 Zornitza Stark gene: SARS2 was added
gene: SARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SARS2 were set to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
Prepair 1000+ v0.0 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, 246700 (3)
Prepair 1000+ v0.0 SAMHD1 Zornitza Stark gene: SAMHD1 was added
gene: SAMHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)
Prepair 1000+ v0.0 SAMD9 Zornitza Stark gene: SAMD9 was added
gene: SAMD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SAMD9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAMD9 were set to Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
Prepair 1000+ v0.0 SACS Zornitza Stark gene: SACS was added
gene: SACS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
Prepair 1000+ v0.0 RYR1 Zornitza Stark gene: RYR1 was added
gene: RYR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RYR1 were set to Minicore myopathy with external ophthalmoplegia, 255320 (3)
Prepair 1000+ v0.0 RTTN Zornitza Stark gene: RTTN was added
gene: RTTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)
Prepair 1000+ v0.0 RTN4IP1 Zornitza Stark gene: RTN4IP1 was added
gene: RTN4IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive
Prepair 1000+ v0.0 RTEL1 Zornitza Stark gene: RTEL1 was added
gene: RTEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)
Prepair 1000+ v0.0 RSPH9 Zornitza Stark gene: RSPH9 was added
gene: RSPH9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)
Prepair 1000+ v0.0 RSPH4A Zornitza Stark gene: RSPH4A was added
gene: RSPH4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)
Prepair 1000+ v0.0 RSPH1 Zornitza Stark gene: RSPH1 was added
gene: RSPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)
Prepair 1000+ v0.0 RRM2B Zornitza Stark gene: RRM2B was added
gene: RRM2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Prepair 1000+ v0.0 RPS6KA3 Zornitza Stark gene: RPS6KA3 was added
gene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome
Prepair 1000+ v0.0 RPGRIP1L Zornitza Stark gene: RPGRIP1L was added
gene: RPGRIP1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)
Prepair 1000+ v0.0 RPGRIP1 Zornitza Stark gene: RPGRIP1 was added
gene: RPGRIP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)
Prepair 1000+ v0.0 RPGR Zornitza Stark gene: RPGR was added
gene: RPGR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)
Prepair 1000+ v0.0 RPE65 Zornitza Stark gene: RPE65 was added
gene: RPE65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)
Prepair 1000+ v0.0 RP2 Zornitza Stark gene: RP2 was added
gene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)
Prepair 1000+ v0.0 RORC Zornitza Stark gene: RORC was added
gene: RORC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive
Prepair 1000+ v0.0 ROR2 Zornitza Stark gene: ROR2 was added
gene: ROR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)
Prepair 1000+ v0.0 ROGDI Zornitza Stark gene: ROGDI was added
gene: ROGDI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)
Prepair 1000+ v0.0 ROBO3 Zornitza Stark gene: ROBO3 was added
gene: ROBO3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)
Prepair 1000+ v0.0 RNU4ATAC Zornitza Stark gene: RNU4ATAC was added
gene: RNU4ATAC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)
Prepair 1000+ v0.0 RNASET2 Zornitza Stark gene: RNASET2 was added
gene: RNASET2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)
Prepair 1000+ v0.0 RNASEH2C Zornitza Stark gene: RNASEH2C was added
gene: RNASEH2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)
Prepair 1000+ v0.0 RNASEH2B Zornitza Stark gene: RNASEH2B was added
gene: RNASEH2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)
Prepair 1000+ v0.0 RNASEH2A Zornitza Stark gene: RNASEH2A was added
gene: RNASEH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)
Prepair 1000+ v0.0 RMRP Zornitza Stark gene: RMRP was added
gene: RMRP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)
Prepair 1000+ v0.0 RMND1 Zornitza Stark gene: RMND1 was added
gene: RMND1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)
Prepair 1000+ v0.0 RLIM Zornitza Stark gene: RLIM was added
gene: RLIM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive
Prepair 1000+ v0.0 RIPK4 Zornitza Stark gene: RIPK4 was added
gene: RIPK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)
Prepair 1000+ v0.0 RIN2 Zornitza Stark gene: RIN2 was added
gene: RIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
Prepair 1000+ v0.0 RFXAP Zornitza Stark gene: RFXAP was added
gene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)
Prepair 1000+ v0.0 RFXANK Zornitza Stark gene: RFXANK was added
gene: RFXANK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)
Prepair 1000+ v0.0 RFX6 Zornitza Stark gene: RFX6 was added
gene: RFX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)
Prepair 1000+ v0.0 RFT1 Zornitza Stark gene: RFT1 was added
gene: RFT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)
Prepair 1000+ v0.0 RETREG1 Zornitza Stark gene: RETREG1 was added
gene: RETREG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)
Prepair 1000+ v0.0 REN Zornitza Stark gene: REN was added
gene: REN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)
Prepair 1000+ v0.0 REEP6 Zornitza Stark gene: REEP6 was added
gene: REEP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive
Prepair 1000+ v0.0 RECQL4 Zornitza Stark gene: RECQL4 was added
gene: RECQL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)
Prepair 1000+ v0.0 RDH12 Zornitza Stark gene: RDH12 was added
gene: RDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)
Prepair 1000+ v0.0 RD3 Zornitza Stark gene: RD3 was added
gene: RD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)
Prepair 1000+ v0.0 RCBTB1 Zornitza Stark gene: RCBTB1 was added
gene: RCBTB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive
Prepair 1000+ v0.0 RBM10 Zornitza Stark gene: RBM10 was added
gene: RBM10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)
Prepair 1000+ v0.0 RBCK1 Zornitza Stark gene: RBCK1 was added
gene: RBCK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Prepair 1000+ v0.0 RBBP8 Zornitza Stark gene: RBBP8 was added
gene: RBBP8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)
Prepair 1000+ v0.0 RAX Zornitza Stark gene: RAX was added
gene: RAX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)
Prepair 1000+ v0.0 RARS2 Zornitza Stark gene: RARS2 was added
gene: RARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)
Prepair 1000+ v0.0 RARS Zornitza Stark gene: RARS was added
gene: RARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)
Prepair 1000+ v0.0 RARB Zornitza Stark gene: RARB was added
gene: RARB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive
Prepair 1000+ v0.0 RAPSN Zornitza Stark gene: RAPSN was added
gene: RAPSN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)
Prepair 1000+ v0.0 RAG2 Zornitza Stark gene: RAG2 was added
gene: RAG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 1000+ v0.0 RAG1 Zornitza Stark gene: RAG1 was added
gene: RAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)
Prepair 1000+ v0.0 RAD50 Zornitza Stark gene: RAD50 was added
gene: RAD50 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)
Prepair 1000+ v0.0 RAB3GAP2 Zornitza Stark gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)
Prepair 1000+ v0.0 RAB3GAP1 Zornitza Stark gene: RAB3GAP1 was added
gene: RAB3GAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)
Prepair 1000+ v0.0 RAB39B Zornitza Stark gene: RAB39B was added
gene: RAB39B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)
Prepair 1000+ v0.0 RAB33B Zornitza Stark gene: RAB33B was added
gene: RAB33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)
Prepair 1000+ v0.0 RAB27A Zornitza Stark gene: RAB27A was added
gene: RAB27A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)
Prepair 1000+ v0.0 RAB23 Zornitza Stark gene: RAB23 was added
gene: RAB23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)
Prepair 1000+ v0.0 RAB18 Zornitza Stark gene: RAB18 was added
gene: RAB18 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)
Prepair 1000+ v0.0 QDPR Zornitza Stark gene: QDPR was added
gene: QDPR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
Prepair 1000+ v0.0 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)
Prepair 1000+ v0.0 PYROXD1 Zornitza Stark gene: PYROXD1 was added
gene: PYROXD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive
Prepair 1000+ v0.0 PYCR2 Zornitza Stark gene: PYCR2 was added
gene: PYCR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)
Prepair 1000+ v0.0 PYCR1 Zornitza Stark gene: PYCR1 was added
gene: PYCR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)
Prepair 1000+ v0.0 PXDN Zornitza Stark gene: PXDN was added
gene: PXDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)
Prepair 1000+ v0.0 PUS1 Zornitza Stark gene: PUS1 was added
gene: PUS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)
Prepair 1000+ v0.0 PTS Zornitza Stark gene: PTS was added
gene: PTS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)
Prepair 1000+ v0.0 PTH1R Zornitza Stark gene: PTH1R was added
gene: PTH1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)
Prepair 1000+ v0.0 PSPH Zornitza Stark gene: PSPH was added
gene: PSPH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)
Prepair 1000+ v0.0 PSMB8 Zornitza Stark gene: PSMB8 was added
gene: PSMB8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)
Prepair 1000+ v0.0 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)
Prepair 1000+ v0.0 PSAP Zornitza Stark gene: PSAP was added
gene: PSAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)
Prepair 1000+ v0.0 PRX Zornitza Stark gene: PRX was added
gene: PRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)
Prepair 1000+ v0.0 PRUNE1 Zornitza Stark gene: PRUNE1 was added
gene: PRUNE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive
Prepair 1000+ v0.0 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)
Prepair 1000+ v0.0 PROS1 Zornitza Stark gene: PROS1 was added
gene: PROS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Prepair 1000+ v0.0 PROP1 Zornitza Stark gene: PROP1 was added
gene: PROP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)
Prepair 1000+ v0.0 PROC Zornitza Stark gene: PROC was added
gene: PROC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Prepair 1000+ v0.0 PRKRA Zornitza Stark gene: PRKRA was added
gene: PRKRA was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 25142429; 29279192
Phenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067
Prepair 1000+ v0.0 PRICKLE1 Zornitza Stark gene: PRICKLE1 was added
gene: PRICKLE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)
Prepair 1000+ v0.0 PRG4 Zornitza Stark gene: PRG4 was added
gene: PRG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
Prepair 1000+ v0.0 PRF1 Zornitza Stark gene: PRF1 was added
gene: PRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Prepair 1000+ v0.0 PRDM5 Zornitza Stark gene: PRDM5 was added
gene: PRDM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)
Prepair 1000+ v0.0 PRDM12 Zornitza Stark gene: PRDM12 was added
gene: PRDM12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive
Prepair 1000+ v0.0 PQBP1 Zornitza Stark gene: PQBP1 was added
gene: PQBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)
Prepair 1000+ v0.0 PPT1 Zornitza Stark gene: PPT1 was added
gene: PPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
Prepair 1000+ v0.0 PPIB Zornitza Stark gene: PPIB was added
gene: PPIB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440
Prepair 1000+ v0.0 PPA2 Zornitza Stark gene: PPA2 was added
gene: PPA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive
Prepair 1000+ v0.0 POU1F1 Zornitza Stark gene: POU1F1 was added
gene: POU1F1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)
Prepair 1000+ v0.0 POR Zornitza Stark gene: POR was added
gene: POR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Prepair 1000+ v0.0 POP1 Zornitza Stark gene: POP1 was added
gene: POP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive
Prepair 1000+ v0.0 POMT2 Zornitza Stark gene: POMT2 was added
gene: POMT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Prepair 1000+ v0.0 POMT1 Zornitza Stark gene: POMT1 was added
gene: POMT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Prepair 1000+ v0.0 POMP Zornitza Stark gene: POMP was added
gene: POMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)
Prepair 1000+ v0.0 POMK Zornitza Stark gene: POMK was added
gene: POMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)
Prepair 1000+ v0.0 POMGNT2 Zornitza Stark gene: POMGNT2 was added
gene: POMGNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)
Prepair 1000+ v0.0 POMGNT1 Zornitza Stark gene: POMGNT1 was added
gene: POMGNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Prepair 1000+ v0.0 POMC Zornitza Stark gene: POMC was added
gene: POMC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)
Prepair 1000+ v0.0 POLR3B Zornitza Stark gene: POLR3B was added
gene: POLR3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
Prepair 1000+ v0.0 POLR3A Zornitza Stark gene: POLR3A was added
gene: POLR3A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)
Prepair 1000+ v0.0 POLR1C Zornitza Stark gene: POLR1C was added
gene: POLR1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)
Prepair 1000+ v0.0 POLG Zornitza Stark gene: POLG was added
gene: POLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)
Prepair 1000+ v0.0 POC1A Zornitza Stark gene: POC1A was added
gene: POC1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)
Prepair 1000+ v0.0 PNPO Zornitza Stark gene: PNPO was added
gene: PNPO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
Prepair 1000+ v0.0 PNPLA6 Zornitza Stark gene: PNPLA6 was added
gene: PNPLA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)
Prepair 1000+ v0.0 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
Prepair 1000+ v0.0 PNKP Zornitza Stark gene: PNKP was added
gene: PNKP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)
Prepair 1000+ v0.0 PMPCA Zornitza Stark gene: PMPCA was added
gene: PMPCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
Prepair 1000+ v0.0 PMM2 Zornitza Stark gene: PMM2 was added
gene: PMM2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)
Prepair 1000+ v0.0 PLPBP Zornitza Stark gene: PLPBP was added
gene: PLPBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive
Prepair 1000+ v0.0 PLP1 Zornitza Stark gene: PLP1 was added
gene: PLP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)
Prepair 1000+ v0.0 PLOD2 Zornitza Stark gene: PLOD2 was added
gene: PLOD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)
Prepair 1000+ v0.0 PLOD1 Zornitza Stark gene: PLOD1 was added
gene: PLOD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)
Prepair 1000+ v0.0 PLG Zornitza Stark gene: PLG was added
gene: PLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)
Prepair 1000+ v0.0 PLEC Zornitza Stark gene: PLEC was added
gene: PLEC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)
Prepair 1000+ v0.0 PLCE1 Zornitza Stark gene: PLCE1 was added
gene: PLCE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)
Prepair 1000+ v0.0 PLAA Zornitza Stark gene: PLAA was added
gene: PLAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive
Prepair 1000+ v0.0 PLA2G6 Zornitza Stark gene: PLA2G6 was added
gene: PLA2G6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)
Prepair 1000+ v0.0 PKLR Zornitza Stark gene: PKLR was added
gene: PKLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)
Prepair 1000+ v0.0 PKHD1 Zornitza Stark gene: PKHD1 was added
gene: PKHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)
Prepair 1000+ v0.0 PIH1D3 Zornitza Stark gene: PIH1D3 was added
gene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive
Prepair 1000+ v0.0 PIGV Zornitza Stark gene: PIGV was added
gene: PIGV was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)
Prepair 1000+ v0.0 PIGT Zornitza Stark gene: PIGT was added
gene: PIGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3
Prepair 1000+ v0.0 PIGO Zornitza Stark gene: PIGO was added
gene: PIGO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
Prepair 1000+ v0.0 PIGN Zornitza Stark gene: PIGN was added
gene: PIGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
Prepair 1000+ v0.0 PIGL Zornitza Stark gene: PIGL was added
gene: PIGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)
Prepair 1000+ v0.0 PIGG Zornitza Stark gene: PIGG was added
gene: PIGG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)
Prepair 1000+ v0.0 PIGA Zornitza Stark gene: PIGA was added
gene: PIGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)
Prepair 1000+ v0.0 PIEZO2 Zornitza Stark gene: PIEZO2 was added
gene: PIEZO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive
Prepair 1000+ v0.0 PHYH Zornitza Stark gene: PHYH was added
gene: PHYH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHYH were set to Refsum disease, 266500 (3)
Prepair 1000+ v0.0 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)
Prepair 1000+ v0.0 PHF8 Zornitza Stark gene: PHF8 was added
gene: PHF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)
Prepair 1000+ v0.0 PHF6 Zornitza Stark gene: PHF6 was added
gene: PHF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)
Prepair 1000+ v0.0 PGM3 Zornitza Stark gene: PGM3 was added
gene: PGM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)
Prepair 1000+ v0.0 PGM1 Zornitza Stark gene: PGM1 was added
gene: PGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)
Prepair 1000+ v0.0 PGK1 Zornitza Stark gene: PGK1 was added
gene: PGK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)
Prepair 1000+ v0.0 PGAP3 Zornitza Stark gene: PGAP3 was added
gene: PGAP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)
Prepair 1000+ v0.0 PGAP2 Zornitza Stark gene: PGAP2 was added
gene: PGAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)
Prepair 1000+ v0.0 PGAP1 Zornitza Stark gene: PGAP1 was added
gene: PGAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive
Prepair 1000+ v0.0 PFKM Zornitza Stark gene: PFKM was added
gene: PFKM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)
Prepair 1000+ v0.0 PEX7 Zornitza Stark gene: PEX7 was added
gene: PEX7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)
Prepair 1000+ v0.0 PEX6 Zornitza Stark gene: PEX6 was added
gene: PEX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862
Prepair 1000+ v0.0 PEX5 Zornitza Stark gene: PEX5 was added
gene: PEX5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110
Prepair 1000+ v0.0 PEX3 Zornitza Stark gene: PEX3 was added
gene: PEX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882
Prepair 1000+ v0.0 PEX26 Zornitza Stark gene: PEX26 was added
gene: PEX26 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872
Prepair 1000+ v0.0 PEX2 Zornitza Stark gene: PEX2 was added
gene: PEX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866
Prepair 1000+ v0.0 PEX16 Zornitza Stark gene: PEX16 was added
gene: PEX16 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876
Prepair 1000+ v0.0 PEX13 Zornitza Stark gene: PEX13 was added
gene: PEX13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883
Prepair 1000+ v0.0 PEX12 Zornitza Stark gene: PEX12 was added
gene: PEX12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859
Prepair 1000+ v0.0 PEX11B Zornitza Stark gene: PEX11B was added
gene: PEX11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)
Prepair 1000+ v0.0 PEX10 Zornitza Stark gene: PEX10 was added
gene: PEX10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870
Prepair 1000+ v0.0 PEX1 Zornitza Stark gene: PEX1 was added
gene: PEX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100
Prepair 1000+ v0.0 PET100 Zornitza Stark gene: PET100 was added
gene: PET100 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)
Prepair 1000+ v0.0 PEPD Zornitza Stark gene: PEPD was added
gene: PEPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)
Prepair 1000+ v0.0 PDP1 Zornitza Stark gene: PDP1 was added
gene: PDP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)
Prepair 1000+ v0.0 PDHB Zornitza Stark gene: PDHB was added
gene: PDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)
Prepair 1000+ v0.0 PDHA1 Zornitza Stark gene: PDHA1 was added
gene: PDHA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency
Prepair 1000+ v0.0 PDE6C Zornitza Stark gene: PDE6C was added
gene: PDE6C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)
Prepair 1000+ v0.0 PCYT1A Zornitza Stark gene: PCYT1A was added
gene: PCYT1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)
Prepair 1000+ v0.0 PCSK1 Zornitza Stark gene: PCSK1 was added
gene: PCSK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)
Prepair 1000+ v0.0 PCNT Zornitza Stark gene: PCNT was added
gene: PCNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)
Prepair 1000+ v0.0 PCDH15 Zornitza Stark gene: PCDH15 was added
gene: PCDH15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)
Prepair 1000+ v0.0 PCDH12 Zornitza Stark gene: PCDH12 was added
gene: PCDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive
Prepair 1000+ v0.0 PCCB Zornitza Stark gene: PCCB was added
gene: PCCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)
Prepair 1000+ v0.0 PCCA Zornitza Stark gene: PCCA was added
gene: PCCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)
Prepair 1000+ v0.0 PC Zornitza Stark gene: PC was added
gene: PC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)
Prepair 1000+ v0.0 PAPSS2 Zornitza Stark gene: PAPSS2 was added
gene: PAPSS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)
Prepair 1000+ v0.0 PANK2 Zornitza Stark gene: PANK2 was added
gene: PANK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)
Prepair 1000+ v0.0 PAK3 Zornitza Stark gene: PAK3 was added
gene: PAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)
Prepair 1000+ v0.0 PAH Zornitza Stark gene: PAH was added
gene: PAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)
Prepair 1000+ v0.0 P3H1 Zornitza Stark gene: P3H1 was added
gene: P3H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)
Prepair 1000+ v0.0 OTUD6B Zornitza Stark gene: OTUD6B was added
gene: OTUD6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive
Prepair 1000+ v0.0 OTC Zornitza Stark gene: OTC was added
gene: OTC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)
Prepair 1000+ v0.0 OSTM1 Zornitza Stark gene: OSTM1 was added
gene: OSTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)
Prepair 1000+ v0.0 OSGEP Zornitza Stark gene: OSGEP was added
gene: OSGEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive
Prepair 1000+ v0.0 ORC6 Zornitza Stark gene: ORC6 was added
gene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)
Prepair 1000+ v0.0 ORC1 Zornitza Stark gene: ORC1 was added
gene: ORC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)
Prepair 1000+ v0.0 ORAI1 Zornitza Stark gene: ORAI1 was added
gene: ORAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)
Prepair 1000+ v0.0 OPHN1 Zornitza Stark gene: OPHN1 was added
gene: OPHN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)
Prepair 1000+ v0.0 OPA3 Zornitza Stark gene: OPA3 was added
gene: OPA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)
Prepair 1000+ v0.0 OPA1 Zornitza Stark gene: OPA1 was added
gene: OPA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive
Prepair 1000+ v0.0 OFD1 Zornitza Stark gene: OFD1 was added
gene: OFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)
Prepair 1000+ v0.0 OCRL Zornitza Stark gene: OCRL was added
gene: OCRL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)
Prepair 1000+ v0.0 OCLN Zornitza Stark gene: OCLN was added
gene: OCLN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)
Prepair 1000+ v0.0 OCA2 Zornitza Stark gene: OCA2 was added
gene: OCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)
Prepair 1000+ v0.0 OBSL1 Zornitza Stark gene: OBSL1 was added
gene: OBSL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)
Prepair 1000+ v0.0 NYX Zornitza Stark gene: NYX was added
gene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500
Prepair 1000+ v0.0 NUP93 Zornitza Stark gene: NUP93 was added
gene: NUP93 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive
Prepair 1000+ v0.0 NUP62 Zornitza Stark gene: NUP62 was added
gene: NUP62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)
Prepair 1000+ v0.0 NUP107 Zornitza Stark gene: NUP107 was added
gene: NUP107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive
Prepair 1000+ v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NTRK1 Zornitza Stark gene: NTRK1 was added
gene: NTRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Prepair 1000+ v0.0 NT5C2 Zornitza Stark gene: NT5C2 was added
gene: NT5C2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)
Prepair 1000+ v0.0 NSUN2 Zornitza Stark gene: NSUN2 was added
gene: NSUN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)
Prepair 1000+ v0.0 NSDHL Zornitza Stark gene: NSDHL was added
gene: NSDHL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)
Prepair 1000+ v0.0 NR0B1 Zornitza Stark gene: NR0B1 was added
gene: NR0B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)
Prepair 1000+ v0.0 NPR2 Zornitza Stark gene: NPR2 was added
gene: NPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Prepair 1000+ v0.0 NPHS2 Zornitza Stark gene: NPHS2 was added
gene: NPHS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)
Prepair 1000+ v0.0 NPHS1 Zornitza Stark gene: NPHS1 was added
gene: NPHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)
Prepair 1000+ v0.0 NPHP4 Zornitza Stark gene: NPHP4 was added
gene: NPHP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)
Prepair 1000+ v0.0 NPHP3 Zornitza Stark gene: NPHP3 was added
gene: NPHP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)
Prepair 1000+ v0.0 NPHP1 Zornitza Stark gene: NPHP1 was added
gene: NPHP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)
Prepair 1000+ v0.0 NPC2 Zornitza Stark gene: NPC2 was added
gene: NPC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)
Prepair 1000+ v0.0 NPC1 Zornitza Stark gene: NPC1 was added
gene: NPC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)
Prepair 1000+ v0.0 NNT Zornitza Stark gene: NNT was added
gene: NNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)
Prepair 1000+ v0.0 NMNAT1 Zornitza Stark gene: NMNAT1 was added
gene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)
Prepair 1000+ v0.0 NLGN4X Zornitza Stark gene: NLGN4X was added
gene: NLGN4X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)
Prepair 1000+ v0.0 NKX6-2 Zornitza Stark gene: NKX6-2 was added
gene: NKX6-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
Prepair 1000+ v0.0 NKX3-2 Zornitza Stark gene: NKX3-2 was added
gene: NKX3-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
Prepair 1000+ v0.0 NIPAL4 Zornitza Stark gene: NIPAL4 was added
gene: NIPAL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)
Prepair 1000+ v0.0 NHS Zornitza Stark gene: NHS was added
gene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHS 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: NHS were set to Cataract 40, X-linked, 302200 (3)
Prepair 1000+ v0.0 NHLRC1 Zornitza Stark gene: NHLRC1 was added
gene: NHLRC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
Prepair 1000+ v0.0 NHEJ1 Zornitza Stark gene: NHEJ1 was added
gene: NHEJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)
Prepair 1000+ v0.0 NGLY1 Zornitza Stark gene: NGLY1 was added
gene: NGLY1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)
Prepair 1000+ v0.0 NGF Zornitza Stark gene: NGF was added
gene: NGF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)
Prepair 1000+ v0.0 NFU1 Zornitza Stark gene: NFU1 was added
gene: NFU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)
Prepair 1000+ v0.0 NEXMIF Zornitza Stark gene: NEXMIF was added
gene: NEXMIF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEXMIF 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: NEXMIF were set to Mental retardation, X-linked 98, MIM #300912
Prepair 1000+ v0.0 NEU1 Zornitza Stark gene: NEU1 was added
gene: NEU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)
Prepair 1000+ v0.0 NEK8 Zornitza Stark gene: NEK8 was added
gene: NEK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive
Prepair 1000+ v0.0 NEK1 Zornitza Stark gene: NEK1 was added
gene: NEK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
Prepair 1000+ v0.0 NECTIN1 Zornitza Stark gene: NECTIN1 was added
gene: NECTIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)
Prepair 1000+ v0.0 NEB Zornitza Stark gene: NEB was added
gene: NEB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)
Prepair 1000+ v0.0 NDUFV2 Zornitza Stark gene: NDUFV2 was added
gene: NDUFV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFV1 Zornitza Stark gene: NDUFV1 was added
gene: NDUFV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS8 Zornitza Stark gene: NDUFS8 was added
gene: NDUFS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFS6 Zornitza Stark gene: NDUFS6 was added
gene: NDUFS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS4 Zornitza Stark gene: NDUFS4 was added
gene: NDUFS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFS2 Zornitza Stark gene: NDUFS2 was added
gene: NDUFS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFS1 Zornitza Stark gene: NDUFS1 was added
gene: NDUFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFAF6 Zornitza Stark gene: NDUFAF6 was added
gene: NDUFAF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)
Prepair 1000+ v0.0 NDUFAF5 Zornitza Stark gene: NDUFAF5 was added
gene: NDUFAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFAF2 Zornitza Stark gene: NDUFAF2 was added
gene: NDUFAF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)
Prepair 1000+ v0.0 NDUFA11 Zornitza Stark gene: NDUFA11 was added
gene: NDUFA11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDUFA10 Zornitza Stark gene: NDUFA10 was added
gene: NDUFA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial
Prepair 1000+ v0.0 NDUFA1 Zornitza Stark gene: NDUFA1 was added
gene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)
Prepair 1000+ v0.0 NDRG1 Zornitza Stark gene: NDRG1 was added
gene: NDRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)
Prepair 1000+ v0.0 NDP Zornitza Stark gene: NDP was added
gene: NDP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDP were set to Norrie disease, 310600 (3)
Prepair 1000+ v0.0 NDE1 Zornitza Stark gene: NDE1 was added
gene: NDE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)
Prepair 1000+ v0.0 NCF2 Zornitza Stark gene: NCF2 was added
gene: NCF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
Prepair 1000+ v0.0 NCF1 Zornitza Stark gene: NCF1 was added
gene: NCF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
Prepair 1000+ v0.0 NBN Zornitza Stark gene: NBN was added
gene: NBN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)
Prepair 1000+ v0.0 NBAS Zornitza Stark gene: NBAS was added
gene: NBAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
Prepair 1000+ v0.0 NAXE Zornitza Stark gene: NAXE was added
gene: NAXE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive
Prepair 1000+ v0.0 NARS2 Zornitza Stark gene: NARS2 was added
gene: NARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)
Prepair 1000+ v0.0 NANS Zornitza Stark gene: NANS was added
gene: NANS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive
Prepair 1000+ v0.0 NALCN Zornitza Stark gene: NALCN was added
gene: NALCN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)
Prepair 1000+ v0.0 NAGS Zornitza Stark gene: NAGS was added
gene: NAGS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)
Prepair 1000+ v0.0 NAGLU Zornitza Stark gene: NAGLU was added
gene: NAGLU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)
Prepair 1000+ v0.0 NAGA Zornitza Stark gene: NAGA was added
gene: NAGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)
Prepair 1000+ v0.0 NAA10 Zornitza Stark gene: NAA10 was added
gene: NAA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)
Prepair 1000+ v0.0 MYO7A Zornitza Stark gene: MYO7A was added
gene: MYO7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)
Prepair 1000+ v0.0 MYO5B Zornitza Stark gene: MYO5B was added
gene: MYO5B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)
Prepair 1000+ v0.0 MYMK Zornitza Stark gene: MYMK was added
gene: MYMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive
Prepair 1000+ v0.0 MYD88 Zornitza Stark gene: MYD88 was added
gene: MYD88 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)
Prepair 1000+ v0.0 MVK Zornitza Stark gene: MVK was added
gene: MVK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)
Prepair 1000+ v0.0 MUT Zornitza Stark gene: MUT was added
gene: MUT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)
Prepair 1000+ v0.0 MUSK Zornitza Stark gene: MUSK was added
gene: MUSK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
Prepair 1000+ v0.0 MTTP Zornitza Stark gene: MTTP was added
gene: MTTP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)
Prepair 1000+ v0.0 MTRR Zornitza Stark gene: MTRR was added
gene: MTRR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)
Prepair 1000+ v0.0 MTR Zornitza Stark gene: MTR was added
gene: MTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
Prepair 1000+ v0.0 MTO1 Zornitza Stark gene: MTO1 was added
gene: MTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)
Prepair 1000+ v0.0 MTMR2 Zornitza Stark gene: MTMR2 was added
gene: MTMR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
Prepair 1000+ v0.0 MTM1 Zornitza Stark gene: MTM1 was added
gene: MTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)
Prepair 1000+ v0.0 MTHFR Zornitza Stark gene: MTHFR was added
gene: MTHFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)
Prepair 1000+ v0.0 MTHFD1 Zornitza Stark gene: MTHFD1 was added
gene: MTHFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive
Prepair 1000+ v0.0 MTFMT Zornitza Stark gene: MTFMT was added
gene: MTFMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)
Prepair 1000+ v0.0 MSTO1 Zornitza Stark gene: MSTO1 was added
gene: MSTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSTO1 were set to 30684668; 31463572
Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675
Prepair 1000+ v0.0 MRE11 Zornitza Stark gene: MRE11 was added
gene: MRE11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)
Prepair 1000+ v0.0 MRAP Zornitza Stark gene: MRAP was added
gene: MRAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)
Prepair 1000+ v0.0 MPZ Zornitza Stark gene: MPZ was added
gene: MPZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)
Prepair 1000+ v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
Prepair 1000+ v0.0 MPLKIP Zornitza Stark gene: MPLKIP was added
gene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)
Prepair 1000+ v0.0 MPL Zornitza Stark gene: MPL was added
gene: MPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)
Prepair 1000+ v0.0 MPI Zornitza Stark gene: MPI was added
gene: MPI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)
Prepair 1000+ v0.0 MPDZ Zornitza Stark gene: MPDZ was added
gene: MPDZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
Prepair 1000+ v0.0 MOCS2 Zornitza Stark gene: MOCS2 was added
gene: MOCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)
Prepair 1000+ v0.0 MOCS1 Zornitza Stark gene: MOCS1 was added
gene: MOCS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)
Prepair 1000+ v0.0 MMP21 Zornitza Stark gene: MMP21 was added
gene: MMP21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive
Prepair 1000+ v0.0 MMP2 Zornitza Stark gene: MMP2 was added
gene: MMP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)
Prepair 1000+ v0.0 MMADHC Zornitza Stark gene: MMADHC was added
gene: MMADHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)
Prepair 1000+ v0.0 MMACHC Zornitza Stark gene: MMACHC was added
gene: MMACHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
Prepair 1000+ v0.0 MMAB Zornitza Stark gene: MMAB was added
gene: MMAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
Prepair 1000+ v0.0 MMAA Zornitza Stark gene: MMAA was added
gene: MMAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)
Prepair 1000+ v0.0 MLYCD Zornitza Stark gene: MLYCD was added
gene: MLYCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)
Prepair 1000+ v0.0 MLC1 Zornitza Stark gene: MLC1 was added
gene: MLC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)
Prepair 1000+ v0.0 MKS1 Zornitza Stark gene: MKS1 was added
gene: MKS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)
Prepair 1000+ v0.0 MKKS Zornitza Stark gene: MKKS was added
gene: MKKS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)
Prepair 1000+ v0.0 MID1 Zornitza Stark gene: MID1 was added
gene: MID1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)
Prepair 1000+ v0.0 MICU1 Zornitza Stark gene: MICU1 was added
gene: MICU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)
Prepair 1000+ v0.0 MGP Zornitza Stark gene: MGP was added
gene: MGP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)
Prepair 1000+ v0.0 MGME1 Zornitza Stark gene: MGME1 was added
gene: MGME1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)
Prepair 1000+ v0.0 MGAT2 Zornitza Stark gene: MGAT2 was added
gene: MGAT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)
Prepair 1000+ v0.0 MFSD8 Zornitza Stark gene: MFSD8 was added
gene: MFSD8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)
Prepair 1000+ v0.0 MFSD2A Zornitza Stark gene: MFSD2A was added
gene: MFSD2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive
Prepair 1000+ v0.0 MFN2 Zornitza Stark gene: MFN2 was added
gene: MFN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive
Prepair 1000+ v0.0 METTL23 Zornitza Stark gene: METTL23 was added
gene: METTL23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)
Prepair 1000+ v0.0 MESP2 Zornitza Stark gene: MESP2 was added
gene: MESP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
Prepair 1000+ v0.0 MERTK Zornitza Stark gene: MERTK was added
gene: MERTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)
Prepair 1000+ v0.0 MEGF8 Zornitza Stark gene: MEGF8 was added
gene: MEGF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)
Prepair 1000+ v0.0 MEGF10 Zornitza Stark gene: MEGF10 was added
gene: MEGF10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)
Prepair 1000+ v0.0 MED25 Zornitza Stark gene: MED25 was added
gene: MED25 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)
Prepair 1000+ v0.0 MED23 Zornitza Stark gene: MED23 was added
gene: MED23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)
Prepair 1000+ v0.0 MED17 Zornitza Stark gene: MED17 was added
gene: MED17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
Prepair 1000+ v0.0 MED12 Zornitza Stark gene: MED12 was added
gene: MED12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)
Prepair 1000+ v0.0 MECP2 Zornitza Stark gene: MECP2 was added
gene: MECP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)
Prepair 1000+ v0.0 MCPH1 Zornitza Stark gene: MCPH1 was added
gene: MCPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)
Prepair 1000+ v0.0 MCOLN1 Zornitza Stark gene: MCOLN1 was added
gene: MCOLN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)
Prepair 1000+ v0.0 MCM4 Zornitza Stark gene: MCM4 was added
gene: MCM4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)
Prepair 1000+ v0.0 MCFD2 Zornitza Stark gene: MCFD2 was added
gene: MCFD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)
Prepair 1000+ v0.0 MC2R Zornitza Stark gene: MC2R was added
gene: MC2R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)
Prepair 1000+ v0.0 MBTPS2 Zornitza Stark gene: MBTPS2 was added
gene: MBTPS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Prepair 1000+ v0.0 MBOAT7 Zornitza Stark gene: MBOAT7 was added
gene: MBOAT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)
Prepair 1000+ v0.0 MASP1 Zornitza Stark gene: MASP1 was added
gene: MASP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)
Prepair 1000+ v0.0 MARS2 Zornitza Stark gene: MARS2 was added
gene: MARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)
Prepair 1000+ v0.0 MARS Zornitza Stark gene: MARS was added
gene: MARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)
Prepair 1000+ v0.0 MAPKBP1 Zornitza Stark gene: MAPKBP1 was added
gene: MAPKBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive
Prepair 1000+ v0.0 MAOA Zornitza Stark gene: MAOA was added
gene: MAOA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)
Prepair 1000+ v0.0 MANBA Zornitza Stark gene: MANBA was added
gene: MANBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)
Prepair 1000+ v0.0 MAN2B1 Zornitza Stark gene: MAN2B1 was added
gene: MAN2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)
Prepair 1000+ v0.0 MAN1B1 Zornitza Stark gene: MAN1B1 was added
gene: MAN1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)
Prepair 1000+ v0.0 MALT1 Zornitza Stark gene: MALT1 was added
gene: MALT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)
Prepair 1000+ v0.0 LZTFL1 Zornitza Stark gene: LZTFL1 was added
gene: LZTFL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)
Prepair 1000+ v0.0 LYST Zornitza Stark gene: LYST was added
gene: LYST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)
Prepair 1000+ v0.0 LYRM7 Zornitza Stark gene: LYRM7 was added
gene: LYRM7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive
Prepair 1000+ v0.0 LTBP4 Zornitza Stark gene: LTBP4 was added
gene: LTBP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)
Prepair 1000+ v0.0 LTBP3 Zornitza Stark gene: LTBP3 was added
gene: LTBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)
Prepair 1000+ v0.0 LRSAM1 Zornitza Stark gene: LRSAM1 was added
gene: LRSAM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
Prepair 1000+ v0.0 LRRC6 Zornitza Stark gene: LRRC6 was added
gene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)
Prepair 1000+ v0.0 LRPPRC Zornitza Stark gene: LRPPRC was added
gene: LRPPRC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)
Prepair 1000+ v0.0 LRP5 Zornitza Stark gene: LRP5 was added
gene: LRP5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)
Prepair 1000+ v0.0 LRP4 Zornitza Stark gene: LRP4 was added
gene: LRP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)
Prepair 1000+ v0.0 LRP2 Zornitza Stark gene: LRP2 was added
gene: LRP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)
Prepair 1000+ v0.0 LRMDA Zornitza Stark gene: LRMDA was added
gene: LRMDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)
Prepair 1000+ v0.0 LRIG2 Zornitza Stark gene: LRIG2 was added
gene: LRIG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)
Prepair 1000+ v0.0 LRBA Zornitza Stark gene: LRBA was added
gene: LRBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
Prepair 1000+ v0.0 LRAT Zornitza Stark gene: LRAT was added
gene: LRAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)
Prepair 1000+ v0.0 LPL Zornitza Stark gene: LPL was added
gene: LPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)
Prepair 1000+ v0.0 LPIN2 Zornitza Stark gene: LPIN2 was added
gene: LPIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)
Prepair 1000+ v0.0 LPIN1 Zornitza Stark gene: LPIN1 was added
gene: LPIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)
Prepair 1000+ v0.0 LONP1 Zornitza Stark gene: LONP1 was added
gene: LONP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)
Prepair 1000+ v0.0 LMOD3 Zornitza Stark gene: LMOD3 was added
gene: LMOD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)
Prepair 1000+ v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 1000+ v0.0 LMBRD1 Zornitza Stark gene: LMBRD1 was added
gene: LMBRD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)
Prepair 1000+ v0.0 LMBR1 Zornitza Stark gene: LMBR1 was added
gene: LMBR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)
Prepair 1000+ v0.0 LMAN1 Zornitza Stark gene: LMAN1 was added
gene: LMAN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)
Prepair 1000+ v0.0 LIPT1 Zornitza Stark gene: LIPT1 was added
gene: LIPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)
Prepair 1000+ v0.0 LIPC Zornitza Stark gene: LIPC was added
gene: LIPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)
Prepair 1000+ v0.0 LIPA Zornitza Stark gene: LIPA was added
gene: LIPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)
Prepair 1000+ v0.0 LINS1 Zornitza Stark gene: LINS1 was added
gene: LINS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)
Prepair 1000+ v0.0 LIG4 Zornitza Stark gene: LIG4 was added
gene: LIG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)
Prepair 1000+ v0.0 LIFR Zornitza Stark gene: LIFR was added
gene: LIFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
Prepair 1000+ v0.0 LIAS Zornitza Stark gene: LIAS was added
gene: LIAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)
Prepair 1000+ v0.0 LHX3 Zornitza Stark gene: LHX3 was added
gene: LHX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)
Prepair 1000+ v0.0 LGI4 Zornitza Stark gene: LGI4 was added
gene: LGI4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive
Prepair 1000+ v0.0 LEP Zornitza Stark gene: LEP was added
gene: LEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)
Prepair 1000+ v0.0 LDLRAP1 Zornitza Stark gene: LDLRAP1 was added
gene: LDLRAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
Prepair 1000+ v0.0 LDLR Zornitza Stark gene: LDLR was added
gene: LDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial
Prepair 1000+ v0.0 LDHB Zornitza Stark gene: LDHB was added
gene: LDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LDHB were set to 6383647
Phenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, MIM# 614128
Prepair 1000+ v0.0 LDHA Zornitza Stark gene: LDHA was added
gene: LDHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)
Prepair 1000+ v0.0 LCAT Zornitza Stark gene: LCAT was added
gene: LCAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCAT were set to Norum disease, 245900 (3)
Prepair 1000+ v0.0 LCA5 Zornitza Stark gene: LCA5 was added
gene: LCA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)
Prepair 1000+ v0.0 LBR Zornitza Stark gene: LBR was added
gene: LBR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)
Prepair 1000+ v0.0 LAT Zornitza Stark gene: LAT was added
gene: LAT was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAT were set to 27522155; 27242165
Phenotypes for gene: LAT were set to Immunodeficiency 52, MIM# 617514
Prepair 1000+ v0.0 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)
Prepair 1000+ v0.0 LARS Zornitza Stark gene: LARS was added
gene: LARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438
Prepair 1000+ v0.0 LARP7 Zornitza Stark gene: LARP7 was added
gene: LARP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)
Prepair 1000+ v0.0 LARGE1 Zornitza Stark gene: LARGE1 was added
gene: LARGE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)
Prepair 1000+ v0.0 LAMC3 Zornitza Stark gene: LAMC3 was added
gene: LAMC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)
Prepair 1000+ v0.0 LAMC2 Zornitza Stark gene: LAMC2 was added
gene: LAMC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMB3 Zornitza Stark gene: LAMB3 was added
gene: LAMB3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMB2 Zornitza Stark gene: LAMB2 was added
gene: LAMB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)
Prepair 1000+ v0.0 LAMB1 Zornitza Stark gene: LAMB1 was added
gene: LAMB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)
Prepair 1000+ v0.0 LAMA3 Zornitza Stark gene: LAMA3 was added
gene: LAMA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Prepair 1000+ v0.0 LAMA2 Zornitza Stark gene: LAMA2 was added
gene: LAMA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Prepair 1000+ v0.0 LAMA1 Zornitza Stark gene: LAMA1 was added
gene: LAMA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)
Prepair 1000+ v0.0 L2HGDH Zornitza Stark gene: L2HGDH was added
gene: L2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)
Prepair 1000+ v0.0 L1CAM Zornitza Stark gene: L1CAM was added
gene: L1CAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)
Prepair 1000+ v0.0 KY Zornitza Stark gene: KY was added
gene: KY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive
Prepair 1000+ v0.0 KRT85 Zornitza Stark gene: KRT85 was added
gene: KRT85 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)
Prepair 1000+ v0.0 KRT5 Zornitza Stark gene: KRT5 was added
gene: KRT5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 KRT14 Zornitza Stark gene: KRT14 was added
gene: KRT14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Prepair 1000+ v0.0 KRT10 Zornitza Stark gene: KRT10 was added
gene: KRT10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive
Prepair 1000+ v0.0 KPTN Zornitza Stark gene: KPTN was added
gene: KPTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)
Prepair 1000+ v0.0 KNL1 Zornitza Stark gene: KNL1 was added
gene: KNL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)
Prepair 1000+ v0.0 KLHL7 Zornitza Stark gene: KLHL7 was added
gene: KLHL7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)
Prepair 1000+ v0.0 KLHL41 Zornitza Stark gene: KLHL41 was added
gene: KLHL41 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)
Prepair 1000+ v0.0 KLHL40 Zornitza Stark gene: KLHL40 was added
gene: KLHL40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)
Prepair 1000+ v0.0 KIF7 Zornitza Stark gene: KIF7 was added
gene: KIF7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)
Prepair 1000+ v0.0 KIF1C Zornitza Stark gene: KIF1C was added
gene: KIF1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)
Prepair 1000+ v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)
Prepair 1000+ v0.0 KIF1A Zornitza Stark gene: KIF1A was added
gene: KIF1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)
Prepair 1000+ v0.0 KIF14 Zornitza Stark gene: KIF14 was added
gene: KIF14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)
Prepair 1000+ v0.0 KIAA1109 Zornitza Stark gene: KIAA1109 was added
gene: KIAA1109 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive
Prepair 1000+ v0.0 KIAA0586 Zornitza Stark gene: KIAA0586 was added
gene: KIAA0586 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive
Prepair 1000+ v0.0 KDM5C Zornitza Stark gene: KDM5C was added
gene: KDM5C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)
Prepair 1000+ v0.0 KCTD7 Zornitza Stark gene: KCTD7 was added
gene: KCTD7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)
Prepair 1000+ v0.0 KCNV2 Zornitza Stark gene: KCNV2 was added
gene: KCNV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)
Prepair 1000+ v0.0 KCNQ1 Zornitza Stark gene: KCNQ1 was added
gene: KCNQ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)
Prepair 1000+ v0.0 KCNJ11 Zornitza Stark gene: KCNJ11 was added
gene: KCNJ11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Prepair 1000+ v0.0 KCNJ10 Zornitza Stark gene: KCNJ10 was added
gene: KCNJ10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)
Prepair 1000+ v0.0 KCNJ1 Zornitza Stark gene: KCNJ1 was added
gene: KCNJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)
Prepair 1000+ v0.0 KATNB1 Zornitza Stark gene: KATNB1 was added
gene: KATNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)
Prepair 1000+ v0.0 JUP Zornitza Stark gene: JUP was added
gene: JUP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JUP were set to Naxos disease, 601214 (3)
Prepair 1000+ v0.0 JAM3 Zornitza Stark gene: JAM3 was added
gene: JAM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)
Prepair 1000+ v0.0 JAK3 Zornitza Stark gene: JAK3 was added
gene: JAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)
Prepair 1000+ v0.0 JAGN1 Zornitza Stark gene: JAGN1 was added
gene: JAGN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)
Prepair 1000+ v0.0 IVD Zornitza Stark gene: IVD was added
gene: IVD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)
Prepair 1000+ v0.0 ITPR1 Zornitza Stark gene: ITPR1 was added
gene: ITPR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive
Prepair 1000+ v0.0 ITK Zornitza Stark gene: ITK was added
gene: ITK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)
Prepair 1000+ v0.0 ITGB4 Zornitza Stark gene: ITGB4 was added
gene: ITGB4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)
Prepair 1000+ v0.0 ITGB2 Zornitza Stark gene: ITGB2 was added
gene: ITGB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)
Prepair 1000+ v0.0 ITGA6 Zornitza Stark gene: ITGA6 was added
gene: ITGA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Prepair 1000+ v0.0 ITCH Zornitza Stark gene: ITCH was added
gene: ITCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
Prepair 1000+ v0.0 ISPD Zornitza Stark gene: ISPD was added
gene: ISPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Prepair 1000+ v0.0 ISCA2 Zornitza Stark gene: ISCA2 was added
gene: ISCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)
Prepair 1000+ v0.0 IQSEC2 Zornitza Stark gene: IQSEC2 was added
gene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)
Prepair 1000+ v0.0 IQCB1 Zornitza Stark gene: IQCB1 was added
gene: IQCB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)
Prepair 1000+ v0.0 INVS Zornitza Stark gene: INVS was added
gene: INVS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)
Prepair 1000+ v0.0 INSR Zornitza Stark gene: INSR was added
gene: INSR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INSR were set to Leprechaunism, 246200 (3)
Prepair 1000+ v0.0 INPPL1 Zornitza Stark gene: INPPL1 was added
gene: INPPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)
Prepair 1000+ v0.0 INPP5K Zornitza Stark gene: INPP5K was added
gene: INPP5K was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive
Prepair 1000+ v0.0 INPP5E Zornitza Stark gene: INPP5E was added
gene: INPP5E was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)
Prepair 1000+ v0.0 IL7R Zornitza Stark gene: IL7R was added
gene: IL7R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)
Prepair 1000+ v0.0 IL2RG Zornitza Stark gene: IL2RG was added
gene: IL2RG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)
Prepair 1000+ v0.0 IL1RN Zornitza Stark gene: IL1RN was added
gene: IL1RN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)
Prepair 1000+ v0.0 IL1RAPL1 Zornitza Stark gene: IL1RAPL1 was added
gene: IL1RAPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)
Prepair 1000+ v0.0 IL17RA Zornitza Stark gene: IL17RA was added
gene: IL17RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive
Prepair 1000+ v0.0 IL12RB1 Zornitza Stark gene: IL12RB1 was added
gene: IL12RB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)
Prepair 1000+ v0.0 IL11RA Zornitza Stark gene: IL11RA was added
gene: IL11RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)
Prepair 1000+ v0.0 IL10RB Zornitza Stark gene: IL10RB was added
gene: IL10RB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL10RB were set to 22549091
Phenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657
Prepair 1000+ v0.0 IL10RA Zornitza Stark gene: IL10RA was added
gene: IL10RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
Prepair 1000+ v0.0 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)
Prepair 1000+ v0.0 IKBKB Zornitza Stark gene: IKBKB was added
gene: IKBKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)
Prepair 1000+ v0.0 IGHMBP2 Zornitza Stark gene: IGHMBP2 was added
gene: IGHMBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)
Prepair 1000+ v0.0 IGHM Zornitza Stark gene: IGHM was added
gene: IGHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)
Prepair 1000+ v0.0 IGFBP7 Zornitza Stark gene: IGFBP7 was added
gene: IGFBP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
Prepair 1000+ v0.0 IGF1R Zornitza Stark gene: IGF1R was added
gene: IGF1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)
Prepair 1000+ v0.0 IFT80 Zornitza Stark gene: IFT80 was added
gene: IFT80 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)
Prepair 1000+ v0.0 IFT172 Zornitza Stark gene: IFT172 was added
gene: IFT172 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)
Prepair 1000+ v0.0 IFT140 Zornitza Stark gene: IFT140 was added
gene: IFT140 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)
Prepair 1000+ v0.0 IFT122 Zornitza Stark gene: IFT122 was added
gene: IFT122 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)
Prepair 1000+ v0.0 IFNGR2 Zornitza Stark gene: IFNGR2 was added
gene: IFNGR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)
Prepair 1000+ v0.0 IFNGR1 Zornitza Stark gene: IFNGR1 was added
gene: IFNGR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)
Prepair 1000+ v0.0 IER3IP1 Zornitza Stark gene: IER3IP1 was added
gene: IER3IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
Prepair 1000+ v0.0 IDUA Zornitza Stark gene: IDUA was added
gene: IDUA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)
Prepair 1000+ v0.0 IDS Zornitza Stark gene: IDS was added
gene: IDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)
Prepair 1000+ v0.0 ICOS Zornitza Stark gene: ICOS was added
gene: ICOS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)
Prepair 1000+ v0.0 IBA57 Zornitza Stark gene: IBA57 was added
gene: IBA57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive
Prepair 1000+ v0.0 IARS2 Zornitza Stark gene: IARS2 was added
gene: IARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Prepair 1000+ v0.0 IARS Zornitza Stark gene: IARS was added
gene: IARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive
Prepair 1000+ v0.0 HYLS1 Zornitza Stark gene: HYLS1 was added
gene: HYLS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)
Prepair 1000+ v0.0 HYDIN Zornitza Stark gene: HYDIN was added
gene: HYDIN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)
Prepair 1000+ v0.0 HUWE1 Zornitza Stark gene: HUWE1 was added
gene: HUWE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)
Prepair 1000+ v0.0 HTRA2 Zornitza Stark gene: HTRA2 was added
gene: HTRA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive
Prepair 1000+ v0.0 HSPG2 Zornitza Stark gene: HSPG2 was added
gene: HSPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)
Prepair 1000+ v0.0 HSPD1 Zornitza Stark gene: HSPD1 was added
gene: HSPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)
Prepair 1000+ v0.0 HSD3B7 Zornitza Stark gene: HSD3B7 was added
gene: HSD3B7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)
Prepair 1000+ v0.0 HSD3B2 Zornitza Stark gene: HSD3B2 was added
gene: HSD3B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)
Prepair 1000+ v0.0 HSD17B4 Zornitza Stark gene: HSD17B4 was added
gene: HSD17B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)
Prepair 1000+ v0.0 HSD17B10 Zornitza Stark gene: HSD17B10 was added
gene: HSD17B10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease
Prepair 1000+ v0.0 HPSE2 Zornitza Stark gene: HPSE2 was added
gene: HPSE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)
Prepair 1000+ v0.0 HPS6 Zornitza Stark gene: HPS6 was added
gene: HPS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)
Prepair 1000+ v0.0 HPS5 Zornitza Stark gene: HPS5 was added
gene: HPS5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)
Prepair 1000+ v0.0 HPS4 Zornitza Stark gene: HPS4 was added
gene: HPS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)
Prepair 1000+ v0.0 HPS3 Zornitza Stark gene: HPS3 was added
gene: HPS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)
Prepair 1000+ v0.0 HPS1 Zornitza Stark gene: HPS1 was added
gene: HPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)
Prepair 1000+ v0.0 HPRT1 Zornitza Stark gene: HPRT1 was added
gene: HPRT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)
Prepair 1000+ v0.0 HPGD Zornitza Stark gene: HPGD was added
gene: HPGD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)
Prepair 1000+ v0.0 HPD Zornitza Stark gene: HPD was added
gene: HPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)
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
Mendeliome v1.31 MESP1 Zornitza Stark Phenotypes for gene: MESP1 were changed from Congenital heart disease to Congenital heart disease MONDO:0005453
Mendeliome v1.30 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Cerebral Palsy v1.23 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5; OMIM #613477 to Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related
Mendeliome v1.29 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy
Mendeliome v1.28 SPTAN1 Zornitza Stark edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans. Xie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation. Van de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523; Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hereditary Spastic Paraplegia - paediatric v1.30 SPTAN1 Zornitza Stark Marked gene: SPTAN1 as ready
Hereditary Spastic Paraplegia - paediatric v1.30 SPTAN1 Zornitza Stark Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.30 SPTAN1 Zornitza Stark Publications for gene: SPTAN1 were set to PMID: 35150594, 34526651, 31515523
Hereditary Spastic Paraplegia - paediatric v1.29 SPTAN1 Zornitza Stark Phenotypes for gene: SPTAN1 were changed from Spastic Paraplegia to Spastic Paraplegia MONDO:0019064, SPTAN1-related
Macrocephaly_Megalencephaly v0.113 ZDHHC9 Zornitza Stark Marked gene: ZDHHC9 as ready
Macrocephaly_Megalencephaly v0.113 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Macrocephaly_Megalencephaly v0.113 ZDHHC9 Zornitza Stark Phenotypes for gene: ZDHHC9 were changed from to Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM# 300799
Macrocephaly_Megalencephaly v0.112 ZDHHC9 Zornitza Stark Classified gene: ZDHHC9 as Green List (high evidence)
Macrocephaly_Megalencephaly v0.112 ZDHHC9 Zornitza Stark Gene: zdhhc9 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Marked gene: COL3A1 as ready
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Classified gene: COL3A1 as Green List (high evidence)
Polymicrogyria and Schizencephaly v0.176 COL3A1 Zornitza Stark Gene: col3a1 has been classified as Green List (High Evidence).
Fetal anomalies v1.38 ETV2 Zornitza Stark Marked gene: ETV2 as ready
Fetal anomalies v1.38 ETV2 Zornitza Stark Gene: etv2 has been classified as Red List (Low Evidence).
Fetal anomalies v1.38 ETV2 Zornitza Stark gene: ETV2 was added
gene: ETV2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETV2 were set to 33359164
Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations
Review for gene: ETV2 was set to RED
Added comment: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Expert Review
Genetic Epilepsy v0.1610 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Epilepsy; Developmental Delay; Intellectual Disability to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Intellectual disability syndromic and non-syndromic v0.4806 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Mendeliome v1.28 U2AF2 Zornitza Stark Phenotypes for gene: U2AF2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, U2AF2-related
Intellectual disability syndromic and non-syndromic v0.4805 MMGT1 Zornitza Stark Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Intellectual disability syndromic and non-syndromic v0.4804 MMGT1 Zornitza Stark edited their review of gene: MMGT1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Mendeliome v1.27 MMGT1 Zornitza Stark Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related
Mendeliome v1.26 MSX1 Zornitza Stark Publications for gene: MSX1 were set to 33419968, 33708320, 32192766
Proteinuria v0.204 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Proteinuria v0.204 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Mendeliome v1.25 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Mendeliome v1.24 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.136 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Deafness_IsolatedAndComplex v1.136 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Anophthalmia_Microphthalmia_Coloboma v1.22 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Callosome v0.452 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Callosome v0.452 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Callosome v0.452 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM#222448
Callosome v0.451 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Callosome v0.450 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4804 LRP2 Zornitza Stark Marked gene: LRP2 as ready
Intellectual disability syndromic and non-syndromic v0.4804 LRP2 Zornitza Stark Gene: lrp2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4804 LRP2 Zornitza Stark Phenotypes for gene: LRP2 were changed from to Donnai-Barrow syndrome, MIM#222448
Intellectual disability syndromic and non-syndromic v0.4803 LRP2 Zornitza Stark Publications for gene: LRP2 were set to
Intellectual disability syndromic and non-syndromic v0.4802 LRP2 Zornitza Stark Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.37 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Fetal anomalies v1.37 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Fetal anomalies v1.37 ADD1 Zornitza Stark Classified gene: ADD1 as Green List (high evidence)
Fetal anomalies v1.37 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Fetal anomalies v1.36 ADD1 Zornitza Stark gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder MONDO:0700092, ADD1-related
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Expert Review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 CRYAB Teresa Zhao Deleted their review
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.63 CRYAB Teresa Zhao reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31215171; Phenotypes: Myofibrillar myopathy, fatal infantile hypertonic, alpha-B crystallin-related (MIM#613869); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.344 CRYAB Teresa Zhao reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 26402864; Phenotypes: Cataract 16, multiple types (MIM#613763); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v1.23 AURKC Zornitza Stark Publications for gene: AURKC were set to
Mendeliome v1.22 AURKC Zornitza Stark Classified gene: AURKC as Green List (high evidence)
Mendeliome v1.22 AURKC Zornitza Stark Gene: aurkc has been classified as Green List (High Evidence).
Mendeliome v1.21 AURKC Zornitza Stark reviewed gene: AURKC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21733974, 19147683; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Marked gene: ATPAF2 as ready
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Gene: atpaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.130 ATPAF2 Zornitza Stark Publications for gene: ATPAF2 were set to
Mendeliome v1.21 GJA5 Zornitza Stark Classified gene: GJA5 as Amber List (moderate evidence)
Mendeliome v1.21 GJA5 Zornitza Stark Gene: gja5 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.20 GJA5 Zornitza Stark reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.16 GJA5 Zornitza Stark Marked gene: GJA5 as ready
Atrial Fibrillation v0.16 GJA5 Zornitza Stark Gene: gja5 has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v0.16 GJA5 Zornitza Stark Phenotypes for gene: GJA5 were changed from to Atrial fibrillation, familial, 11, OMIM# 614049
Atrial Fibrillation v0.15 GJA5 Zornitza Stark Publications for gene: GJA5 were set to
Atrial Fibrillation v0.14 GJA5 Zornitza Stark Mode of inheritance for gene: GJA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.13 GJA5 Zornitza Stark Classified gene: GJA5 as Amber List (moderate evidence)
Atrial Fibrillation v0.13 GJA5 Zornitza Stark Gene: gja5 has been classified as Amber List (Moderate Evidence).
Atrial Fibrillation v0.12 GJA5 Zornitza Stark reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4801 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to 25558065; 30237576
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.126 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Palmoplantar Keratoderma and Erythrokeratoderma v0.125 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.124 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Gene: gjb3 has been classified as Green List (High Evidence).
Palmoplantar Keratoderma and Erythrokeratoderma v0.123 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1, OMIM #133200
Palmoplantar Keratoderma and Erythrokeratoderma v0.122 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Palmoplantar Keratoderma and Erythrokeratoderma v0.121 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Arthrogryposis v0.348 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Arthrogryposis v0.348 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Arthrogryposis v0.348 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Arthrogryposis v0.347 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Arthrogryposis v0.346 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.278 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Hydrops fetalis v0.278 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Hydrops fetalis v0.278 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Hydrops fetalis v0.277 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Hydrops fetalis v0.276 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Cataract v0.344 GCNT2 Zornitza Stark Marked gene: GCNT2 as ready
Cataract v0.344 GCNT2 Zornitza Stark Gene: gcnt2 has been classified as Green List (High Evidence).
Cataract v0.344 GCNT2 Zornitza Stark Phenotypes for gene: GCNT2 were changed from to Cataract 13 with adult i phenotype, OMIM # 116700
Cataract v0.343 GCNT2 Zornitza Stark Publications for gene: GCNT2 were set to
Cataract v0.342 GCNT2 Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hyperinsulinism v0.32 GCK Zornitza Stark Marked gene: GCK as ready
Hyperinsulinism v0.32 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Hyperinsulinism v0.32 GCK Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Hyperinsulinism v0.31 GCK Zornitza Stark Publications for gene: GCK were set to
Hyperinsulinism v0.30 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.28 GCK Zornitza Stark Marked gene: GCK as ready
Monogenic Diabetes v0.28 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Monogenic Diabetes v0.28 GCK Zornitza Stark Phenotypes for gene: GCK were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young (MODY); Permanent Neonatal Diabetes Mellitus; Maturity Onset Diabetes of the Young (Dominant); MODY, type II, 125851; Fasting hyperglycaemia; Maturity Onset Diabetes of the Young; Neonatal diabetes; Hyperinsulinemic hypoglycemia, familial, 3, 602485; Permanent Neonatal Diabetes Mellitus (recessive); Transient Neonatal Diabetes, Recessive; Diabetes mellitus, noninsulin-dependent, late onset, 125853; MODY2; Diabetes mellitus, gestational, 125851 to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Monogenic Diabetes v0.27 GCK Zornitza Stark Publications for gene: GCK were set to
Mendeliome v1.20 GINS1 Zornitza Stark Phenotypes for gene: GINS1 were changed from to Immunodeficiency 55, OMIM #617827
Intellectual disability syndromic and non-syndromic v0.4800 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Intellectual disability syndromic and non-syndromic v0.4800 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4800 GFM2 Zornitza Stark Publications for gene: GFM2 were set to PMID: 22700954, 26016410, 29075935
Mitochondrial disease v0.827 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Mitochondrial disease v0.827 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.827 GFM2 Zornitza Stark Phenotypes for gene: GFM2 were changed from to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Mitochondrial disease v0.826 GFM2 Zornitza Stark Publications for gene: GFM2 were set to 22700954; 26016410; 29075935
Mitochondrial disease v0.825 GFM2 Zornitza Stark Publications for gene: GFM2 were set to
Mitochondrial disease v0.824 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.823 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.133 GIGYF2 Zornitza Stark Marked gene: GIGYF2 as ready
Early-onset Parkinson disease v0.133 GIGYF2 Zornitza Stark Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Regression v0.479 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Regression v0.479 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Regression v0.479 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Regression v0.478 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Regression v0.477 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Regression v0.476 GBA2 Zornitza Stark reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Ataxia - paediatric v0.339 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive, 614409; Spastic paraplegia 46, 614409 to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Ataxia - paediatric v0.338 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Marked gene: GAN as ready
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Hereditary Neuropathy - complex v0.127 GAN Zornitza Stark Phenotypes for gene: GAN were changed from HMSN; Giant axonal neuropathy-1 to Giant axonal neuropathy-1, MIM# 256850
Hereditary Neuropathy - complex v0.126 GAN Zornitza Stark Publications for gene: GAN were set to
Craniosynostosis v1.40 WDR19 Zornitza Stark Marked gene: WDR19 as ready
Craniosynostosis v1.40 WDR19 Zornitza Stark Gene: wdr19 has been classified as Green List (High Evidence).
Mendeliome v1.19 ATG16L1 Zornitza Stark reviewed gene: ATG16L1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v1.35 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Fetal anomalies v1.34 PLCH1 Zornitza Stark reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting disorders v0.180 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Clefting disorders v0.179 PLCH1 Zornitza Stark edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895
Intellectual disability syndromic and non-syndromic v0.4799 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Intellectual disability syndromic and non-syndromic v0.4798 PLCH1 Zornitza Stark edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895
Mendeliome v1.19 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Mendeliome v1.18 PLCH1 Zornitza Stark reviewed gene: PLCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 14, MIM# 619895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Holoprosencephaly and septo-optic dysplasia v1.4 PLCH1 Zornitza Stark Phenotypes for gene: PLCH1 were changed from Holoprosencephaly spectrum; Severe developmental delay; Brain malformations to Holoprosencephaly 14, MIM# 619895
Holoprosencephaly and septo-optic dysplasia v1.3 PLCH1 Zornitza Stark edited their review of gene: PLCH1: Changed phenotypes: Holoprosencephaly 14, MIM# 619895
Renal Ciliopathies and Nephronophthisis v1.11 TULP3 Zornitza Stark Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Renal Ciliopathies and Nephronophthisis v1.10 TULP3 Zornitza Stark reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hypertrophic cardiomyopathy_HCM v0.166 TULP3 Zornitza Stark Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Hypertrophic cardiomyopathy_HCM v0.165 TULP3 Zornitza Stark reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.18 TULP3 Zornitza Stark Phenotypes for gene: TULP3 were changed from progressive degenerative liver fibrosis with variable fibrocystic kidney disease; hypertrophic cardiomyopathy MONDO:0005045 to Hepatorenocardiac degenerative fibrosis, MIM# 619902
Mendeliome v1.17 TULP3 Zornitza Stark reviewed gene: TULP3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM# 619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.17 IKBKG Zornitza Stark edited their review of gene: IKBKG: Changed publications: 31874111, 35289316
Mendeliome v1.17 IKBKG Zornitza Stark Publications for gene: IKBKG were set to
Mendeliome v1.16 IKBKG Zornitza Stark Phenotypes for gene: IKBKG were changed from Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300 to Ectodermal dysplasia and immunodeficiency 1, MIM# 300291; Immunodeficiency 33 , MIM#300636; Incontinentia pigmenti, MIM# 308300; Autoinflammatory disease, systemic, X-linked, MIM# 301081
Mendeliome v1.15 IKBKG Zornitza Stark edited their review of gene: IKBKG: Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature. 6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features and with IP.; Changed phenotypes: Ectodermal dysplasia and immunodeficiency 1, MIM# 300291, Immunodeficiency 33 , MIM#300636, Incontinentia pigmenti, MIM# 308300, Autoinflammatory disease, systemic, X-linked, MIM# 301081
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Marked gene: IKBKG as ready
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Classified gene: IKBKG as Green List (high evidence)
Autoinflammatory Disorders v0.150 IKBKG Zornitza Stark Gene: ikbkg has been classified as Green List (High Evidence).
Autoinflammatory Disorders v0.149 IKBKG Zornitza Stark gene: IKBKG was added
gene: IKBKG was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IKBKG were set to 31874111; 35289316
Phenotypes for gene: IKBKG were set to Autoinflammatory disease, systemic, X-linked, MIM# 301081
Review for gene: IKBKG was set to GREEN
Added comment: X-linked systemic autoinflammatory disease (SAIDX) is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Additional manifestations may include inflammation of the optic nerve, intracranial hemorrhage, and lipodystrophy. Laboratory studies show hypogammaglobulinemia, increased or decreased white blood cell count, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature.

6 unrelated boys and a girl reported. All variants resulted in absence of the domain encoded by exon 5 (NEMOdelEx5).

Note variants in this gene are associated with immunodeficiency +/- ectodermal features.
Sources: Expert list
Fetal anomalies v1.34 MYO9A Zornitza Stark Publications for gene: MYO9A were set to 27259756; 29462312; 26752647
Fetal anomalies v1.33 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Fetal anomalies v1.33 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v1.32 MYO9A Zornitza Stark changed review comment from: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; to: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.

However, also note reports of fetal akinesia and hydrocephalus, which are pertinent to this panel.
Fetal anomalies v1.32 MYO9A Zornitza Stark edited their review of gene: MYO9A: Changed publications: 31130284, 30237576
Fetal anomalies v1.32 MYO9A Zornitza Stark edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER
Congenital ophthalmoplegia v1.6 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Congenital ophthalmoplegia v1.6 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Congenital ophthalmoplegia v1.5 MYO9A Zornitza Stark edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER; Changed phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Congenital Myasthenia v1.6 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Congenital Myasthenia v1.6 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Congenital Myasthenia v1.5 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic (MIM# 618198); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.15 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Mendeliome v1.15 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Mendeliome v1.14 MYO9A Zornitza Stark edited their review of gene: MYO9A: Added comment: This gene-disease association has been reviewed as part of GenCC discordance resolution: note at least two of the variants reported have homozygotes with gnomad, which would be out of keeping for a severe paediatric disorder.; Changed rating: AMBER
Arthrogryposis v0.345 MYO9A Zornitza Stark Phenotypes for gene: MYO9A were changed from MYASTHENIC SYNDROME, CONGENITAL, 24 OMIM# 618198 to Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198
Arthrogryposis v0.344 MYO9A Zornitza Stark Classified gene: MYO9A as Amber List (moderate evidence)
Arthrogryposis v0.344 MYO9A Zornitza Stark Gene: myo9a has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.343 MYO9A Zornitza Stark reviewed gene: MYO9A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cerebral Palsy v1.22 SPTAN1 Chirag Patel edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans.

Xie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation.

Van de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: PMID: 35150594, 34526651, 31515523; Changed phenotypes: Spastic Paraplegia
Hereditary Spastic Paraplegia - paediatric v1.28 SPTAN1 Chirag Patel Classified gene: SPTAN1 as Green List (high evidence)
Hereditary Spastic Paraplegia - paediatric v1.28 SPTAN1 Chirag Patel Gene: sptan1 has been classified as Green List (High Evidence).
Hereditary Spastic Paraplegia - paediatric v1.27 SPTAN1 Chirag Patel gene: SPTAN1 was added
gene: SPTAN1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature
Mode of inheritance for gene: SPTAN1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTAN1 were set to PMID: 35150594, 34526651, 31515523
Phenotypes for gene: SPTAN1 were set to Spastic Paraplegia
Review for gene: SPTAN1 was set to GREEN
Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans.

Xie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation.

Van de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4798 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from developmental epileptic encephalopathy, SLC38A3-related MONDO:0100062 to Developmental and epileptic encephalopathy 102, MIM# 619881
Intellectual disability syndromic and non-syndromic v0.4797 SLC38A3 Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1609 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881
Genetic Epilepsy v0.1608 SLC38A3 Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.125 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881
Microcephaly v1.124 SLC38A3 Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.14 SLC38A3 Zornitza Stark Phenotypes for gene: SLC38A3 were changed from Developmental epileptic encephalopathy MONDO:0100062, SLC38A3-related to Developmental and epileptic encephalopathy 102, MIM# 619881
Mendeliome v1.13 SLC38A3 Zornitza Stark reviewed gene: SLC38A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 102, MIM# 619881; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Macrocephaly_Megalencephaly v0.111 ZDHHC9 Lucy Spencer gene: ZDHHC9 was added
gene: ZDHHC9 was added to Macrocephaly_Megalencephaly. Sources: Literature
Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZDHHC9 were set to 29681091
Review for gene: ZDHHC9 was set to GREEN
Added comment: Macrocephaly reported in at least 5 individuals with ZDHHC9 variants and related conditions
Sources: Literature
Mendeliome v1.13 FAT2 Elena Savva Publications for gene: FAT2 were set to 29053796
Mendeliome v1.13 FAT2 Elena Savva Classified gene: FAT2 as Green List (high evidence)
Mendeliome v1.13 FAT2 Elena Savva Gene: fat2 has been classified as Green List (High Evidence).
Mendeliome v1.12 FAT2 Elena Savva reviewed gene: FAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33884300, 29053796; Phenotypes: Spinocerebellar ataxia 45, MIM#617769; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v1.32 GFRA1 Zornitza Stark Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Fetal anomalies v1.31 GFRA1 Zornitza Stark reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v1.12 GFRA1 Zornitza Stark Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Mendeliome v1.11 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.105 GFRA1 Zornitza Stark Phenotypes for gene: GFRA1 were changed from Renal agenesis to Renal hypodysplasia/aplasia 4, MIM# 619887
Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.104 GFRA1 Zornitza Stark edited their review of gene: GFRA1: Changed phenotypes: Renal hypodysplasia/aplasia 4, MIM# 619887
Intellectual disability syndromic and non-syndromic v0.4797 COPB2 Zornitza Stark Phenotypes for gene: COPB2 were changed from Osteoporosis and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Intellectual disability syndromic and non-syndromic v0.4796 COPB2 Zornitza Stark edited their review of gene: COPB2: Changed phenotypes: Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Osteogenesis Imperfecta and Osteoporosis v0.85 COPB2 Zornitza Stark Phenotypes for gene: COPB2 were changed from Osteoporosis, recurrent fractures and developmental delay to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Osteogenesis Imperfecta and Osteoporosis v0.84 COPB2 Zornitza Stark edited their review of gene: COPB2: Changed phenotypes: Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Mendeliome v1.11 COPB2 Zornitza Stark Phenotypes for gene: COPB2 were changed from Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis and developmental delay to Microcephaly 19, primary, autosomal recessive, MIM# 617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884
Mendeliome v1.10 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400
Mendeliome v1.9 ATP13A3 Zornitza Stark edited their review of gene: ATP13A3: Changed phenotypes: Primary pulmonary hypertension 5, MIM#265400
Pulmonary Arterial Hypertension v1.11 ATP13A3 Zornitza Stark Phenotypes for gene: ATP13A3 were changed from Pulmonary arterial hypertension to Primary pulmonary hypertension 5, MIM#265400
Pulmonary Arterial Hypertension v1.10 ATP13A3 Zornitza Stark reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary pulmonary hypertension 5, MIM#265400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Marked gene: RBFOX2 as ready
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Amber List (moderate evidence)
Congenital Heart Defect v0.215 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Congenital Heart Defect v0.214 RBFOX2 Zornitza Stark gene: RBFOX2 was added
gene: RBFOX2 was added to Congenital Heart Defect. Sources: Expert Review
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to 26785492; 27670201; 27485310; 25205790; 35137168; 26785492
Phenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS) MONDO:0004933
Review for gene: RBFOX2 was set to AMBER
Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Sources: Expert Review
Mendeliome v1.9 RBFOX2 Zornitza Stark Marked gene: RBFOX2 as ready
Mendeliome v1.9 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.9 RBFOX2 Zornitza Stark Phenotypes for gene: RBFOX2 were changed from Hypoplastic left heart syndrome (HLHS) to Hypoplastic left heart syndrome (HLHS) MONDO:0004933
Mendeliome v1.8 RBFOX2 Zornitza Stark Classified gene: RBFOX2 as Amber List (moderate evidence)
Mendeliome v1.8 RBFOX2 Zornitza Stark Gene: rbfox2 has been classified as Amber List (Moderate Evidence).
Radial Ray Abnormalities v1.2 MECOM Zornitza Stark Marked gene: MECOM as ready
Radial Ray Abnormalities v1.2 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Skeletal dysplasia v0.176 MECOM Zornitza Stark Marked gene: MECOM as ready
Skeletal dysplasia v0.176 MECOM Zornitza Stark Gene: mecom has been classified as Green List (High Evidence).
Callosome v0.449 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Callosome v0.449 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.449 ADD1 Zornitza Stark Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related; Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Intellectual disability syndromic and non-syndromic v0.4796 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Intellectual disability syndromic and non-syndromic v0.4796 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4796 ADD1 Zornitza Stark Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related; Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Mendeliome v1.7 PROSER1 Zornitza Stark Marked gene: PROSER1 as ready
Mendeliome v1.7 PROSER1 Zornitza Stark Gene: proser1 has been classified as Red List (Low Evidence).
Mendeliome v1.7 PROSER1 Zornitza Stark gene: PROSER1 was added
gene: PROSER1 was added to Mendeliome. Sources: Expert Review
founder tags were added to gene: PROSER1.
Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROSER1 were set to 35229282
Phenotypes for gene: PROSER1 were set to Syndromic disease MONDO:0002254, PROSER1-related
Review for gene: PROSER1 was set to RED
Added comment: 4 children from 3 related families with developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, genitourinary malformations, and common facial features (arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing). WES revealed a homozygous frame-shift variant (p.Thr612Glnfs*22) in PROSER1. This encodes the proline and serine rich protein 1, part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation. No functional assays and 3 related families, likely founder effect.
Sources: Expert Review
Intellectual disability syndromic and non-syndromic v0.4795 PROSER1 Zornitza Stark Phenotypes for gene: PROSER1 were changed from Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM # to Syndromic disease MONDO:0002254, PROSER1-related; Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #
Intellectual disability syndromic and non-syndromic v0.4794 PROSER1 Zornitza Stark Marked gene: PROSER1 as ready
Intellectual disability syndromic and non-syndromic v0.4794 PROSER1 Zornitza Stark Gene: proser1 has been classified as Red List (Low Evidence).
Intellectual disability syndromic and non-syndromic v0.4794 PROSER1 Zornitza Stark Tag founder tag was added to gene: PROSER1.
Mendeliome v1.6 SPATA22 Zornitza Stark Marked gene: SPATA22 as ready
Mendeliome v1.6 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.6 SPATA22 Zornitza Stark Classified gene: SPATA22 as Amber List (moderate evidence)
Mendeliome v1.6 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.5 SPATA22 Zornitza Stark gene: SPATA22 was added
gene: SPATA22 was added to Mendeliome. Sources: Expert Review
Mode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA22 were set to 35285020
Phenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143
Review for gene: SPATA22 was set to AMBER
Added comment: 1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA. 2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X).
Sources: Expert Review
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Marked gene: SPATA22 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Gene: spata22 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.301 SPATA22 Zornitza Stark Phenotypes for gene: SPATA22 were changed from Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM # to Premature ovarian insufficiency and nonobstructive azoospermia; Genetic infertility MONDO:0017143
Polymicrogyria and Schizencephaly v0.175 COL3A1 Krithika Murali gene: COL3A1 was added
gene: COL3A1 was added to Polymicrogyria and Schizencephaly. Sources: Literature
Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COL3A1 were set to 28742248; 19455184; 25205403
Phenotypes for gene: COL3A1 were set to Polymicrogyria with or without vascular-type ehlers-danlos syndrome, MIM # 618343; Ehlers-Danlos syndrome, vascular type, MIM# 130050
Review for gene: COL3A1 was set to GREEN
Added comment: Well established phenotype with polymicrogyria with biallelic variants in COL3A1, at least 6 individuals from 5 unrelated families are described.
Sources: Literature
Mendeliome v1.4 RDH11 Zornitza Stark Classified gene: RDH11 as Amber List (moderate evidence)
Mendeliome v1.4 RDH11 Zornitza Stark Gene: rdh11 has been classified as Amber List (Moderate Evidence).
Mendeliome v1.3 RDH11 Zornitza Stark edited their review of gene: RDH11: Added comment: 2nd case reported: 1 Chinese patient with retinitis pigmentosa, juvenile cataracts, intellectual disability, and myopathy. Trio-based WES and whole genomic CNV detection found compound heterozygous variants in RDH11 (p.Leu313Pro and c.75-3C>A) with biparental inheritance. Variant c.75-3C>A was confirmed to be a splice-site mutation by cDNA sequencing. It caused exon 2 skipping, resulting in a frameshift mutation and premature translation termination (p.Lys26Serfs*38). They found mislocalization of RDH11 protein in muscle cells of the patient by using immunofluorescence staining. Retinol dehydrogenase 11 (RDH11) is an 11-cis-retinol dehydrogenase that has a well-characterized, albeit auxiliary role in the retinoid cycle. Diseases caused by mutations in the RDH11 gene are very rare, and only one affected family with eye and intelligence involvement has been reported.; Changed rating: AMBER; Changed publications: 24916380, 15634683, 30731079, 18326732, 34988992
Syndromic Retinopathy v0.196 RDH11 Zornitza Stark Publications for gene: RDH11 were set to 24916380; 15634683; 30731079; 18326732
Fetal anomalies v1.31 USP14 Zornitza Stark Marked gene: USP14 as ready
Fetal anomalies v1.31 USP14 Zornitza Stark Gene: usp14 has been classified as Red List (Low Evidence).
Fetal anomalies v1.31 USP14 Zornitza Stark Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
Arthrogryposis v0.343 USP14 Zornitza Stark Marked gene: USP14 as ready
Arthrogryposis v0.343 USP14 Zornitza Stark Gene: usp14 has been classified as Red List (Low Evidence).
Arthrogryposis v0.343 USP14 Zornitza Stark Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features
Callosome v0.448 USP14 Zornitza Stark Marked gene: USP14 as ready
Callosome v0.448 USP14 Zornitza Stark Gene: usp14 has been classified as Red List (Low Evidence).
Callosome v0.448 USP14 Zornitza Stark Phenotypes for gene: USP14 were changed from Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM # to Syndromic disease MONDO:0002254, USP14-related; Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Mendeliome v1.3 ETV2 Ain Roesley changed review comment from: 1 family with 4 fetus-es, cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature; to: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4794 PCDHGC4 Zornitza Stark Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Intellectual disability syndromic and non-syndromic v0.4793 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Mendeliome v1.3 PCDHGC4 Zornitza Stark Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Growth failure v1.41 PCDHGC4 Zornitza Stark Marked gene: PCDHGC4 as ready
Growth failure v1.41 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Growth failure v1.41 PCDHGC4 Zornitza Stark Classified gene: PCDHGC4 as Green List (high evidence)
Growth failure v1.41 PCDHGC4 Zornitza Stark Gene: pcdhgc4 has been classified as Green List (High Evidence).
Growth failure v1.40 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed rating: GREEN
Genetic Epilepsy v0.1608 PCDHGC4 Zornitza Stark Phenotypes for gene: PCDHGC4 were changed from Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880 to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Growth failure v1.40 PCDHGC4 Zornitza Stark gene: PCDHGC4 was added
gene: PCDHGC4 was added to Growth failure. Sources: Expert Review
Mode of inheritance for gene: PCDHGC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDHGC4 were set to 34244665
Phenotypes for gene: PCDHGC4 were set to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Added comment: Eight variants reported in 19 members of nine unreleted families with a neurodevelopmental syndrome. Severe or moderate intellectual disabilty in eight families and seizures in four families. Four of the variants were LoF, in silico analysis of the remaining missense (n=3) and splice variants were predicted to be pathogenic.

Poor growth was a key feature.
Sources: Expert Review
Genetic Epilepsy v0.1607 PCDHGC4 Zornitza Stark Phenotypes for gene: PCDHGC4 were changed from Intellectual disability; Seizures to Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Genetic Epilepsy v0.1606 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Mendeliome v1.2 PCDHGC4 Zornitza Stark edited their review of gene: PCDHGC4: Changed phenotypes: Neurodevelopmental disorder with poor growth and skeletal anomalies, MIM# 619880
Fetal anomalies v1.30 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Fetal anomalies v1.29 ZNF526 Zornitza Stark reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dystonia - complex v0.213 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Dystonia - complex v0.212 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Intellectual disability syndromic and non-syndromic v0.4793 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Intellectual disability syndromic and non-syndromic v0.4792 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Genetic Epilepsy v0.1606 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Genetic Epilepsy v0.1605 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Microcephaly v1.124 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Microcephaly v1.123 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Mendeliome v1.2 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Cataract v0.341 ZNF526 Zornitza Stark Phenotypes for gene: ZNF526 were changed from Intellectual disability; Microcephaly; Cataracts; Epilepsy; Hypertonia; Dystonia to Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Cataract v0.340 ZNF526 Zornitza Stark edited their review of gene: ZNF526: Changed phenotypes: Dentici-Novelli neurodevelopmental syndrome, MIM# 619877
Susceptibility to Viral Infections v0.83 POLR3F Zornitza Stark Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Susceptibility to Viral Infections v0.82 POLR3F Zornitza Stark edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Mendeliome v1.1 POLR3F Zornitza Stark Phenotypes for gene: POLR3F were changed from Severe VZV infection to Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Mendeliome v1.0 POLR3F Zornitza Stark edited their review of gene: POLR3F: Changed phenotypes: Immunodeficiency 101 (varicella zoster virus-specific), MIM# 619872
Vasculitis v0.71 DNASE1 Zornitza Stark Marked gene: DNASE1 as ready
Vasculitis v0.71 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Vasculitis v0.71 DNASE1 Zornitza Stark Phenotypes for gene: DNASE1 were changed from to {Systemic lupus erythematosus, susceptibility to} - MIM#152700
Vasculitis v0.70 DNASE1 Zornitza Stark Mode of inheritance for gene: DNASE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v1.0 Zornitza Stark promoted panel to version 1.0
Mendeliome v0.14798 GLRX3 Zornitza Stark Marked gene: GLRX3 as ready
Mendeliome v0.14798 GLRX3 Zornitza Stark Gene: glrx3 has been classified as Red List (Low Evidence).
Mendeliome v0.14798 GLRX3 Zornitza Stark Publications for gene: GLRX3 were set to
Mendeliome v0.14797 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Mendeliome v0.14797 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Mendeliome v0.14797 DNM1L Zornitza Stark Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR); Optic atrophy 5 - MIM#610708 (AD)
Mendeliome v0.14796 DNM1L Zornitza Stark Mode of inheritance for gene: DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Marked gene: DNASE1L3 as ready
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Gene: dnase1l3 has been classified as Green List (High Evidence).
Mendeliome v0.14795 DNASE1L3 Zornitza Stark Phenotypes for gene: DNASE1L3 were changed from to Systemic lupus erythematosus 16 - MIM#614420
Vasculitis v0.69 DNASE1 Zornitza Stark Classified gene: DNASE1 as Red List (low evidence)
Vasculitis v0.69 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Vasculitis v0.68 DNASE1 Zornitza Stark reviewed gene: DNASE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Systemic lupus erythematosus, susceptibility to} - MIM#152700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14794 DNASE1 Zornitza Stark Marked gene: DNASE1 as ready
Mendeliome v0.14794 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Mendeliome v0.14794 DNASE1L3 Zornitza Stark Publications for gene: DNASE1L3 were set to
Mendeliome v0.14793 DNASE1L3 Zornitza Stark Mode of inheritance for gene: DNASE1L3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14792 DNASE1 Zornitza Stark Phenotypes for gene: DNASE1 were changed from to {Systemic lupus erythematosus, susceptibility to} - MIM#152700
Mendeliome v0.14791 DNAJC6 Zornitza Stark Marked gene: DNAJC6 as ready
Mendeliome v0.14791 DNAJC6 Zornitza Stark Gene: dnajc6 has been classified as Green List (High Evidence).
Mendeliome v0.14791 DNAJC6 Zornitza Stark Phenotypes for gene: DNAJC6 were changed from to Parkinson disease 19a, juvenile-onset - MIM#615528; Parkinson disease 19b, early-onset - MIM#615528
Mendeliome v0.14790 DNASE1 Zornitza Stark Mode of inheritance for gene: DNASE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14789 DNAJC6 Zornitza Stark Publications for gene: DNAJC6 were set to
Mendeliome v0.14788 DNASE1 Zornitza Stark Classified gene: DNASE1 as Red List (low evidence)
Mendeliome v0.14788 DNASE1 Zornitza Stark Gene: dnase1 has been classified as Red List (Low Evidence).
Mendeliome v0.14787 DNAJC6 Zornitza Stark Mode of inheritance for gene: DNAJC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14786 DNAJC5 Zornitza Stark Marked gene: DNAJC5 as ready
Mendeliome v0.14786 DNAJC5 Zornitza Stark Gene: dnajc5 has been classified as Green List (High Evidence).
Mendeliome v0.14786 DNAJC5 Zornitza Stark Phenotypes for gene: DNAJC5 were changed from to Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350; ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083
Mendeliome v0.14785 DNAJC5 Zornitza Stark Publications for gene: DNAJC5 were set to
Mendeliome v0.14784 DNAJC3 Zornitza Stark Marked gene: DNAJC3 as ready
Mendeliome v0.14784 DNAJC3 Zornitza Stark Gene: dnajc3 has been classified as Green List (High Evidence).
Mendeliome v0.14784 DNAJC3 Zornitza Stark Phenotypes for gene: DNAJC3 were changed from to Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192
Mendeliome v0.14783 DNAJC5 Zornitza Stark Mode of inheritance for gene: DNAJC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14783 DNAJC3 Zornitza Stark Publications for gene: DNAJC3 were set to
Mendeliome v0.14782 DNAJC3 Zornitza Stark Mode of inheritance for gene: DNAJC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14781 DNAJC21 Zornitza Stark Marked gene: DNAJC21 as ready
Mendeliome v0.14781 DNAJC21 Zornitza Stark Gene: dnajc21 has been classified as Green List (High Evidence).
Mendeliome v0.14781 DNAJC21 Zornitza Stark Phenotypes for gene: DNAJC21 were changed from to Bone marrow failure syndrome 3 - MIM#617052
Mendeliome v0.14780 DNAJC21 Zornitza Stark Publications for gene: DNAJC21 were set to
Mendeliome v0.14779 DNM2 Zornitza Stark Marked gene: DNM2 as ready
Mendeliome v0.14779 DNM2 Zornitza Stark Gene: dnm2 has been classified as Green List (High Evidence).
Mendeliome v0.14779 DNM2 Zornitza Stark Phenotypes for gene: DNM2 were changed from to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674
Mendeliome v0.14778 DNM2 Zornitza Stark Publications for gene: DNM2 were set to
Mendeliome v0.14777 DNM2 Zornitza Stark Mode of inheritance for gene: DNM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14776 DNAJC21 Zornitza Stark Mode of inheritance for gene: DNAJC21 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14775 DPY19L2 Zornitza Stark Marked gene: DPY19L2 as ready
Mendeliome v0.14775 DPY19L2 Zornitza Stark Gene: dpy19l2 has been classified as Green List (High Evidence).
Mendeliome v0.14775 DPY19L2 Zornitza Stark Phenotypes for gene: DPY19L2 were changed from to Spermatogenic failure 9 - MIM#613958
Mendeliome v0.14774 AVPR2 Zornitza Stark Marked gene: AVPR2 as ready
Mendeliome v0.14774 AVPR2 Zornitza Stark Gene: avpr2 has been classified as Green List (High Evidence).
Mendeliome v0.14774 DPY19L2 Zornitza Stark Mode of inheritance for gene: DPY19L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14773 AVP Zornitza Stark Marked gene: AVP as ready
Mendeliome v0.14773 AVP Zornitza Stark Gene: avp has been classified as Green List (High Evidence).
Mendeliome v0.14773 AVP Zornitza Stark Phenotypes for gene: AVP were changed from to Diabetes insipidus, neurohypophyseal MIM#125700
Mendeliome v0.14772 DRAM2 Zornitza Stark Marked gene: DRAM2 as ready
Mendeliome v0.14772 DRAM2 Zornitza Stark Gene: dram2 has been classified as Green List (High Evidence).
Mendeliome v0.14772 DRAM2 Zornitza Stark Phenotypes for gene: DRAM2 were changed from to Cone-rod dystrophy 21 - MIM#616502
Mendeliome v0.14771 AVP Zornitza Stark Publications for gene: AVP were set to
Mendeliome v0.14770 DRAM2 Zornitza Stark Publications for gene: DRAM2 were set to
Mendeliome v0.14769 DRAM2 Zornitza Stark Mode of inheritance for gene: DRAM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14768 AVP Zornitza Stark Mode of inheritance for gene: AVP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14767 DRD2 Zornitza Stark Marked gene: DRD2 as ready
Mendeliome v0.14767 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Marked gene: ATP6V1E1 as ready
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Gene: atp6v1e1 has been classified as Green List (High Evidence).
Mendeliome v0.14767 ATP6V1E1 Zornitza Stark Phenotypes for gene: ATP6V1E1 were changed from to Cutis laxa, autosomal recessive, type IIC MIM#617402
Mendeliome v0.14766 ATP6V1E1 Zornitza Stark Publications for gene: ATP6V1E1 were set to
Mendeliome v0.14765 DRD2 Zornitza Stark Classified gene: DRD2 as Red List (low evidence)
Mendeliome v0.14765 DRD2 Zornitza Stark Gene: drd2 has been classified as Red List (Low Evidence).
Mendeliome v0.14764 DRD3 Zornitza Stark Marked gene: DRD3 as ready
Mendeliome v0.14764 DRD3 Zornitza Stark Gene: drd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14764 ATP6V1E1 Zornitza Stark Mode of inheritance for gene: ATP6V1E1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14763 DRD3 Zornitza Stark Phenotypes for gene: DRD3 were changed from to {Essential tremor, hereditary, 1} - MIM#190300; {Schizophrenia, susceptibility to} - MIM#181500
Mendeliome v0.14762 DRD3 Zornitza Stark Mode of inheritance for gene: DRD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14761 DRD3 Zornitza Stark Classified gene: DRD3 as Red List (low evidence)
Mendeliome v0.14761 DRD3 Zornitza Stark Gene: drd3 has been classified as Red List (Low Evidence).
Mendeliome v0.14760 ATP2A1 Zornitza Stark Marked gene: ATP2A1 as ready
Mendeliome v0.14760 ATP2A1 Zornitza Stark Gene: atp2a1 has been classified as Green List (High Evidence).
Mendeliome v0.14760 ATP2A1 Zornitza Stark Phenotypes for gene: ATP2A1 were changed from to Brody myopathy, OMIM # 601003
Mendeliome v0.14759 ATP2A1 Zornitza Stark Publications for gene: ATP2A1 were set to
Mendeliome v0.14758 DSC3 Zornitza Stark Marked gene: DSC3 as ready
Mendeliome v0.14758 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14758 DSC3 Zornitza Stark Phenotypes for gene: DSC3 were changed from to Hypotrichosis and recurrent skin vesicles MIM#613102
Mendeliome v0.14757 ATP2A1 Zornitza Stark Mode of inheritance for gene: ATP2A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14756 DSC3 Zornitza Stark Publications for gene: DSC3 were set to
Mendeliome v0.14755 ADD1 Zornitza Stark Marked gene: ADD1 as ready
Mendeliome v0.14755 ADD1 Zornitza Stark Gene: add1 has been classified as Green List (High Evidence).
Mendeliome v0.14755 DSC3 Zornitza Stark Mode of inheritance for gene: DSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14755 ADD1 Zornitza Stark Phenotypes for gene: ADD1 were changed from Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM # to Neurodevelopmental disorder MONDO:0700092, ADD1-related
Mendeliome v0.14754 DSC3 Zornitza Stark Classified gene: DSC3 as Amber List (moderate evidence)
Mendeliome v0.14754 DSC3 Zornitza Stark Gene: dsc3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14753 DSCAM Zornitza Stark Marked gene: DSCAM as ready
Mendeliome v0.14753 DSCAM Zornitza Stark Gene: dscam has been classified as Green List (High Evidence).
Mendeliome v0.14753 DSCAM Zornitza Stark Phenotypes for gene: DSCAM were changed from to Autism MONDO:0005260
Mendeliome v0.14752 DSCAM Zornitza Stark Publications for gene: DSCAM were set to
Mendeliome v0.14751 DSCAM Zornitza Stark Classified gene: DSCAM as Green List (high evidence)
Mendeliome v0.14751 DSCAM Zornitza Stark Gene: dscam has been classified as Green List (High Evidence).
Mendeliome v0.14750 DSCAM Zornitza Stark Mode of inheritance for gene: DSCAM was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14749 DSCAM Zornitza Stark Classified gene: DSCAM as Amber List (moderate evidence)
Mendeliome v0.14749 DSCAM Zornitza Stark Gene: dscam has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14748 DSE Zornitza Stark Marked gene: DSE as ready
Mendeliome v0.14748 DSE Zornitza Stark Gene: dse has been classified as Green List (High Evidence).
Mendeliome v0.14748 DSE Zornitza Stark Phenotypes for gene: DSE were changed from to Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539
Mendeliome v0.14747 DSE Zornitza Stark Publications for gene: DSE were set to
Mendeliome v0.14746 DSE Zornitza Stark Mode of inheritance for gene: DSE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14745 DSG4 Zornitza Stark Marked gene: DSG4 as ready
Mendeliome v0.14745 DSG4 Zornitza Stark Gene: dsg4 has been classified as Green List (High Evidence).
Mendeliome v0.14745 DSG4 Zornitza Stark Phenotypes for gene: DSG4 were changed from to Hypotrichosis 6 - MIM#607903
Mendeliome v0.14744 DSG4 Zornitza Stark Publications for gene: DSG4 were set to
Mendeliome v0.14743 DSG4 Zornitza Stark Mode of inheritance for gene: DSG4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14742 DSPP Zornitza Stark Marked gene: DSPP as ready
Mendeliome v0.14742 DSPP Zornitza Stark Gene: dspp has been classified as Green List (High Evidence).
Mendeliome v0.14742 DSPP Zornitza Stark Phenotypes for gene: DSPP were changed from to Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594; Dentin dysplasia, type II - MIM#125420; Dentinogenesis imperfecta, Shields type II - MIM#125490; Dentinogenesis imperfecta, Shields type III - MIM#125500
Mendeliome v0.14741 DSPP Zornitza Stark Mode of inheritance for gene: DSPP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14740 DUOX2 Zornitza Stark Marked gene: DUOX2 as ready
Mendeliome v0.14740 DUOX2 Zornitza Stark Gene: duox2 has been classified as Green List (High Evidence).
Mendeliome v0.14740 DUOX2 Zornitza Stark Phenotypes for gene: DUOX2 were changed from to Thyroid dyshormonogenesis 6 - MIM#607200
Mendeliome v0.14739 DUOX2 Zornitza Stark Mode of inheritance for gene: DUOX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14738 GDNF Elena Savva Marked gene: GDNF as ready
Mendeliome v0.14738 GDNF Elena Savva Gene: gdnf has been classified as Red List (Low Evidence).
Mendeliome v0.14738 DUOXA2 Zornitza Stark Marked gene: DUOXA2 as ready
Mendeliome v0.14738 DUOXA2 Zornitza Stark Gene: duoxa2 has been classified as Green List (High Evidence).
Mendeliome v0.14738 DUOXA2 Zornitza Stark Phenotypes for gene: DUOXA2 were changed from to Thyroid dyshormonogenesis 5 - MIM#274900
Mendeliome v0.14737 DUOXA2 Zornitza Stark Mode of inheritance for gene: DUOXA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14736 ENPP1 Zornitza Stark Marked gene: ENPP1 as ready
Mendeliome v0.14736 ENPP1 Zornitza Stark Gene: enpp1 has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPOR Zornitza Stark Marked gene: EPOR as ready
Mendeliome v0.14736 EPOR Zornitza Stark Gene: epor has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPRS Zornitza Stark Marked gene: EPRS as ready
Mendeliome v0.14736 EPRS Zornitza Stark Gene: eprs has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPS8 Zornitza Stark Marked gene: EPS8 as ready
Mendeliome v0.14736 EPS8 Zornitza Stark Gene: eps8 has been classified as Green List (High Evidence).
Mendeliome v0.14736 EPS8 Zornitza Stark Phenotypes for gene: EPS8 were changed from to Autosomal recessive nonsyndromic hearing loss 102 MONDO:0014428
Mendeliome v0.14735 EPS8 Zornitza Stark Publications for gene: EPS8 were set to
Mendeliome v0.14734 EPS8 Zornitza Stark Mode of inheritance for gene: EPS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14733 ETFB Zornitza Stark Marked gene: ETFB as ready
Mendeliome v0.14733 ETFB Zornitza Stark Gene: etfb has been classified as Green List (High Evidence).
Mendeliome v0.14733 ETFB Zornitza Stark Phenotypes for gene: ETFB were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Mendeliome v0.14732 EXT1 Zornitza Stark Marked gene: EXT1 as ready
Mendeliome v0.14732 EXT1 Zornitza Stark Gene: ext1 has been classified as Green List (High Evidence).
Mendeliome v0.14732 EXT1 Zornitza Stark Phenotypes for gene: EXT1 were changed from to hereditary multiple osteochondromas MONDO:0005508; exostoses, multiple, type 1 MONDO:0007585
Mendeliome v0.14731 EYA4 Zornitza Stark Marked gene: EYA4 as ready
Mendeliome v0.14731 EYA4 Zornitza Stark Gene: eya4 has been classified as Green List (High Evidence).
Mendeliome v0.14731 EYS Zornitza Stark Marked gene: EYS as ready
Mendeliome v0.14731 EYS Zornitza Stark Gene: eys has been classified as Green List (High Evidence).
Mendeliome v0.14731 EYS Zornitza Stark Phenotypes for gene: EYS were changed from to Retinitis pigmentosa 25 MONDO:0011272
Mendeliome v0.14730 EYS Zornitza Stark Publications for gene: EYS were set to
Mendeliome v0.14729 EYS Zornitza Stark Mode of inheritance for gene: EYS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14728 FXR1 Zornitza Stark Marked gene: FXR1 as ready
Mendeliome v0.14728 FXR1 Zornitza Stark Gene: fxr1 has been classified as Green List (High Evidence).
Mendeliome v0.14728 ETV2 Ain Roesley Marked gene: ETV2 as ready
Mendeliome v0.14728 ETV2 Ain Roesley Gene: etv2 has been classified as Red List (Low Evidence).
Mendeliome v0.14728 ETV2 Ain Roesley gene: ETV2 was added
gene: ETV2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ETV2 were set to 33359164
Phenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations
Review for gene: ETV2 was set to RED
gene: ETV2 was marked as current diagnostic
Added comment: 1 family with 4 fetus-es, cHet for a fs (NMD-predicted) and a missense

3/4 vertebral malformations
2/4 Tetralogy of Fallot
1/4 arterial septal defect
1/4 ventricular septal defect, aortic dilatation
1/4 pre-axial polydactyly
Sources: Literature
Mendeliome v0.14727 GABRB2 Zornitza Stark Marked gene: GABRB2 as ready
Mendeliome v0.14727 GABRB2 Zornitza Stark Gene: gabrb2 has been classified as Green List (High Evidence).
Mendeliome v0.14727 GABRB2 Zornitza Stark Publications for gene: GABRB2 were set to
Mendeliome v0.14726 GALNT2 Zornitza Stark Marked gene: GALNT2 as ready
Mendeliome v0.14726 GALNT2 Zornitza Stark Gene: galnt2 has been classified as Green List (High Evidence).
Mendeliome v0.14726 GALNT2 Zornitza Stark Phenotypes for gene: GALNT2 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation MONDO:0015286
Mendeliome v0.14725 GALNT3 Zornitza Stark Marked gene: GALNT3 as ready
Mendeliome v0.14725 GALNT3 Zornitza Stark Gene: galnt3 has been classified as Green List (High Evidence).
Mendeliome v0.14725 GALNT3 Zornitza Stark Phenotypes for gene: GALNT3 were changed from to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900
Mendeliome v0.14724 GALNT3 Zornitza Stark Publications for gene: GALNT3 were set to
Mendeliome v0.14723 GALNT3 Zornitza Stark Mode of inheritance for gene: GALNT3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14722 GALT Zornitza Stark Marked gene: GALT as ready
Mendeliome v0.14722 GALT Zornitza Stark Gene: galt has been classified as Green List (High Evidence).
Mendeliome v0.14722 GALT Zornitza Stark Phenotypes for gene: GALT were changed from to Galactosaemia MIM#230400; Disorders of galactose metabolism
Mendeliome v0.14721 GALT Zornitza Stark Publications for gene: GALT were set to
Mendeliome v0.14720 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14719 GAMT Zornitza Stark Marked gene: GAMT as ready
Mendeliome v0.14719 GAMT Zornitza Stark Gene: gamt has been classified as Green List (High Evidence).
Mendeliome v0.14719 GAMT Zornitza Stark Phenotypes for gene: GAMT were changed from to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Mendeliome v0.14718 GAMT Zornitza Stark Publications for gene: GAMT were set to
Mendeliome v0.14717 GAMT Zornitza Stark Mode of inheritance for gene: GAMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14716 GAN Zornitza Stark Marked gene: GAN as ready
Mendeliome v0.14716 GAN Zornitza Stark Gene: gan has been classified as Green List (High Evidence).
Mendeliome v0.14716 GAN Zornitza Stark Phenotypes for gene: GAN were changed from to Giant axonal neuropathy-1, MIM# 256850
Mendeliome v0.14715 GAN Zornitza Stark Publications for gene: GAN were set to
Mendeliome v0.14714 GAN Zornitza Stark Mode of inheritance for gene: GAN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14713 GBA2 Zornitza Stark Marked gene: GBA2 as ready
Mendeliome v0.14713 GBA2 Zornitza Stark Gene: gba2 has been classified as Green List (High Evidence).
Mendeliome v0.14713 GBA2 Zornitza Stark Phenotypes for gene: GBA2 were changed from to Spastic paraplegia 46, autosomal recessive, MIM# 614409; MONDO:0013737
Mendeliome v0.14712 GBA2 Zornitza Stark Publications for gene: GBA2 were set to
Mendeliome v0.14711 GBA2 Zornitza Stark Mode of inheritance for gene: GBA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14710 GCDH Zornitza Stark Marked gene: GCDH as ready
Mendeliome v0.14710 GCDH Zornitza Stark Gene: gcdh has been classified as Green List (High Evidence).
Mendeliome v0.14710 GCDH Zornitza Stark Phenotypes for gene: GCDH were changed from to Glutaric aciduria, type I MIM#231670; Organic acidurias
Mendeliome v0.14709 GCDH Zornitza Stark Publications for gene: GCDH were set to
Mendeliome v0.14708 GCDH Zornitza Stark Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14707 GCH1 Zornitza Stark Marked gene: GCH1 as ready
Mendeliome v0.14707 GCH1 Zornitza Stark Gene: gch1 has been classified as Green List (High Evidence).
Mendeliome v0.14707 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from to Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230
Mendeliome v0.14706 GCH1 Zornitza Stark Publications for gene: GCH1 were set to
Mendeliome v0.14705 GCH1 Zornitza Stark Mode of inheritance for gene: GCH1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14704 GCK Zornitza Stark Marked gene: GCK as ready
Mendeliome v0.14704 GCK Zornitza Stark Gene: gck has been classified as Green List (High Evidence).
Mendeliome v0.14704 GCK Zornitza Stark Phenotypes for gene: GCK were changed from to Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851)
Mendeliome v0.14703 GCK Zornitza Stark Publications for gene: GCK were set to
Mendeliome v0.14702 GCK Zornitza Stark Mode of inheritance for gene: GCK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14701 GCNT2 Zornitza Stark Marked gene: GCNT2 as ready
Mendeliome v0.14701 GCNT2 Zornitza Stark Gene: gcnt2 has been classified as Green List (High Evidence).
Mendeliome v0.14701 GDNF Elena Savva Phenotypes for gene: GDNF were changed from to {Hirschsprung disease, susceptibility to, 3} MIM#613711
Mendeliome v0.14700 GCNT2 Zornitza Stark Phenotypes for gene: GCNT2 were changed from to Cataract 13 with adult i phenotype, OMIM # 116700
Mendeliome v0.14700 GDNF Elena Savva Publications for gene: GDNF were set to
Mendeliome v0.14700 GDNF Elena Savva Mode of inheritance for gene: GDNF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14699 GCNT2 Zornitza Stark Publications for gene: GCNT2 were set to
Mendeliome v0.14698 GCNT2 Zornitza Stark Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14697 GDAP1 Zornitza Stark Marked gene: GDAP1 as ready
Mendeliome v0.14697 GDAP1 Zornitza Stark Gene: gdap1 has been classified as Green List (High Evidence).
Mendeliome v0.14697 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706; Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340; Charcot-Marie-Tooth disease, type 4A, MIM# 214400
Mendeliome v0.14696 ATPAF2 Elena Savva Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14695 GATAD1 Elena Savva Phenotypes for gene: GATAD1 were changed from to ?Cardiomyopathy, dilated, 2B MIM#614672
Mendeliome v0.14694 GATAD1 Elena Savva Marked gene: GATAD1 as ready
Mendeliome v0.14694 GATAD1 Elena Savva Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14694 GATAD1 Elena Savva Publications for gene: GATAD1 were set to
Mendeliome v0.14694 GATAD1 Elena Savva Mode of inheritance for gene: GATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14693 FBXW4 Elena Savva Marked gene: FBXW4 as ready
Mendeliome v0.14693 FBXW4 Elena Savva Gene: fbxw4 has been classified as Red List (Low Evidence).
Mendeliome v0.14693 AURKC Elena Savva Phenotypes for gene: AURKC were changed from to Spermatogenic failure 5 MIM #243060
Mendeliome v0.14692 AURKC Elena Savva Marked gene: AURKC as ready
Mendeliome v0.14692 AURKC Elena Savva Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14692 AURKC Elena Savva Mode of inheritance for gene: AURKC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14691 ATPAF2 Elena Savva Marked gene: ATPAF2 as ready
Mendeliome v0.14691 ATPAF2 Elena Savva Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14691 ATP2C2 Elena Savva Marked gene: ATP2C2 as ready
Mendeliome v0.14691 ATP2C2 Elena Savva Gene: atp2c2 has been classified as Red List (Low Evidence).
Mendeliome v0.14691 AHSG Elena Savva Marked gene: AHSG as ready
Mendeliome v0.14691 AHSG Elena Savva Gene: ahsg has been classified as Red List (Low Evidence).
Mendeliome v0.14691 GDAP1 Zornitza Stark Publications for gene: GDAP1 were set to
Mendeliome v0.14690 GDAP1 Zornitza Stark Mode of inheritance for gene: GDAP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14689 GDF2 Zornitza Stark Marked gene: GDF2 as ready
Mendeliome v0.14689 GDF2 Zornitza Stark Gene: gdf2 has been classified as Green List (High Evidence).
Mendeliome v0.14689 GDF2 Zornitza Stark Phenotypes for gene: GDF2 were changed from to Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506; pulmonary arteriovenous malformations
Mendeliome v0.14688 GDF2 Zornitza Stark Publications for gene: GDF2 were set to
Mendeliome v0.14687 GDF2 Zornitza Stark Mode of inheritance for gene: GDF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14686 GDF9 Zornitza Stark Marked gene: GDF9 as ready
Mendeliome v0.14686 GDF9 Zornitza Stark Gene: gdf9 has been classified as Green List (High Evidence).
Mendeliome v0.14686 GDF9 Zornitza Stark Phenotypes for gene: GDF9 were changed from to Premature ovarian failure 14, OMIM# 618014
Mendeliome v0.14685 GDF9 Zornitza Stark Publications for gene: GDF9 were set to
Mendeliome v0.14684 GDF9 Zornitza Stark Mode of inheritance for gene: GDF9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14683 GEMIN4 Zornitza Stark Marked gene: GEMIN4 as ready
Mendeliome v0.14683 GEMIN4 Zornitza Stark Gene: gemin4 has been classified as Green List (High Evidence).
Mendeliome v0.14683 GEMIN4 Zornitza Stark Phenotypes for gene: GEMIN4 were changed from to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913
Mendeliome v0.14682 GEMIN4 Zornitza Stark Publications for gene: GEMIN4 were set to
Mendeliome v0.14681 GEMIN4 Zornitza Stark Mode of inheritance for gene: GEMIN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14680 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Mendeliome v0.14680 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Mendeliome v0.14680 GFM2 Zornitza Stark Phenotypes for gene: GFM2 were changed from to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Mendeliome v0.14679 GFM2 Zornitza Stark Publications for gene: GFM2 were set to
Mendeliome v0.14678 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14677 GIF Zornitza Stark Marked gene: GIF as ready
Mendeliome v0.14677 GIF Zornitza Stark Gene: gif has been classified as Green List (High Evidence).
Mendeliome v0.14677 GIF Zornitza Stark Phenotypes for gene: GIF were changed from to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.14676 GIF Zornitza Stark Publications for gene: GIF were set to
Mendeliome v0.14675 GIF Zornitza Stark Mode of inheritance for gene: GIF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14674 KATNB1 Elena Savva reviewed gene: KATNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25521378, 25521379, 26640080; Phenotypes: Lissencephaly 6, with microcephaly MIM#616212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14674 PRKAG3 Elena Savva Phenotypes for gene: PRKAG3 were changed from increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030 to increased glycogen content in skeletal muscle
Mendeliome v0.14673 TIA1 Elena Savva Publications for gene: TIA1 were set to
Mendeliome v0.14672 SLC26A1 Elena Savva Marked gene: SLC26A1 as ready
Mendeliome v0.14672 SLC26A1 Elena Savva Gene: slc26a1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14672 TIA1 Elena Savva Phenotypes for gene: TIA1 were changed from Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454) to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)
Mendeliome v0.14671 PRKAG3 Elena Savva Phenotypes for gene: PRKAG3 were changed from to increased glycogen content in skeletal muscle; [Skeletal muscle glycogen content and metabolism QTL] MIM#619030
Mendeliome v0.14670 PRKAG3 Elena Savva Marked gene: PRKAG3 as ready
Mendeliome v0.14670 PRKAG3 Elena Savva Gene: prkag3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14670 GINS1 Zornitza Stark Marked gene: GINS1 as ready
Mendeliome v0.14670 GINS1 Zornitza Stark Gene: gins1 has been classified as Green List (High Evidence).
Mendeliome v0.14670 GINS1 Zornitza Stark Publications for gene: GINS1 were set to
Mendeliome v0.14669 PRKAG3 Elena Savva Publications for gene: PRKAG3 were set to
Mendeliome v0.14668 PRKAG3 Elena Savva Mode of inheritance for gene: PRKAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14667 U2AF2 Elena Savva Marked gene: U2AF2 as ready
Mendeliome v0.14667 U2AF2 Elena Savva Gene: u2af2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14667 TDP1 Elena Savva Marked gene: TDP1 as ready
Mendeliome v0.14667 TDP1 Elena Savva Gene: tdp1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14667 TIA1 Elena Savva Phenotypes for gene: TIA1 were changed from to Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia, MIM# 619133; Welander distal myopathy (MIM#604454)
Mendeliome v0.14666 TIA1 Elena Savva Marked gene: TIA1 as ready
Mendeliome v0.14666 TIA1 Elena Savva Gene: tia1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 PLD3 Elena Savva Marked gene: PLD3 as ready
Mendeliome v0.14666 PLD3 Elena Savva Gene: pld3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 RBM7 Elena Savva Marked gene: RBM7 as ready
Mendeliome v0.14666 RBM7 Elena Savva Gene: rbm7 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 MFAP5 Elena Savva Marked gene: MFAP5 as ready
Mendeliome v0.14666 MFAP5 Elena Savva Gene: mfap5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 MMGT1 Elena Savva Marked gene: MMGT1 as ready
Mendeliome v0.14666 MMGT1 Elena Savva Gene: mmgt1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 FRA12A Elena Savva Marked STR: FRA12A as ready
Mendeliome v0.14666 FRA12A Elena Savva Str: fra12a has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 GIGYF2 Elena Savva Marked gene: GIGYF2 as ready
Mendeliome v0.14666 GIGYF2 Elena Savva Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14666 FRA12A Elena Savva Phenotypes for STR: FRA12A were changed from Mental retardation, FRA12A type MIM#136630 to Intellectual developmental disorder, autosomal dominant, FRA12A type MIM#136630
Mendeliome v0.14665 MEPE Elena Savva Marked gene: MEPE as ready
Mendeliome v0.14665 MEPE Elena Savva Gene: mepe has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14665 LRIF1 Elena Savva Marked gene: LRIF1 as ready
Mendeliome v0.14665 LRIF1 Elena Savva Gene: lrif1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14665 GIGYF2 Elena Savva Phenotypes for gene: GIGYF2 were changed from to {Parkinson disease 11} MIM#607688
Mendeliome v0.14664 GIGYF2 Elena Savva Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14663 DMGDH Elena Savva Marked gene: DMGDH as ready
Mendeliome v0.14663 DMGDH Elena Savva Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14663 DMGDH Elena Savva Phenotypes for gene: DMGDH were changed from to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics
Mendeliome v0.14663 DMGDH Elena Savva Publications for gene: DMGDH were set to
Mendeliome v0.14662 DCAF8 Elena Savva Marked gene: DCAF8 as ready
Mendeliome v0.14662 DCAF8 Elena Savva Gene: dcaf8 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 CCT5 Elena Savva Marked gene: CCT5 as ready
Mendeliome v0.14662 CCT5 Elena Savva Gene: cct5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 ATG5 Elena Savva Marked gene: ATG5 as ready
Mendeliome v0.14662 ATG5 Elena Savva Gene: atg5 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14662 LYZ Abhijit Kulkarni reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634 8464497 15745733; Phenotypes: Amyloidosis, renal (MIM: 105200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14662 USP8 Elena Savva Marked gene: USP8 as ready
Mendeliome v0.14662 USP8 Elena Savva Gene: usp8 has been classified as Green List (High Evidence).
Mendeliome v0.14662 LRP5 Krithika Murali reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Exudative vitreoretinopathy 4 - MIM#601813 (AD, AR), Hyperostosis, endosteal - MIM#144750 (AD), Osteopetrosis, autosomal dominant 1 - MIM#607634(AD), Osteoporosis-pseudoglioma syndrome - MIM#259770 (AR), Osteosclerosis - #144750 (AD), Polycystic liver disease 4 with or without kidney cysts - MIM#617875 (AD), van Buchem disease, type 2 - MIM#607636; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14662 MSX1 Elena Savva Phenotypes for gene: MSX1 were changed from Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia
Mendeliome v0.14661 MSX1 Elena Savva Publications for gene: MSX1 were set to 33419968, 33708320, 32192766
Mendeliome v0.14660 LRP6 Krithika Murali reviewed gene: LRP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26387593; Phenotypes: Tooth agenesis, selective, 7 - MIM#616724; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14660 LYRM7 Krithika Murali reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14660 LYST Krithika Murali reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome - MIM#214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14660 MSX1 Elena Savva Phenotypes for gene: MSX1 were changed from to Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia
Mendeliome v0.14659 MSX1 Elena Savva Publications for gene: MSX1 were set to
Mendeliome v0.14659 MSX1 Elena Savva Marked gene: MSX1 as ready
Mendeliome v0.14659 MSX1 Elena Savva Gene: msx1 has been classified as Green List (High Evidence).
Mendeliome v0.14659 MSX1 Elena Savva Mode of inheritance for gene: MSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14658 LYZ Krithika Murali reviewed gene: LYZ: Rating: GREEN; Mode of pathogenicity: None; Publications: 1808634, 8464497, 15745733,; Phenotypes: Amyloidosis, renal - MIM#105200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14658 GINS1 Zornitza Stark Mode of inheritance for gene: GINS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14657 GJA1 Zornitza Stark Marked gene: GJA1 as ready
Mendeliome v0.14657 GJA1 Zornitza Stark Gene: gja1 has been classified as Green List (High Evidence).
Mendeliome v0.14657 GJA1 Zornitza Stark Phenotypes for gene: GJA1 were changed from to Oculodentodigital dysplasia, autosomal recessive, MIM# 257850; Oculodentodigital dysplasia, MIM# 164200
Mendeliome v0.14656 GJA1 Zornitza Stark Publications for gene: GJA1 were set to
Mendeliome v0.14655 GJA1 Zornitza Stark Mode of inheritance for gene: GJA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14654 GJA5 Zornitza Stark Marked gene: GJA5 as ready
Mendeliome v0.14654 GJA5 Zornitza Stark Gene: gja5 has been classified as Green List (High Evidence).
Mendeliome v0.14654 GJA5 Zornitza Stark Phenotypes for gene: GJA5 were changed from to Atrial fibrillation, familial, 11, OMIM# 614049
Mendeliome v0.14653 GJA5 Zornitza Stark Publications for gene: GJA5 were set to
Mendeliome v0.14652 GJA5 Zornitza Stark Mode of inheritance for gene: GJA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.204 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.204 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.136 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.203 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.136 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.203 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.203 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Proteinuria v0.203 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Proteinuria v0.202 LRP2 Chirag Patel gene: LRP2 was added
gene: LRP2 was added to Proteinuria. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Sources: Expert list
Mendeliome v0.14651 LRP2 Chirag Patel commented on gene: LRP2: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Mendeliome v0.14651 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Classified gene: LRP2 as Green List (high evidence)
Deafness_IsolatedAndComplex v1.135 LRP2 Chirag Patel Gene: lrp2 has been classified as Green List (High Evidence).
Deafness_IsolatedAndComplex v1.134 LRP2 Chirag Patel gene: LRP2 was added
gene: LRP2 was added to Deafness_IsolatedAndComplex. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRP2 were set to PMID: 17632512
Phenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, MIM#222448
Review for gene: LRP2 was set to GREEN
Added comment: Donnai-Barrow syndrome (DBS) was first described as a distinct disorder characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, agenesis of the corpus callosum and proteinuria, and sensorineural deafness.

Kantarci et al. (2007) identified biallelic LRP2 mutations in 6 families with Donnai-Barrow syndrome and one family with facio-oculo-acoustico-renal syndrome.
Sources: Expert list
Anophthalmia_Microphthalmia_Coloboma v1.21 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.447 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4792 LRP2 Chirag Patel reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17632512; Phenotypes: Donnai-Barrow syndrome, MIM#222448; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 LINS1 Chirag Patel reviewed gene: LINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32802957, 34450347, 32499722, 31922598; Phenotypes: Intellectual developmental disorder, autosomal recessive 27, MIM# 614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 ATPAF2 Krithika Murali reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 - MIM#604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14651 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Mendeliome v0.14651 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Mendeliome v0.14650 ADD1 Chirag Patel gene: ADD1 was added
gene: ADD1 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to PMID: 34906466
Phenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Literature
Mendeliome v0.14649 AVP Chirag Patel reviewed gene: AVP: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 6526016, 1840604, 8554046; Phenotypes: Diabetes insipidus, neurohypophyseal MIM#125700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mendeliome v0.14649 AURKC Chirag Patel Classified gene: AURKC as Red List (low evidence)
Mendeliome v0.14649 AURKC Chirag Patel Gene: aurkc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14648 AURKC Chirag Patel reviewed gene: AURKC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14648 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mendeliome v0.14648 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14648 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mendeliome v0.14648 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14647 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.447 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Callosome v0.447 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.821 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Callosome v0.447 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Callosome v0.447 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Callosome v0.446 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.476 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Regression v0.476 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Regression v0.475 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cardiomyopathy_Paediatric v0.129 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Cardiomyopathy_Paediatric v0.129 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Cardiomyopathy_Paediatric v0.128 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 ATP6V1E1 Chirag Patel reviewed gene: ATP6V1E1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28065471, 27023906; Phenotypes: Cutis laxa, autosomal recessive, type IIC MIM#617402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 ATP2A1 Chirag Patel reviewed gene: ATP2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32040565; Phenotypes: Brody myopathy, OMIM # 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 GJA5 Chirag Patel commented on gene: GJA5: Gollob et al. (2006) presented evidence that tissue-specific mutations in the GJA5 gene may predispose the atria to fibrillation. They identified a heterozygous missense mutation in blood and cardiac tissue in patient with AF. They also found 3 heterozygous missense mutations in cardiac tissue only in 3 other patients, indicating a somatic source of the genetic defects

Yang et al. (2010) identified a heterozygous nonsense mutationin a 64-year-old female patient who was diagnosed with paroxysmal AF at 32 years of age. The mutation was detected in 6 additional affected family members, but was not found in 6 unaffected family members or in 200 ethnically matched controls.

Yang et al. (2010) identified 3 heterozygous missense mutations in 3 probands with AF. The mutations segregated with disease in all 3 families and were not found in 200 ethnically matched controls.

Sun et al. (2013) identified a heterozygous missense mutation in a 42-year-old woman who had been diagnosed with AF at age 40 years. The mutation was also detected in her father, who had been diagnosed with lone AF at 41 years of age, but it was not found in unaffected family members, in 200 controls, or in the dbSNP database. Functional analysis demonstrated that the I75F mutant is unable to form functional gap junction channels and also impairs coupling when expressed with wildtype CX40 or CX43.
Mendeliome v0.14647 GJA5 Chirag Patel reviewed gene: GJA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16790700, 20818502, 20650941, 23348765; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atrial Fibrillation v0.12 GJA5 Chirag Patel reviewed gene: GJA5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 16790700, 20818502, 20650941, 23348765; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.340 GEMIN4 Chirag Patel Classified gene: GEMIN4 as Green List (high evidence)
Cataract v0.340 GEMIN4 Chirag Patel Gene: gemin4 has been classified as Green List (High Evidence).
Mendeliome v0.14647 GEMIN4 Chirag Patel reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.339 GEMIN4 Chirag Patel reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4792 GEMIN4 Chirag Patel Classified gene: GEMIN4 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4792 GEMIN4 Chirag Patel Gene: gemin4 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4791 GEMIN4 Chirag Patel reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25558065, 30237576, 27878435; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, MIM# 617913; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14647 GJB2 Zornitza Stark Marked gene: GJB2 as ready
Mendeliome v0.14647 GJB2 Zornitza Stark Gene: gjb2 has been classified as Green List (High Evidence).
Mendeliome v0.14647 GJB2 Zornitza Stark Phenotypes for gene: GJB2 were changed from to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500
Mendeliome v0.14646 GJB2 Zornitza Stark Publications for gene: GJB2 were set to
Mendeliome v0.14645 GJB2 Zornitza Stark Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14644 GJB3 Zornitza Stark Marked gene: GJB3 as ready
Mendeliome v0.14644 GJB3 Zornitza Stark Gene: gjb3 has been classified as Green List (High Evidence).
Mendeliome v0.14644 GJB3 Zornitza Stark Phenotypes for gene: GJB3 were changed from to Erythrokeratodermia variabilis et progressiva 1, MIM# 133200
Mendeliome v0.14643 GJB3 Zornitza Stark Publications for gene: GJB3 were set to
Mendeliome v0.14642 GJB2 Chirag Patel reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004, 9529365, 14985372, 19941053, 11354642; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Palmoplantar Keratoderma and Erythrokeratoderma v0.120 GJB2 Chirag Patel reviewed gene: GJB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11179004; Phenotypes: Bart-Pumphrey syndrome, MIM#149200, Deafness, autosomal dominant 3A, MIM#601544, Deafness, autosomal recessive 1A, MIM#220290, Hystrix-like ichthyosis with deafness, MIM#602540, Keratitis-ichthyosis-deafness syndrome, MIM#148210, Keratoderma, palmoplantar, with deafness, MIM#148350, Vohwinkel syndrome, MIM# 124500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14642 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14641 GJB3 Zornitza Stark Mode of inheritance for gene: GJB3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB3 Zornitza Stark reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843209, 10594760, 10798362, 12019212; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, MIM# 133200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB3 Chirag Patel reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259, 9843210; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200, Deafness, autosomal dominant 2B, OMIM # 612644; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Palmoplantar Keratoderma and Erythrokeratoderma v0.120 GJB3 Chirag Patel reviewed gene: GJB3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 9843209, 10798362, 10594760, 17446259; Phenotypes: Erythrokeratodermia variabilis et progressiva 1, OMIM #133200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14640 GNB5 Chirag Patel reviewed gene: GNB5: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27523599, 27677260, 28697420, 29368331; Phenotypes: Intellectual developmental disorder with cardiac arrhythmia, OMIM #617173, Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, OMIM # 617182, Early infantile epileptic encephalopathy (EIEE); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14640 GJB4 Zornitza Stark Marked gene: GJB4 as ready
Mendeliome v0.14640 GJB4 Zornitza Stark Gene: gjb4 has been classified as Green List (High Evidence).
Mendeliome v0.14640 GJB4 Zornitza Stark Phenotypes for gene: GJB4 were changed from to Erythrokeratodermia variabilis et progressiva 2, MIM# 617524
Mendeliome v0.14639 GJB4 Zornitza Stark Publications for gene: GJB4 were set to
Mendeliome v0.14638 GJB4 Zornitza Stark Mode of inheritance for gene: GJB4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14637 GJB4 Zornitza Stark reviewed gene: GJB4: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017804, 12648223, 19291775; Phenotypes: Erythrokeratodermia variabilis et progressiva 2, MIM# 617524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14637 GJB6 Zornitza Stark Marked gene: GJB6 as ready
Mendeliome v0.14637 GJB6 Zornitza Stark Gene: gjb6 has been classified as Green List (High Evidence).
Mendeliome v0.14637 GJB6 Zornitza Stark Phenotypes for gene: GJB6 were changed from to Deafness, autosomal dominant 3B, MIM# 612643; Deafness, autosomal recessive 1B, MIM# 612645; Ectodermal dysplasia 2, Clouston type, MIM# 129500
Mendeliome v0.14636 GJB6 Zornitza Stark Publications for gene: GJB6 were set to
Mendeliome v0.14635 GJB6 Zornitza Stark Mode of inheritance for gene: GJB6 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14634 GJB6 Zornitza Stark Tag SV/CNV tag was added to gene: GJB6.
Mendeliome v0.14634 GJB6 Zornitza Stark reviewed gene: GJB6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11017065, 23219093, 11874494, 18717672, 27137747, 25808784, 19416251, 26620415, 17227867; Phenotypes: Deafness, autosomal dominant 3B, MIM# 612643, Deafness, autosomal recessive 1B, MIM# 612645, Ectodermal dysplasia 2, Clouston type, MIM# 129500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14634 GK Zornitza Stark Marked gene: GK as ready
Mendeliome v0.14634 GK Zornitza Stark Gene: gk has been classified as Green List (High Evidence).
Mendeliome v0.14634 GK Zornitza Stark Phenotypes for gene: GK were changed from to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism
Mendeliome v0.14633 GK Zornitza Stark Publications for gene: GK were set to
Mendeliome v0.14632 GK Zornitza Stark Mode of inheritance for gene: GK was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14631 GLCCI1 Zornitza Stark Marked gene: GLCCI1 as ready
Mendeliome v0.14631 GLCCI1 Zornitza Stark Gene: glcci1 has been classified as Red List (Low Evidence).
Mendeliome v0.14631 GLCCI1 Zornitza Stark Phenotypes for gene: GLCCI1 were changed from to {Glucocorticoid therapy, response to} 614400
Mendeliome v0.14630 GLCCI1 Zornitza Stark Mode of inheritance for gene: GLCCI1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14629 GLCCI1 Zornitza Stark Classified gene: GLCCI1 as Red List (low evidence)
Mendeliome v0.14629 GLCCI1 Zornitza Stark Gene: glcci1 has been classified as Red List (Low Evidence).
Mendeliome v0.14628 GLCCI1 Zornitza Stark reviewed gene: GLCCI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Glucocorticoid therapy, response to} 614400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14628 GLE1 Zornitza Stark Marked gene: GLE1 as ready
Mendeliome v0.14628 GLE1 Zornitza Stark Gene: gle1 has been classified as Green List (High Evidence).
Mendeliome v0.14628 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from to Lethal congenital contracture syndrome 1, MIM# 253310
Mendeliome v0.14627 GLE1 Zornitza Stark Publications for gene: GLE1 were set to
Mendeliome v0.14626 GLE1 Zornitza Stark Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14625 GLE1 Zornitza Stark Tag founder tag was added to gene: GLE1.
Mendeliome v0.14625 GLIS3 Zornitza Stark Marked gene: GLIS3 as ready
Mendeliome v0.14625 GLIS3 Zornitza Stark Gene: glis3 has been classified as Green List (High Evidence).
Mendeliome v0.14625 GLIS3 Zornitza Stark Phenotypes for gene: GLIS3 were changed from to Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199
Mendeliome v0.14624 GLIS3 Zornitza Stark Publications for gene: GLIS3 were set to
Mendeliome v0.14623 GLIS3 Zornitza Stark Mode of inheritance for gene: GLIS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14622 GLIS3 Zornitza Stark reviewed gene: GLIS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21139041, 35410112, 35394098, 34093443; Phenotypes: Diabetes mellitus, neonatal, with congenital hypothyroidism, MIM#610199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14622 GLUL Zornitza Stark Marked gene: GLUL as ready
Mendeliome v0.14622 GLUL Zornitza Stark Gene: glul has been classified as Green List (High Evidence).
Mendeliome v0.14622 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Mendeliome v0.14621 GLUL Zornitza Stark Publications for gene: GLUL were set to
Mendeliome v0.14620 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14619 GLYCTK Zornitza Stark Marked gene: GLYCTK as ready
Mendeliome v0.14619 GLYCTK Zornitza Stark Gene: glyctk has been classified as Green List (High Evidence).
Mendeliome v0.14619 GLYCTK Zornitza Stark Phenotypes for gene: GLYCTK were changed from to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism
Mendeliome v0.14618 GLYCTK Zornitza Stark Publications for gene: GLYCTK were set to
Mendeliome v0.14617 GLYCTK Zornitza Stark Mode of inheritance for gene: GLYCTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14616 GMPPA Zornitza Stark Marked gene: GMPPA as ready
Mendeliome v0.14616 GMPPA Zornitza Stark Gene: gmppa has been classified as Green List (High Evidence).
Mendeliome v0.14616 GMPPA Zornitza Stark Phenotypes for gene: GMPPA were changed from to Alacrima, achalasia, and mental retardation syndrome, MIM# 615510
Mendeliome v0.14615 GMPPA Zornitza Stark Publications for gene: GMPPA were set to
Mendeliome v0.14614 GMPPA Zornitza Stark Mode of inheritance for gene: GMPPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14613 GMPPA Zornitza Stark reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and mental retardation syndrome, MIM# 615510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14613 GMPPB Zornitza Stark Marked gene: GMPPB as ready
Mendeliome v0.14613 GMPPB Zornitza Stark Gene: gmppb has been classified as Green List (High Evidence).
Mendeliome v0.14613 GMPPB Zornitza Stark Phenotypes for gene: GMPPB were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352
Mendeliome v0.14612 GMPPB Zornitza Stark Mode of inheritance for gene: GMPPB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14611 GMPPB Zornitza Stark reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14611 GNAS Zornitza Stark Marked gene: GNAS as ready
Mendeliome v0.14611 GNAS Zornitza Stark Gene: gnas has been classified as Green List (High Evidence).
Mendeliome v0.14611 GNAS Zornitza Stark Phenotypes for gene: GNAS were changed from to Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)
Mendeliome v0.14610 GNAS Zornitza Stark Mode of inheritance for gene: GNAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14609 GNAS Zornitza Stark reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osseous heteroplasia, progressive (166350) AD, Pituitary adenoma 3, multiple types, somatic (617686), Pseudohypoparathyroidism Ia (103580) AD, Pseudohypoparathyroidism Ib (603233) AD, Pseudohypoparathyroidism Ic (612462) AD, Pseudopseudohypoparathyroidism (612463); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14609 GNAT1 Zornitza Stark Marked gene: GNAT1 as ready
Mendeliome v0.14609 GNAT1 Zornitza Stark Gene: gnat1 has been classified as Green List (High Evidence).
Mendeliome v0.14609 GNAT1 Zornitza Stark Phenotypes for gene: GNAT1 were changed from to Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389
Mendeliome v0.14608 GNAT1 Zornitza Stark Publications for gene: GNAT1 were set to
Mendeliome v0.14607 GNAT1 Zornitza Stark Mode of inheritance for gene: GNAT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14606 GNAT1 Zornitza Stark reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8673138, 17584859, 22190596, 26472407, 11095744, 11095744, 30051303; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, MIM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14606 GNB3 Zornitza Stark Marked gene: GNB3 as ready
Mendeliome v0.14606 GNB3 Zornitza Stark Gene: gnb3 has been classified as Green List (High Evidence).
Mendeliome v0.14606 GNB3 Zornitza Stark Phenotypes for gene: GNB3 were changed from to Night blindness, congenital stationary, type 1H, MIM# 617024
Mendeliome v0.14605 GNB3 Zornitza Stark Publications for gene: GNB3 were set to
Mendeliome v0.14604 GNB3 Zornitza Stark Mode of inheritance for gene: GNB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14603 GNB3 Zornitza Stark reviewed gene: GNB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27063057, 17065478; Phenotypes: Night blindness, congenital stationary, type 1H, MIM# 617024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14603 GNMT Zornitza Stark Marked gene: GNMT as ready
Mendeliome v0.14603 GNMT Zornitza Stark Gene: gnmt has been classified as Green List (High Evidence).
Mendeliome v0.14603 GNMT Zornitza Stark Phenotypes for gene: GNMT were changed from to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids
Mendeliome v0.14602 GNMT Zornitza Stark Publications for gene: GNMT were set to
Mendeliome v0.14601 GNMT Zornitza Stark Mode of inheritance for gene: GNMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14600 GOSR2 Zornitza Stark Marked gene: GOSR2 as ready
Mendeliome v0.14600 GOSR2 Zornitza Stark Gene: gosr2 has been classified as Green List (High Evidence).
Mendeliome v0.14600 GOSR2 Zornitza Stark Phenotypes for gene: GOSR2 were changed from to Epilepsy, progressive myoclonic 6 , MIM#614018
Mendeliome v0.14599 GOSR2 Zornitza Stark Publications for gene: GOSR2 were set to
Mendeliome v0.14598 GOSR2 Zornitza Stark Mode of inheritance for gene: GOSR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14597 GOSR2 Zornitza Stark reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549339, 24458321, 30363482; Phenotypes: Epilepsy, progressive myoclonic 6 , MIM#614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14597 GOT1 Zornitza Stark Marked gene: GOT1 as ready
Mendeliome v0.14597 GOT1 Zornitza Stark Gene: got1 has been classified as Red List (Low Evidence).
Mendeliome v0.14597 GOT1 Zornitza Stark Phenotypes for gene: GOT1 were changed from to Aspartate aminotransferase, serum level of, QTL1, MIM# 614419
Mendeliome v0.14596 GOT1 Zornitza Stark Classified gene: GOT1 as Red List (low evidence)
Mendeliome v0.14596 GOT1 Zornitza Stark Gene: got1 has been classified as Red List (Low Evidence).
Mendeliome v0.14595 GOT1 Zornitza Stark reviewed gene: GOT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Aspartate aminotransferase, serum level of, QTL1, MIM# 614419; Mode of inheritance: None
Mendeliome v0.14595 GPC4 Zornitza Stark Marked gene: GPC4 as ready
Mendeliome v0.14595 GPC4 Zornitza Stark Gene: gpc4 has been classified as Green List (High Evidence).
Mendeliome v0.14595 GPC4 Zornitza Stark Phenotypes for gene: GPC4 were changed from to Keipert syndrome OMIM# 301026
Mendeliome v0.14594 GPC4 Zornitza Stark Publications for gene: GPC4 were set to
Mendeliome v0.14593 GPC4 Zornitza Stark Mode of inheritance for gene: GPC4 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14592 GPNMB Krithika Murali Deleted their review
Mendeliome v0.14592 GPNMB Krithika Murali reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31226264, 29336782, 31260093, 34551863, 33687658; Phenotypes: Amyloidosis, primary localized cutaneous, 3 - MIM#617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis v0.342 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.275 GLE1 Chirag Patel reviewed gene: GLE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 18204449, 22357925; Phenotypes: Lethal congenital contracture syndrome 1, MIM# 253310; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GDF2 Chirag Patel reviewed gene: GDF2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23972370, 27081547, 32573726, 32992168, 34611981, 33834622, 32669404, 26056270, 23972370; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5 OMIM # 615506, pulmonary arteriovenous malformations; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GCNT2 Chirag Patel reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cataract v0.339 GCNT2 Chirag Patel reviewed gene: GCNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15161861, 27936067, 12424189, 28224043; Phenotypes: Cataract 13 with adult i phenotype, OMIM # 116700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GJA1 Chirag Patel reviewed gene: GJA1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19338053; Phenotypes: Oculodentodigital dysplasia, autosomal recessive, MIM# 257850, Oculodentodigital dysplasia, MIM# 164200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Hyperinsulinism v0.29 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic Diabetes v0.26 GCK Chirag Patel reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14592 GINS1 Chirag Patel reviewed gene: GINS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28414293; Phenotypes: Immunodeficiency 55, OMIM #617827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14592 GDNF Chirag Patel Classified gene: GDNF as Red List (low evidence)
Mendeliome v0.14592 GDNF Chirag Patel Gene: gdnf has been classified as Red List (Low Evidence).
Mendeliome v0.14591 GDNF Chirag Patel reviewed gene: GDNF: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 8896568, 8968758; Phenotypes: {Hirschsprung disease, susceptibility to, 3}, OMIM # 613711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4791 GFM2 Chirag Patel Classified gene: GFM2 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4791 GFM2 Chirag Patel Gene: gfm2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4790 GFM2 Chirag Patel gene: GFM2 was added
gene: GFM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list
Mode of inheritance for gene: GFM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GFM2 were set to PMID: 22700954, 26016410, 29075935
Phenotypes for gene: GFM2 were set to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Review for gene: GFM2 was set to GREEN
Added comment: Combined oxidative phosphorylation deficiency-39 (COXPD39) is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. Affected individuals show global developmental delay, sometimes with regression after normal early development, axial hypotonia with limb spasticity or abnormal involuntary movements, and impaired intellectual development with poor speech. More variable features may include hypotonia, seizures, and features of Leigh syndrome on brain imaging. There are variable deficiencies of the mitochondrial respiratory chain enzyme complexes in patient tissues.

4 families reported with biallelic variants with functional evidence in 1 family.
Sources: Expert list
Mendeliome v0.14591 GFM2 Chirag Patel reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 GFM2 Chirag Patel reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14591 GDF9 Chirag Patel reviewed gene: GDF9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29044499, 8849725, 33036707; Phenotypes: Premature ovarian failure 14, OMIM# 618014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.133 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Amber List (moderate evidence)
Early-onset Parkinson disease v0.133 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Early-onset Parkinson disease v0.132 GIGYF2 Chirag Patel gene: GIGYF2 was added
gene: GIGYF2 was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: GIGYF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GIGYF2 were set to PMID: 18358451, 19449032
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11} , OMIM # 607688
Review for gene: GIGYF2 was set to AMBER
Added comment: In affected members of 12 unrelated Italian or French families with Parkinson disease-11 (PARK11; 607688), Lautier et al. (2008) identified 7 different heterozygous mutations in the GIGYF2 gene. Tan et al. (2009) identified 4 different heterozygous mutations in the GIGYF2 gene in 7 (1.6%) of 450 patients with Parkinson disease from Taiwan and Singapore. The mutations were not identified in 400 controls. Reduced penetrance seen in the families reported by both groups. No replication since.
Sources: Literature
Mendeliome v0.14591 GIGYF2 Chirag Patel Publications for gene: GIGYF2 were set to
Autism v0.184 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Red List (low evidence)
Autism v0.184 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Red List (Low Evidence).
Autism v0.184 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Red List (low evidence)
Autism v0.184 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Red List (Low Evidence).
Mendeliome v0.14590 GIGYF2 Chirag Patel Classified gene: GIGYF2 as Amber List (moderate evidence)
Mendeliome v0.14590 GIGYF2 Chirag Patel Gene: gigyf2 has been classified as Amber List (Moderate Evidence).
Autism v0.183 GIGYF2 Chirag Patel reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14589 GIGYF2 Chirag Patel reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 18358451; Phenotypes: {Parkinson disease 11} , OMIM # 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14589 HEY2 Zornitza Stark Marked gene: HEY2 as ready
Mendeliome v0.14589 HEY2 Zornitza Stark Gene: hey2 has been classified as Red List (Low Evidence).
Mendeliome v0.14589 HEY2 Zornitza Stark Phenotypes for gene: HEY2 were changed from congenital heart defects and thoracic aortic aneurysms to congenital heart disease MONDO:0005453; thoracic aortic aneurysms
Mendeliome v0.14588 GCH1 Chirag Patel reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 7874165, 11113234, 15753436, 9667588, 10987649, 32170445, 32278297, 32746945, 30314816; Phenotypes: Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14588 IL18BP Zornitza Stark Marked gene: IL18BP as ready
Mendeliome v0.14588 IL18BP Zornitza Stark Gene: il18bp has been classified as Red List (Low Evidence).
Mendeliome v0.14588 ITPKB Zornitza Stark Marked gene: ITPKB as ready
Mendeliome v0.14588 ITPKB Zornitza Stark Gene: itpkb has been classified as Red List (Low Evidence).
Mendeliome v0.14588 ITPKB Zornitza Stark Phenotypes for gene: ITPKB were changed from Severe combined immunodeficiency, absent T cells, present B cells and NK cells to Severe combined immunodeficiency MONDO:0015974, absent T cells, present B cells and NK cells
Mendeliome v0.14587 MUC7 Zornitza Stark Marked gene: MUC7 as ready
Mendeliome v0.14587 MUC7 Zornitza Stark Gene: muc7 has been classified as Red List (Low Evidence).
Mendeliome v0.14587 MUC7 Zornitza Stark Phenotypes for gene: MUC7 were changed from to {Asthma, protection against} MIM#600807
Mendeliome v0.14586 MUC7 Zornitza Stark Mode of inheritance for gene: MUC7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14585 MYF6 Zornitza Stark Marked gene: MYF6 as ready
Mendeliome v0.14585 MYF6 Zornitza Stark Gene: myf6 has been classified as Red List (Low Evidence).
Mendeliome v0.14585 MYF6 Zornitza Stark Phenotypes for gene: MYF6 were changed from to Centronuclear myopathy, MONDO:0018947
Mendeliome v0.14584 MYF6 Zornitza Stark Publications for gene: MYF6 were set to
Mendeliome v0.14583 MYF6 Zornitza Stark Mode of inheritance for gene: MYF6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14582 PDCD6IP Zornitza Stark Marked gene: PDCD6IP as ready
Mendeliome v0.14582 PDCD6IP Zornitza Stark Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14582 PDCD6IP Zornitza Stark Phenotypes for gene: PDCD6IP were changed from Microcephaly; intellectual disability to Neurodevelopmental disorder MONDO:0700092; Microcephaly; intellectual disability
Mendeliome v0.14581 PDCD6IP Zornitza Stark Classified gene: PDCD6IP as Amber List (moderate evidence)
Mendeliome v0.14581 PDCD6IP Zornitza Stark Gene: pdcd6ip has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14580 POU5F1 Zornitza Stark Marked gene: POU5F1 as ready
Mendeliome v0.14580 POU5F1 Zornitza Stark Gene: pou5f1 has been classified as Red List (Low Evidence).
Mendeliome v0.14580 GBA2 Chirag Patel reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ataxia - paediatric v0.337 GBA2 Chirag Patel reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23332916, 23332917, 29524657; Phenotypes: Spastic paraplegia 46, autosomal recessive, MIM# 614409, MONDO:0013737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14580 GATAD1 Chirag Patel Classified gene: GATAD1 as Red List (low evidence)
Mendeliome v0.14580 GATAD1 Chirag Patel Gene: gatad1 has been classified as Red List (Low Evidence).
Mendeliome v0.14579 SGK3 Zornitza Stark Marked gene: SGK3 as ready
Mendeliome v0.14579 SGK3 Zornitza Stark Gene: sgk3 has been classified as Red List (Low Evidence).
Mendeliome v0.14579 GATAD1 Chirag Patel reviewed gene: GATAD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21965549; Phenotypes: ?Cardiomyopathy, dilated, 2B, OMIM # 614672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 DMPK Zornitza Stark Marked gene: DMPK as ready
Mendeliome v0.14579 DMPK Zornitza Stark Gene: dmpk has been removed from the panel.
Mendeliome v0.14579 NOP56 Zornitza Stark Marked gene: NOP56 as ready
Mendeliome v0.14579 NOP56 Zornitza Stark Gene: nop56 has been removed from the panel.
Mendeliome v0.14579 NOP56 Zornitza Stark Tag STR tag was added to gene: NOP56.
Mendeliome v0.14579 GAN Chirag Patel reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hereditary Neuropathy - complex v0.125 GAN Chirag Patel reviewed gene: GAN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 11062483; Phenotypes: Giant axonal neuropathy-1, MIM# 256850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 GALNT3 Chirag Patel reviewed gene: GALNT3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15133511, 20358599, 32125652; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14579 GPD1 Zornitza Stark Marked gene: GPD1 as ready
Mendeliome v0.14579 GPD1 Zornitza Stark Gene: gpd1 has been classified as Green List (High Evidence).
Mendeliome v0.14579 GPD1 Zornitza Stark Phenotypes for gene: GPD1 were changed from to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency
Mendeliome v0.14578 GPD1 Zornitza Stark Publications for gene: GPD1 were set to
Mendeliome v0.14577 GPD1 Zornitza Stark Mode of inheritance for gene: GPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14576 GPD1 Zornitza Stark reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22226083, 24549054, 35365473, 34484308, 33447932; Phenotypes: Hypertriglyceridaemia, transient infantile, MIM# 614480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14576 GPHN Zornitza Stark Marked gene: GPHN as ready
Mendeliome v0.14576 GPHN Zornitza Stark Gene: gphn has been classified as Green List (High Evidence).
Mendeliome v0.14576 GPHN Zornitza Stark Publications for gene: GPHN were set to 22040219; 11095995; 26613940; 24561070; 23393157
Mendeliome v0.14575 GPNMB Zornitza Stark Marked gene: GPNMB as ready
Mendeliome v0.14575 GPNMB Zornitza Stark Gene: gpnmb has been classified as Green List (High Evidence).
Mendeliome v0.14575 GPNMB Zornitza Stark Phenotypes for gene: GPNMB were changed from to Amyloidosis, primary localized cutaneous, 3, MIM# 617920
Mendeliome v0.14574 GPNMB Zornitza Stark Publications for gene: GPNMB were set to
Mendeliome v0.14573 GPNMB Zornitza Stark Mode of inheritance for gene: GPNMB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14572 GPNMB Zornitza Stark reviewed gene: GPNMB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29336782; Phenotypes: Amyloidosis, primary localized cutaneous, 3, MIM# 617920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14572 GREM1 Zornitza Stark Marked gene: GREM1 as ready
Mendeliome v0.14572 GREM1 Zornitza Stark Gene: grem1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14572 GREM1 Zornitza Stark Phenotypes for gene: GREM1 were changed from to Genetic intestinal polyposis MONDO:0018188
Mendeliome v0.14571 GREM1 Zornitza Stark Publications for gene: GREM1 were set to
Mendeliome v0.14570 GREM1 Zornitza Stark Mode of inheritance for gene: GREM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14569 GREM1 Zornitza Stark Tag SV/CNV tag was added to gene: GREM1.
Mendeliome v0.14569 GREM1 Zornitza Stark Classified gene: GREM1 as Amber List (moderate evidence)
Mendeliome v0.14569 GREM1 Zornitza Stark Gene: grem1 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14568 MRAP Zornitza Stark Marked gene: MRAP as ready
Mendeliome v0.14568 MRAP Zornitza Stark Gene: mrap has been classified as Green List (High Evidence).
Mendeliome v0.14568 MRAP Zornitza Stark Phenotypes for gene: MRAP were changed from to Glucocorticoid deficiency 2, MIM# 607398
Mendeliome v0.14567 MRAP Zornitza Stark Publications for gene: MRAP were set to
Mendeliome v0.14566 MRAP Zornitza Stark Mode of inheritance for gene: MRAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14565 MRAP Zornitza Stark reviewed gene: MRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15654338; Phenotypes: Glucocorticoid deficiency 2, MIM# 607398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14565 MPZL2 Zornitza Stark Marked gene: MPZL2 as ready
Mendeliome v0.14565 MPZL2 Zornitza Stark Gene: mpzl2 has been classified as Green List (High Evidence).
Mendeliome v0.14565 MPZL2 Zornitza Stark Phenotypes for gene: MPZL2 were changed from to Deafness, autosomal recessive 111, MIM#618145
Mendeliome v0.14564 MPZL2 Zornitza Stark Publications for gene: MPZL2 were set to
Mendeliome v0.14563 MPZL2 Zornitza Stark Mode of inheritance for gene: MPZL2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14562 MPZL2 Zornitza Stark reviewed gene: MPZL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29982980, 29961571; Phenotypes: Deafness, autosomal recessive 111, MIM#618145; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 MPC1 Zornitza Stark Marked gene: MPC1 as ready
Mitochondrial disease v0.821 MPC1 Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.821 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mendeliome v0.14562 MPZ Zornitza Stark Marked gene: MPZ as ready
Mendeliome v0.14562 MPZ Zornitza Stark Gene: mpz has been classified as Green List (High Evidence).
Mendeliome v0.14562 MPZ Zornitza Stark Phenotypes for gene: MPZ were changed from to Charcot Marie Tooth disease, dominant intermediate D, 60779; Neuropathy, congenital hypomyelinating, 605253; Charcot Marie Tooth disease, type 2J, 607736; Dejerine Sottas disease, 145900; Charcot Marie Tooth disease, type 1B, 118200; Charcot Marie Tooth disease, type 2I, 607677; HMSN
Mendeliome v0.14561 MPZ Zornitza Stark Publications for gene: MPZ were set to
Mendeliome v0.14560 MPZ Zornitza Stark Mode of inheritance for gene: MPZ was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.820 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.819 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.818 MPC1 Zornitza Stark Publications for gene: MPC1 were set to
Mitochondrial disease v0.817 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14559 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Mendeliome v0.14559 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Mendeliome v0.14559 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Mendeliome v0.14558 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Mendeliome v0.14557 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14556 MPO Zornitza Stark Marked gene: MPO as ready
Mendeliome v0.14556 MPO Zornitza Stark Gene: mpo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14556 MPO Zornitza Stark Phenotypes for gene: MPO were changed from to Myeloperoxidase deficiency, MIM# 254600
Mendeliome v0.14555 MPO Zornitza Stark Mode of inheritance for gene: MPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14554 MPO Zornitza Stark Classified gene: MPO as Amber List (moderate evidence)
Mendeliome v0.14554 MPO Zornitza Stark Gene: mpo has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14553 MPO Zornitza Stark reviewed gene: MPO: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myeloperoxidase deficiency, MIM# 254600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.816 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.815 MPC1 Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14553 MPC1 Zornitza Stark Marked gene: MPC1 as ready
Mendeliome v0.14553 MPC1 Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence).
Mendeliome v0.14553 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mendeliome v0.14552 MPC1 Zornitza Stark Publications for gene: MPC1 were set to
Mendeliome v0.14551 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14550 MPC1 Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14550 MOG Zornitza Stark Marked gene: MOG as ready
Mendeliome v0.14550 MOG Zornitza Stark Gene: mog has been classified as Red List (Low Evidence).
Mendeliome v0.14550 MOG Zornitza Stark Phenotypes for gene: MOG were changed from to Narcolepsy 7 , MIM# 614250
Mendeliome v0.14549 MOG Zornitza Stark Publications for gene: MOG were set to
Mendeliome v0.14548 MOG Zornitza Stark Mode of inheritance for gene: MOG was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14547 MOG Zornitza Stark Classified gene: MOG as Red List (low evidence)
Mendeliome v0.14547 MOG Zornitza Stark Gene: mog has been classified as Red List (Low Evidence).
Mendeliome v0.14546 MOG Zornitza Stark reviewed gene: MOG: Rating: RED; Mode of pathogenicity: None; Publications: 21907016; Phenotypes: Narcolepsy 7 , MIM# 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4789 MOCS3 Zornitza Stark Marked gene: MOCS3 as ready
Intellectual disability syndromic and non-syndromic v0.4789 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4789 MOCS3 Zornitza Stark Classified gene: MOCS3 as Amber List (moderate evidence)
Intellectual disability syndromic and non-syndromic v0.4789 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Intellectual disability syndromic and non-syndromic v0.4788 MOCS3 Zornitza Stark gene: MOCS3 was added
gene: MOCS3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review
Mode of inheritance for gene: MOCS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS3 were set to 33897766; 28544736
Phenotypes for gene: MOCS3 were set to Molybdenum cofactor deficiency MONDO:0020480
Review for gene: MOCS3 was set to AMBER
Added comment: Two unrelated families reported.
Sources: Expert Review
Mendeliome v0.14546 MOCS3 Zornitza Stark Marked gene: MOCS3 as ready
Mendeliome v0.14546 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14546 MOCS3 Zornitza Stark Phenotypes for gene: MOCS3 were changed from to Molybdenum cofactor deficiency MONDO:0020480
Mendeliome v0.14545 MOCS3 Zornitza Stark Publications for gene: MOCS3 were set to
Mendeliome v0.14544 MOCS3 Zornitza Stark Mode of inheritance for gene: MOCS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14543 MOCS3 Zornitza Stark Classified gene: MOCS3 as Amber List (moderate evidence)
Mendeliome v0.14543 MOCS3 Zornitza Stark Gene: mocs3 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14542 MOCS3 Zornitza Stark reviewed gene: MOCS3: Rating: AMBER; Mode of pathogenicity: None; Publications: 33897766, 28544736; Phenotypes: Molybdenum cofactor deficiency MONDO:0020480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14542 MOCS1 Zornitza Stark Marked gene: MOCS1 as ready
Mendeliome v0.14542 MOCS1 Zornitza Stark Gene: mocs1 has been classified as Green List (High Evidence).
Mendeliome v0.14542 MOCS1 Zornitza Stark Publications for gene: MOCS1 were set to 21031595; 9921896; 12754701
Mendeliome v0.14541 MNX1 Zornitza Stark Marked gene: MNX1 as ready
Mendeliome v0.14541 MNX1 Zornitza Stark Gene: mnx1 has been classified as Green List (High Evidence).
Mendeliome v0.14541 MNX1 Zornitza Stark Phenotypes for gene: MNX1 were changed from to Currarino syndrome, MIM# 176450
Mendeliome v0.14540 MNX1 Zornitza Stark Publications for gene: MNX1 were set to
Mendeliome v0.14539 MNX1 Zornitza Stark Mode of inheritance for gene: MNX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14538 MMP2 Zornitza Stark Marked gene: MMP2 as ready
Mendeliome v0.14538 MMP2 Zornitza Stark Gene: mmp2 has been classified as Green List (High Evidence).
Mendeliome v0.14538 MMP2 Zornitza Stark Phenotypes for gene: MMP2 were changed from to Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600
Mendeliome v0.14537 MMP2 Zornitza Stark Publications for gene: MMP2 were set to
Mendeliome v0.14536 MMP2 Zornitza Stark Mode of inheritance for gene: MMP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14535 MMP2 Zornitza Stark reviewed gene: MMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11431697, 15691365, 17059372, 17400654; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM# 259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14535 ATP6V1A Elena Savva Publications for gene: ATP6V1A were set to 29668857; 28065471; 33320377
Mendeliome v0.14534 ATP6V1A Elena Savva Mode of inheritance for gene: ATP6V1A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14533 ATP6V1A Elena Savva Publications for gene: ATP6V1A were set to
Mendeliome v0.14533 ATP6V1A Elena Savva Mode of inheritance for gene: ATP6V1A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14533 ATP6V1A Elena Savva Marked gene: ATP6V1A as ready
Mendeliome v0.14533 ATP6V1A Elena Savva Gene: atp6v1a has been classified as Green List (High Evidence).
Mendeliome v0.14533 ATP6V1A Elena Savva Phenotypes for gene: ATP6V1A were changed from to Cutis laxa, autosomal recessive, type IID MIM#617403; Developmental and epileptic encephalopathy 93 MIM#618012
Mendeliome v0.14532 ATP6V1A Elena Savva reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29668857, 28065471, 33320377; Phenotypes: Cutis laxa, autosomal recessive, type IID MIM#617403, Developmental and epileptic encephalopathy 93 MIM#618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14532 ATP6AP2 Elena Savva Phenotypes for gene: ATP6AP2 were changed from ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423 to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Mendeliome v0.14531 ATP6AP2 Elena Savva Marked gene: ATP6AP2 as ready
Mendeliome v0.14531 ATP6AP2 Elena Savva Gene: atp6ap2 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Craniosynostosis v1.40 WDR19 Chirag Patel Classified gene: WDR19 as Green List (high evidence)
Craniosynostosis v1.40 WDR19 Chirag Patel Gene: wdr19 has been classified as Green List (High Evidence).
Mendeliome v0.14531 ATP6AP2 Elena Savva Phenotypes for gene: ATP6AP2 were changed from to ?Parkinsonism with spasticity, X-linked MIM#300911; Congenital disorder of glycosylation, type IIr MIM#301045; Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423
Mendeliome v0.14531 ATP6AP2 Elena Savva Publications for gene: ATP6AP2 were set to
Mendeliome v0.14531 ATP6AP2 Elena Savva Mode of inheritance for gene: ATP6AP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14531 ATP6AP2 Elena Savva Mode of pathogenicity for gene: ATP6AP2 was changed from to Other
Craniosynostosis v1.39 WDR19 Chirag Patel gene: WDR19 was added
gene: WDR19 was added to Craniosynostosis. Sources: Literature
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to PMID: 24027799
Phenotypes for gene: WDR19 were set to Cranioectodermal dysplasia 4 , OMIM # 614378
Review for gene: WDR19 was set to GREEN
Added comment: Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described. Mutations in WDR19 account for ~7% cases,
Sources: Literature
Mendeliome v0.14530 ATP6AP2 Elena Savva reviewed gene: ATP6AP2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 23595882; Phenotypes: ?Parkinsonism with spasticity, X-linked MIM#300911, Congenital disorder of glycosylation, type IIr MIM#301045, Intellectual developmental disorder, X-linked, syndromic, Hedera type MIM#300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14530 MMADHC Zornitza Stark Marked gene: MMADHC as ready
Mendeliome v0.14530 MMADHC Zornitza Stark Gene: mmadhc has been classified as Green List (High Evidence).
Mendeliome v0.14530 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.14529 MMADHC Zornitza Stark Publications for gene: MMADHC were set to
Mendeliome v0.14528 MMADHC Zornitza Stark Mode of inheritance for gene: MMADHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14527 MMACHC Zornitza Stark Marked gene: MMACHC as ready
Mendeliome v0.14527 MMACHC Zornitza Stark Gene: mmachc has been classified as Green List (High Evidence).
Mendeliome v0.14527 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Mendeliome v0.14526 MMACHC Zornitza Stark Publications for gene: MMACHC were set to
Mendeliome v0.14525 MMACHC Zornitza Stark Mode of inheritance for gene: MMACHC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14524 MMAB Zornitza Stark Marked gene: MMAB as ready
Mendeliome v0.14524 MMAB Zornitza Stark Gene: mmab has been classified as Green List (High Evidence).
Mendeliome v0.14524 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110
Mendeliome v0.14523 MMAB Zornitza Stark Mode of inheritance for gene: MMAB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14522 MMAB Zornitza Stark reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblB type, MIM# 251110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14522 MMAA Zornitza Stark Marked gene: MMAA as ready
Mendeliome v0.14522 MMAA Zornitza Stark Gene: mmaa has been classified as Green List (High Evidence).
Mendeliome v0.14522 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from to Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100
Mendeliome v0.14521 MMAA Zornitza Stark Mode of inheritance for gene: MMAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14520 MMAA Zornitza Stark reviewed gene: MMAA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Methylmalonic aciduria, vitamin B12-responsive, cblA type, MIM# 251100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14520 MLPH Zornitza Stark Marked gene: MLPH as ready
Mendeliome v0.14520 MLPH Zornitza Stark Gene: mlph has been classified as Green List (High Evidence).
Mendeliome v0.14520 MLPH Zornitza Stark Phenotypes for gene: MLPH were changed from to Griscelli syndrome, type 3, MIM# 609227
Mendeliome v0.14519 MLPH Zornitza Stark Publications for gene: MLPH were set to
Mendeliome v0.14518 MLPH Zornitza Stark Mode of inheritance for gene: MLPH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14517 MLPH Zornitza Stark reviewed gene: MLPH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12897212, 32864751, 31721180; Phenotypes: Griscelli syndrome, type 3, MIM# 609227; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14517 MITF Zornitza Stark Marked gene: MITF as ready
Mendeliome v0.14517 MITF Zornitza Stark Gene: mitf has been classified as Green List (High Evidence).
Mendeliome v0.14517 MITF Zornitza Stark Phenotypes for gene: MITF were changed from to COMMAD syndrome, MIM# 617306; Tietz albinism-deafness syndrome, MIM# 103500; Waardenburg syndrome, type 2A, MIM# 193510
Mendeliome v0.14516 MITF Zornitza Stark Publications for gene: MITF were set to
Mendeliome v0.14515 MITF Zornitza Stark Mode of inheritance for gene: MITF was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14514 MITF Zornitza Stark reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889061, 32541011; Phenotypes: COMMAD syndrome, MIM# 617306, Tietz albinism-deafness syndrome, MIM# 103500, Waardenburg syndrome, type 2A, MIM# 193510; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14514 MIR936 Zornitza Stark Marked gene: MIR936 as ready
Mendeliome v0.14514 MIR936 Zornitza Stark Gene: mir936 has been classified as Red List (Low Evidence).
Mendeliome v0.14514 MIR936 Zornitza Stark Classified gene: MIR936 as Red List (low evidence)
Mendeliome v0.14514 MIR936 Zornitza Stark Gene: mir936 has been classified as Red List (Low Evidence).
Mendeliome v0.14513 MIR936 Zornitza Stark reviewed gene: MIR936: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Cataract v0.339 MIR184 Zornitza Stark Marked gene: MIR184 as ready
Cataract v0.339 MIR184 Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence).
Cataract v0.339 MIR184 Zornitza Stark Phenotypes for gene: MIR184 were changed from to EDICT syndrome, MIM# 614303
Cataract v0.338 MIR184 Zornitza Stark Publications for gene: MIR184 were set to
Cataract v0.337 MIR184 Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cataract v0.336 MIR184 Zornitza Stark reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: None; Publications: 21996275, 22131394, 25373792, 24138095; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14513 MIR184 Zornitza Stark Marked gene: MIR184 as ready
Mendeliome v0.14513 MIR184 Zornitza Stark Gene: mir184 has been classified as Green List (High Evidence).
Mendeliome v0.14513 MIR184 Zornitza Stark Phenotypes for gene: MIR184 were changed from to EDICT syndrome, MIM# 614303
Mendeliome v0.14512 MIR184 Zornitza Stark Publications for gene: MIR184 were set to
Mendeliome v0.14511 MIR184 Zornitza Stark Mode of inheritance for gene: MIR184 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14510 MIR184 Zornitza Stark reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: None; Publications: 21996275, 22131394, 25373792, 24138095; Phenotypes: EDICT syndrome, MIM# 614303; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14510 MIR183 Zornitza Stark Marked gene: MIR183 as ready
Mendeliome v0.14510 MIR183 Zornitza Stark Gene: mir183 has been classified as Red List (Low Evidence).
Mendeliome v0.14510 MIR183 Zornitza Stark Classified gene: MIR183 as Red List (low evidence)
Mendeliome v0.14510 MIR183 Zornitza Stark Gene: mir183 has been classified as Red List (Low Evidence).
Mendeliome v0.14509 MIR183 Zornitza Stark reviewed gene: MIR183: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability syndromic and non-syndromic v0.4787 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Intellectual disability syndromic and non-syndromic v0.4786 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Genetic Epilepsy v0.1605 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Genetic Epilepsy v0.1604 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Microcephaly v1.123 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Microcephaly v1.122 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14509 CPSF3 Zornitza Stark Phenotypes for gene: CPSF3 were changed from Neurodevelopmental disorder, CPSF3-related, MONDO:0700092 to Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876
Mendeliome v0.14508 CPSF3 Zornitza Stark reviewed gene: CPSF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and seizures (NEDMHS), MIM#619876; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14508 ATP2C1 Elena Savva Publications for gene: ATP2C1 were set to 28551824
Mendeliome v0.14508 ATP2C1 Elena Savva Phenotypes for gene: ATP2C1 were changed from Hailey-Hailey disease (MIM# 169600) to Hailey-Hailey disease (MIM#169600)
Mendeliome v0.14507 ATP2C1 Elena Savva Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease (MIM# 169600)
Mendeliome v0.14506 ATP2C1 Elena Savva Publications for gene: ATP2C1 were set to
Mendeliome v0.14506 ATP2C1 Elena Savva Marked gene: ATP2C1 as ready
Mendeliome v0.14506 ATP2C1 Elena Savva Gene: atp2c1 has been classified as Green List (High Evidence).
Mendeliome v0.14506 ATP2C1 Elena Savva Mode of inheritance for gene: ATP2C1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14505 ATP6V0A1 Elena Savva Marked gene: ATP6V0A1 as ready
Mendeliome v0.14505 ATP6V0A1 Elena Savva Gene: atp6v0a1 has been classified as Green List (High Evidence).
Mendeliome v0.14505 MIR182 Zornitza Stark Marked gene: MIR182 as ready
Mendeliome v0.14505 MIR182 Zornitza Stark Gene: mir182 has been classified as Red List (Low Evidence).
Mendeliome v0.14505 MIR182 Zornitza Stark Classified gene: MIR182 as Red List (low evidence)
Mendeliome v0.14505 MIR182 Zornitza Stark Gene: mir182 has been classified as Red List (Low Evidence).
Mendeliome v0.14504 MIR182 Zornitza Stark reviewed gene: MIR182: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14504 MIP Zornitza Stark Marked gene: MIP as ready
Mendeliome v0.14504 MIP Zornitza Stark Gene: mip has been classified as Green List (High Evidence).
Mendeliome v0.14504 MIP Zornitza Stark Phenotypes for gene: MIP were changed from to Cataract 15, multiple types, MIM# 615274
Mendeliome v0.14503 MIP Zornitza Stark Publications for gene: MIP were set to
Mendeliome v0.14502 MIP Zornitza Stark Mode of inheritance for gene: MIP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14501 MIP Zornitza Stark reviewed gene: MIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 10802646, 16564824, 33530927, 30214549; Phenotypes: Cataract 15, multiple types, MIM# 615274; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14501 MIF Zornitza Stark Marked gene: MIF as ready
Mendeliome v0.14501 MIF Zornitza Stark Gene: mif has been classified as Red List (Low Evidence).
Mendeliome v0.14501 MIF Zornitza Stark Mode of inheritance for gene: MIF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14500 MIF Zornitza Stark Phenotypes for gene: MIF were changed from to {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302
Mendeliome v0.14499 MIF Zornitza Stark Classified gene: MIF as Red List (low evidence)
Mendeliome v0.14499 MIF Zornitza Stark Gene: mif has been classified as Red List (Low Evidence).
Mendeliome v0.14498 MIF Zornitza Stark reviewed gene: MIF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Rheumatoid arthritis, systemic juvenile, susceptibility to}, MIM# 604302; Mode of inheritance: None
Mitochondrial disease v0.815 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Mitochondrial disease v0.815 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.815 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.814 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.813 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to 23313956; 29572490; 28711739
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14498 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Mendeliome v0.14498 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.810 MGME1 Zornitza Stark reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313956, 29572490, 28711739; Phenotypes: Mitochondrial DNA depletion syndrome 11, MIM# 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14498 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mendeliome v0.14497 MGME1 Zornitza Stark Publications for gene: MGME1 were set to
Mendeliome v0.14496 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14495 MGME1 Zornitza Stark reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313956, 29572490, 28711739; Phenotypes: Mitochondrial DNA depletion syndrome 11, MIM# 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4786 MFF Zornitza Stark Marked gene: MFF as ready
Intellectual disability syndromic and non-syndromic v0.4786 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Mendeliome v0.14495 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Mendeliome v0.14495 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Mendeliome v0.14495 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Intellectual disability syndromic and non-syndromic v0.4786 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Intellectual disability syndromic and non-syndromic v0.4785 MFF Zornitza Stark Publications for gene: MFF were set to
Mendeliome v0.14494 MFF Zornitza Stark Marked gene: MFF as ready
Mendeliome v0.14494 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4784 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4783 MFF Zornitza Stark reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 26783368, 32181496; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14494 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Mendeliome v0.14493 MFF Zornitza Stark Publications for gene: MFF were set to
Mendeliome v0.14492 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14491 MFF Zornitza Stark reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 26783368, 32181496]; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14491 METTL23 Zornitza Stark Marked gene: METTL23 as ready
Mendeliome v0.14491 METTL23 Zornitza Stark Gene: mettl23 has been classified as Green List (High Evidence).
Mendeliome v0.14491 METTL23 Zornitza Stark Phenotypes for gene: METTL23 were changed from to Intellectual developmental disorder, autosomal recessive 44, MIM# 615942
Mendeliome v0.14490 METTL23 Zornitza Stark Publications for gene: METTL23 were set to
Mendeliome v0.14489 METTL23 Zornitza Stark Mode of inheritance for gene: METTL23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14488 METTL23 Zornitza Stark reviewed gene: METTL23: Rating: GREEN; Mode of pathogenicity: None; Publications: 24501276, 24626631; Phenotypes: Intellectual developmental disorder, autosomal recessive 44, MIM# 615942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14488 MET Zornitza Stark Marked gene: MET as ready
Mendeliome v0.14488 MET Zornitza Stark Gene: met has been classified as Green List (High Evidence).
Mendeliome v0.14488 MET Zornitza Stark Phenotypes for gene: MET were changed from to Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074; Papillary renal cell carcinoma MONDO:0017884
Mendeliome v0.14487 MET Zornitza Stark Mode of inheritance for gene: MET was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14486 MET Zornitza Stark edited their review of gene: MET: Changed phenotypes: Renal cell carcinoma, papillary, 1, familial and somatic, MIM# 605074, Papillary renal cell carcinoma MONDO:0017884
Mendeliome v0.14486 MET Zornitza Stark reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Papillary renal cell carcinoma MONDO:0017884; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Marked gene: MERTK as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Gene: mertk has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.127 MERTK Zornitza Stark Phenotypes for gene: MERTK were changed from childhood onset rod-cone dystrophy with early macular atrophy; Leber congenital amaurosisRetinitis pigmentosa 38, 613862 to Retinitis pigmentosa 38, MIM# 613862
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.126 MERTK Zornitza Stark Publications for gene: MERTK were set to
Mendeliome v0.14486 ATG16L1 Elena Savva Marked gene: ATG16L1 as ready
Mendeliome v0.14486 ATG16L1 Elena Savva Gene: atg16l1 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 MERTK Zornitza Stark reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38, MIM# 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14486 MERTK Zornitza Stark Marked gene: MERTK as ready
Mendeliome v0.14486 MERTK Zornitza Stark Gene: mertk has been classified as Green List (High Evidence).
Mendeliome v0.14486 MERTK Zornitza Stark Phenotypes for gene: MERTK were changed from to Retinitis pigmentosa 38, MIM# 613862
Mendeliome v0.14485 MERTK Zornitza Stark Publications for gene: MERTK were set to
Mendeliome v0.14484 MERTK Zornitza Stark Mode of inheritance for gene: MERTK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14483 MERTK Zornitza Stark reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062461, 17301963, 20300561, 22180149; Phenotypes: Retinitis pigmentosa 38, MIM# 613862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14483 MEIS1 Zornitza Stark Marked gene: MEIS1 as ready
Mendeliome v0.14483 MEIS1 Zornitza Stark Gene: meis1 has been classified as Red List (Low Evidence).
Mendeliome v0.14483 MEIS1 Zornitza Stark Classified gene: MEIS1 as Red List (low evidence)
Mendeliome v0.14483 MEIS1 Zornitza Stark Gene: meis1 has been classified as Red List (Low Evidence).
Mendeliome v0.14482 MEIS1 Zornitza Stark reviewed gene: MEIS1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14482 ATP1A1 Elena Savva Phenotypes for gene: ATP1A1 were changed from Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314 to Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314
Mendeliome v0.14481 ATP2A2 Elena Savva Marked gene: ATP2A2 as ready
Mendeliome v0.14481 ATP2A2 Elena Savva Gene: atp2a2 has been classified as Green List (High Evidence).
Mendeliome v0.14481 ATG16L1 Elena Savva Phenotypes for gene: ATG16L1 were changed from to {Inflammatory bowel disease (Crohn disease) 10} MIM#611081
Mendeliome v0.14480 ATG16L1 Elena Savva Publications for gene: ATG16L1 were set to
Mendeliome v0.14480 ATG16L1 Elena Savva Classified gene: ATG16L1 as Red List (low evidence)
Mendeliome v0.14480 ATG16L1 Elena Savva Gene: atg16l1 has been classified as Red List (Low Evidence).
Mendeliome v0.14479 ATL3 Elena Savva Phenotypes for gene: ATL3 were changed from Neuropathy, hereditary sensory, type IF, MIM# 615632 to Neuropathy, hereditary sensory, type IF, MIM# 615632
Mendeliome v0.14478 ATP2A2 Elena Savva Phenotypes for gene: ATP2A2 were changed from to Acrokeratosis verruciformis MIM#101900; Darier disease MIM#124200
Mendeliome v0.14477 ATP2A2 Elena Savva Publications for gene: ATP2A2 were set to
Mendeliome v0.14477 ATP2A2 Elena Savva Mode of inheritance for gene: ATP2A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14476 ATP1A1 Elena Savva Phenotypes for gene: ATP1A1 were changed from to Charcot-Marie-Tooth disease, axonal, type 2DD MIM#618036; Hypomagnesemia, seizures, and mental retardation 2 MIM#618314
Mendeliome v0.14475 ATP1A1 Elena Savva Marked gene: ATP1A1 as ready
Mendeliome v0.14475 ATP1A1 Elena Savva Gene: atp1a1 has been classified as Green List (High Evidence).
Mendeliome v0.14475 ATG16L1 Elena Savva reviewed gene: ATG16L1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 20602997; Phenotypes: {Inflammatory bowel disease (Crohn disease) 10} MIM#611081; Mode of inheritance: None
Mendeliome v0.14475 ATL3 Elena Savva Phenotypes for gene: ATL3 were changed from to Neuropathy, hereditary sensory, type IF, MIM# 615632
Mendeliome v0.14474 ATL3 Elena Savva Marked gene: ATL3 as ready
Mendeliome v0.14474 ATL3 Elena Savva Gene: atl3 has been classified as Green List (High Evidence).
Mendeliome v0.14474 ATP2A2 Elena Savva reviewed gene: ATP2A2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24336169; Phenotypes: Acrokeratosis verruciformis MIM#101900, Darier disease MIM#124200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14474 ATP1A1 Elena Savva Publications for gene: ATP1A1 were set to
Mendeliome v0.14474 ATP1A1 Elena Savva Mode of inheritance for gene: ATP1A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14473 ATL3 Elena Savva Publications for gene: ATL3 were set to
Mendeliome v0.14473 ATL3 Elena Savva Mode of inheritance for gene: ATL3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14472 ATF1 Elena Savva Marked gene: ATF1 as ready
Mendeliome v0.14472 ATF1 Elena Savva Gene: atf1 has been classified as Red List (Low Evidence).
Mendeliome v0.14472 ATF1 Elena Savva Classified gene: ATF1 as Red List (low evidence)
Mendeliome v0.14472 ATF1 Elena Savva Gene: atf1 has been classified as Red List (Low Evidence).
Mendeliome v0.14471 MEIOB Zornitza Stark Marked gene: MEIOB as ready
Mendeliome v0.14471 MEIOB Zornitza Stark Gene: meiob has been classified as Green List (High Evidence).
Mendeliome v0.14471 ASPN Elena Savva Marked gene: ASPN as ready
Mendeliome v0.14471 ASPN Elena Savva Gene: aspn has been classified as Red List (Low Evidence).
Mendeliome v0.14471 MEGF8 Zornitza Stark Marked gene: MEGF8 as ready
Mendeliome v0.14471 MEGF8 Zornitza Stark Gene: megf8 has been classified as Green List (High Evidence).
Mendeliome v0.14471 MEGF8 Zornitza Stark Phenotypes for gene: MEGF8 were changed from to Carpenter syndrome, MIM#614976
Mendeliome v0.14470 MEGF8 Zornitza Stark Publications for gene: MEGF8 were set to
Mendeliome v0.14469 MEGF8 Zornitza Stark Mode of inheritance for gene: MEGF8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14468 MEGF8 Zornitza Stark reviewed gene: MEGF8: Rating: GREEN; Mode of pathogenicity: None; Publications: 23063620; Phenotypes: Carpenter syndrome, MIM#614976; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14468 MEFV Zornitza Stark Marked gene: MEFV as ready
Mendeliome v0.14468 MEFV Zornitza Stark Gene: mefv has been classified as Green List (High Evidence).
Mendeliome v0.14468 ASPN Elena Savva Publications for gene: ASPN were set to
Mendeliome v0.14467 MEFV Zornitza Stark Phenotypes for gene: MEFV were changed from to Familial Mediterranean fever MIM# 249100
Mendeliome v0.14466 MEFV Zornitza Stark Mode of inheritance for gene: MEFV was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14465 MEFV Zornitza Stark reviewed gene: MEFV: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Familial Mediterranean fever MIM# 249100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14465 MED23 Zornitza Stark Marked gene: MED23 as ready
Mendeliome v0.14465 MED23 Zornitza Stark Gene: med23 has been classified as Green List (High Evidence).
Mendeliome v0.14465 MED23 Zornitza Stark Phenotypes for gene: MED23 were changed from to Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, MIM# 614249
Mendeliome v0.14464 MED23 Zornitza Stark Publications for gene: MED23 were set to
Mendeliome v0.14463 MED23 Zornitza Stark Mode of inheritance for gene: MED23 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14462 MED23 Zornitza Stark reviewed gene: MED23: Rating: GREEN; Mode of pathogenicity: None; Publications: 21868677, 25845469, 27311965, 30847200, 31164858; Phenotypes: Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy, MIM# 614249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14462 MED13 Zornitza Stark Marked gene: MED13 as ready
Mendeliome v0.14462 MED13 Zornitza Stark Gene: med13 has been classified as Green List (High Evidence).
Mendeliome v0.14462 MED13 Zornitza Stark Phenotypes for gene: MED13 were changed from to Intellectual developmental disorder, autosomal dominant 61, MIM# 618009
Mendeliome v0.14461 MED13 Zornitza Stark Publications for gene: MED13 were set to
Mendeliome v0.14460 MED13 Zornitza Stark Mode of inheritance for gene: MED13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14459 MED13 Zornitza Stark reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29740699; Phenotypes: Intellectual developmental disorder, autosomal dominant 61, MIM# 618009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14459 MECP2 Zornitza Stark Marked gene: MECP2 as ready
Mendeliome v0.14459 MECP2 Zornitza Stark Gene: mecp2 has been classified as Green List (High Evidence).
Mendeliome v0.14459 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from to Rett syndrome, MIM# 312750; Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055; Encephalopathy, neonatal severe, MIM# 300673
Mendeliome v0.14458 MECP2 Zornitza Stark Publications for gene: MECP2 were set to
Mendeliome v0.14457 MECP2 Zornitza Stark Mode of inheritance for gene: MECP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mendeliome v0.14456 MECP2 Zornitza Stark reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rett syndrome, MIM# 312750, Intellectual developmental disorder, X-linked, syndromic 13, MIM# 300055, Encephalopathy, neonatal severe, MIM# 300673; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Marked gene: MCM9 as ready
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Gene: mcm9 has been classified as Green List (High Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.300 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from Ovarian dysgenesis 4, 616185 to Ovarian dysgenesis 4, MIM#616185
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.299 MCM9 Zornitza Stark Publications for gene: MCM9 were set to
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.298 MCM9 Zornitza Stark reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480036, 26771056, 33538981, 33095795; Phenotypes: Ovarian dysgenesis 4, MIM# 616185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14456 MCM9 Zornitza Stark Marked gene: MCM9 as ready
Mendeliome v0.14456 MCM9 Zornitza Stark Gene: mcm9 has been classified as Green List (High Evidence).
Mendeliome v0.14456 MCM9 Zornitza Stark Phenotypes for gene: MCM9 were changed from to Ovarian dysgenesis 4, MIM# 616185
Mendeliome v0.14455 MCM9 Zornitza Stark Publications for gene: MCM9 were set to
Mendeliome v0.14454 MCM9 Zornitza Stark Mode of inheritance for gene: MCM9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14453 MCM9 Zornitza Stark reviewed gene: MCM9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25480036, 26771056, 33538981, 33095795; Phenotypes: Ovarian dysgenesis 4, MIM# 616185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14453 MCM8 Zornitza Stark Marked gene: MCM8 as ready
Mendeliome v0.14453 MCM8 Zornitza Stark Gene: mcm8 has been classified as Green List (High Evidence).
Mendeliome v0.14453 ASPN Elena Savva Phenotypes for gene: ASPN were changed from {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850 to {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850
Mendeliome v0.14453 ASPN Elena Savva Phenotypes for gene: ASPN were changed from to {Lumbar disc degeneration} MIM#603932; {Osteoarthritis susceptibility 3} MIM#607850
Mendeliome v0.14452 ASPN Elena Savva Classified gene: ASPN as Red List (low evidence)
Mendeliome v0.14452 ASPN Elena Savva Gene: aspn has been classified as Red List (Low Evidence).
Mendeliome v0.14451 ARV1 Elena Savva Marked gene: ARV1 as ready
Mendeliome v0.14451 ARV1 Elena Savva Gene: arv1 has been classified as Green List (High Evidence).
Cardiomyopathy_Adult_SuperPanel v1.33 Bryony Thompson Panel types changed to Superpanel; Victorian Clinical Genetics Services; Rare Disease; Royal Melbourne Hospital
Mendeliome v0.14451 ASPN Elena Savva Mode of inheritance for gene: ASPN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mendeliome v0.14450 ARV1 Elena Savva Phenotypes for gene: ARV1 were changed from to DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 MIM#61720; Dilated cardiomyopathy
Mendeliome v0.14449 ARV1 Elena Savva Publications for gene: ARV1 were set to
Mendeliome v0.14449 ARV1 Elena Savva Mode of inheritance for gene: ARV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.298 MCM8 Zornitza Stark Publications for gene: MCM8 were set to 32652893
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 MCM8 Zornitza Stark reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14448 MCM8 Zornitza Stark Phenotypes for gene: MCM8 were changed from to Premature ovarian failure 10, MIM# 612885
Mendeliome v0.14447 MCM8 Zornitza Stark Publications for gene: MCM8 were set to
Mendeliome v0.14446 MCM8 Zornitza Stark Mode of inheritance for gene: MCM8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14445 MCM8 Zornitza Stark reviewed gene: MCM8: Rating: GREEN; Mode of pathogenicity: None; Publications: 25437880, 25873734; Phenotypes: Premature ovarian failure 10, MIM# 612885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14445 MCM6 Zornitza Stark Marked gene: MCM6 as ready
Mendeliome v0.14445 MCM6 Zornitza Stark Gene: mcm6 has been classified as Red List (Low Evidence).
Mendeliome v0.14445 MCM6 Zornitza Stark Phenotypes for gene: MCM6 were changed from to Lactase persistence/nonpersistence 223100
Mendeliome v0.14444 MCM6 Zornitza Stark Mode of inheritance for gene: MCM6 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14443 MCM6 Zornitza Stark Classified gene: MCM6 as Red List (low evidence)
Mendeliome v0.14443 MCM6 Zornitza Stark Gene: mcm6 has been classified as Red List (Low Evidence).
Mendeliome v0.14442 MCM6 Zornitza Stark reviewed gene: MCM6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase persistence/nonpersistence 223100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Autoinflammatory Disorders v0.148 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Autoinflammatory Disorders v0.147 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Predominantly Antibody Deficiency v0.110 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Predominantly Antibody Deficiency v0.109 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Pulmonary Fibrosis_Interstitial Lung Disease v0.43 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Pulmonary Fibrosis_Interstitial Lung Disease v0.42 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Mendeliome v0.14442 OAS1 Zornitza Stark Phenotypes for gene: OAS1 were changed from Autoinflammatory immunodeficiency; infantile-onset pulmonary alveolar proteinosis; hypogammaglobulinaemia to Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Mendeliome v0.14441 OAS1 Zornitza Stark edited their review of gene: OAS1: Changed phenotypes: Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042
Mendeliome v0.14441 MCEE Zornitza Stark Marked gene: MCEE as ready
Mendeliome v0.14441 MCEE Zornitza Stark Gene: mcee has been classified as Green List (High Evidence).
Mendeliome v0.14441 MCEE Zornitza Stark Phenotypes for gene: MCEE were changed from to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias
Mendeliome v0.14440 MCEE Zornitza Stark Publications for gene: MCEE were set to
Mendeliome v0.14439 MCEE Zornitza Stark Mode of inheritance for gene: MCEE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14438 MCCC2 Zornitza Stark Marked gene: MCCC2 as ready
Mendeliome v0.14438 MCCC2 Zornitza Stark Gene: mccc2 has been classified as Green List (High Evidence).
Mendeliome v0.14438 MCCC2 Zornitza Stark Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Vasculitis v0.68 MBL2 Zornitza Stark Marked gene: MBL2 as ready
Vasculitis v0.68 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14437 MCCC2 Zornitza Stark Publications for gene: MCCC2 were set to
Mendeliome v0.14436 MCCC2 Zornitza Stark Mode of inheritance for gene: MCCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14435 MCCC2 Zornitza Stark reviewed gene: MCCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14435 MCCC1 Zornitza Stark Marked gene: MCCC1 as ready
Mendeliome v0.14435 MCCC1 Zornitza Stark Gene: mccc1 has been classified as Green List (High Evidence).
Mendeliome v0.14435 MCCC1 Zornitza Stark Phenotypes for gene: MCCC1 were changed from to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Mendeliome v0.14434 MCCC1 Zornitza Stark Publications for gene: MCCC1 were set to
Mendeliome v0.14433 MCCC1 Zornitza Stark Mode of inheritance for gene: MCCC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14432 MCCC1 Zornitza Stark reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14432 MC3R Zornitza Stark Marked gene: MC3R as ready
Mendeliome v0.14432 MC3R Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence).
Mendeliome v0.14432 MC3R Zornitza Stark Phenotypes for gene: MC3R were changed from to {Obesity, severe, susceptibility to, BMIQ9} 602025
Mendeliome v0.14431 MC3R Zornitza Stark Mode of inheritance for gene: MC3R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14430 MC3R Zornitza Stark Classified gene: MC3R as Red List (low evidence)
Mendeliome v0.14430 MC3R Zornitza Stark Gene: mc3r has been classified as Red List (Low Evidence).
Mendeliome v0.14429 MC3R Zornitza Stark reviewed gene: MC3R: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Obesity, severe, susceptibility to, BMIQ9} 602025; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.68 MBL2 Zornitza Stark Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372
Mendeliome v0.14429 MC2R Zornitza Stark Marked gene: MC2R as ready
Mendeliome v0.14429 MC2R Zornitza Stark Gene: mc2r has been classified as Green List (High Evidence).
Mendeliome v0.14429 MC2R Zornitza Stark Phenotypes for gene: MC2R were changed from to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200
Mendeliome v0.14428 MC2R Zornitza Stark Publications for gene: MC2R were set to
Mendeliome v0.14427 MC2R Zornitza Stark Mode of inheritance for gene: MC2R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.67 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14426 MC2R Zornitza Stark reviewed gene: MC2R: Rating: GREEN; Mode of pathogenicity: None; Publications: 8094489, 8227361; Phenotypes: Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Vasculitis v0.66 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Vasculitis v0.66 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14426 MBL2 Zornitza Stark Marked gene: MBL2 as ready
Mendeliome v0.14426 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14426 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.65 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Vasculitis v0.65 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14425 MBL2 Zornitza Stark Mode of inheritance for gene: MBL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Vasculitis v0.64 MBL2 Zornitza Stark reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Chronic infections, due to MBL deficiency} 614372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14424 MBL2 Zornitza Stark Phenotypes for gene: MBL2 were changed from to {Chronic infections, due to MBL deficiency} 614372
Mendeliome v0.14423 MBL2 Zornitza Stark Classified gene: MBL2 as Red List (low evidence)
Mendeliome v0.14423 MBL2 Zornitza Stark Gene: mbl2 has been classified as Red List (Low Evidence).
Mendeliome v0.14422 MBL2 Zornitza Stark reviewed gene: MBL2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Chronic infections, due to MBL deficiency} 614372; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14422 MATR3 Zornitza Stark Marked gene: MATR3 as ready
Mendeliome v0.14422 MATR3 Zornitza Stark Gene: matr3 has been classified as Green List (High Evidence).
Mendeliome v0.14422 MATR3 Zornitza Stark Phenotypes for gene: MATR3 were changed from to Amyotrophic lateral sclerosis 21, MIM# 606070; Distal myopathy
Mendeliome v0.14421 MATR3 Zornitza Stark Publications for gene: MATR3 were set to
Mendeliome v0.14420 MATR3 Zornitza Stark Mode of inheritance for gene: MATR3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14419 MATR3 Zornitza Stark reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19344878, 24686783, 35205163, 34659085, 34173818, 26493020; Phenotypes: Amyotrophic lateral sclerosis 21, MIM# 606070, Distal myopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.261 MAP3K1 Zornitza Stark Marked gene: MAP3K1 as ready
Differences of Sex Development v0.261 MAP3K1 Zornitza Stark Gene: map3k1 has been classified as Green List (High Evidence).
Differences of Sex Development v0.261 MAP3K1 Zornitza Stark Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)
Differences of Sex Development v0.260 MAP3K1 Zornitza Stark Publications for gene: MAP3K1 were set to
Differences of Sex Development v0.259 MAP3K1 Zornitza Stark Mode of inheritance for gene: MAP3K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Differences of Sex Development v0.258 MAP3K1 Zornitza Stark reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14419 MAP3K1 Zornitza Stark Marked gene: MAP3K1 as ready
Mendeliome v0.14419 MAP3K1 Zornitza Stark Gene: map3k1 has been classified as Green List (High Evidence).
Mendeliome v0.14419 MAP3K1 Zornitza Stark Phenotypes for gene: MAP3K1 were changed from to 46XY sex reversal 6 (MIM#613762)
Mendeliome v0.14418 MAP3K1 Zornitza Stark Publications for gene: MAP3K1 were set to
Mendeliome v0.14417 MAP3K1 Zornitza Stark Mode of inheritance for gene: MAP3K1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14416 MAP3K1 Zornitza Stark reviewed gene: MAP3K1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21129722, 32986312; Phenotypes: 46XY sex reversal 6 (MIM#613762); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14416 MAK Zornitza Stark Marked gene: MAK as ready
Mendeliome v0.14416 MAK Zornitza Stark Gene: mak has been classified as Green List (High Evidence).
Mendeliome v0.14416 MAK Zornitza Stark Phenotypes for gene: MAK were changed from to Retinitis pigmentosa 62, MIM# 614181
Mendeliome v0.14415 MAK Zornitza Stark Publications for gene: MAK were set to
Mendeliome v0.14414 MAK Zornitza Stark Mode of inheritance for gene: MAK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14413 MAK Zornitza Stark reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: None; Publications: 21825139, 21835304; Phenotypes: Retinitis pigmentosa 62, MIM# 614181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14413 MAGT1 Zornitza Stark Marked gene: MAGT1 as ready
Mendeliome v0.14413 MAGT1 Zornitza Stark Gene: magt1 has been classified as Green List (High Evidence).
Mendeliome v0.14413 MAGT1 Zornitza Stark Phenotypes for gene: MAGT1 were changed from to Congenital disorder of glycosylation, type Icc (MIM# 301031); Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)
Mendeliome v0.14412 MAGT1 Zornitza Stark Publications for gene: MAGT1 were set to
Mendeliome v0.14411 MAGT1 Zornitza Stark Mode of inheritance for gene: MAGT1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14410 MAGT1 Zornitza Stark changed review comment from: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation; to: PMID: 31036665;
- 3 affecteds (males; 2x CDG and 1x XMEN)
- All 3 patients have an N-glycosylation defect

PMID: 31714901;
- 23 XMEN patients from 17 families
- glycoproteomic analysis on T cells from 3 patients with XMEN showed defective glycosylation

These likely represent a single disorder.
Mendeliome v0.14410 MAGT1 Zornitza Stark reviewed gene: MAGT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31036665, 31714901; Phenotypes: Congenital disorder of glycosylation, type Icc (MIM# 301031), Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14410 GREM1 Krithika Murali reviewed gene: GREM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 22561515, 26493165, 21128281, 29804199; Phenotypes: hereditary mixed polyposis syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14410 MNX1 Abhijit Kulkarni reviewed gene: MNX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32571425, 33836786 , 11528505; Phenotypes: Currarino syndrome, MIM# 176450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14410 MSX1 Abhijit Kulkarni reviewed gene: MSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33419968, 33708320, 32192766; Phenotypes: Witkop syndrome (Ectodermal Dysplasia) (MIM: 189500),Cleft Lip+/- Cleft Palate (Rofacial Cleft- MIM :608874), Oligodontia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuria v0.201 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to 27932480; 25271328; 25108225
Proteinuria v0.200 MAGI2 Zornitza Stark changed review comment from: 3 individuals from two unrelated families reported; mouse model recapitulates phenotype.; to: Four families and extensive functional data, including two mouse and one zebrafish model.
Proteinuria v0.200 MAGI2 Zornitza Stark edited their review of gene: MAGI2: Changed publications: 27932480, 25108225, 25271328, 31171376, 31010479
Mendeliome v0.14410 MAGI2 Zornitza Stark Marked gene: MAGI2 as ready
Mendeliome v0.14410 MAGI2 Zornitza Stark Gene: magi2 has been classified as Green List (High Evidence).
Mendeliome v0.14410 MAGI2 Zornitza Stark Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15, MIM# 617609
Mendeliome v0.14409 MAGI2 Zornitza Stark Publications for gene: MAGI2 were set to
Mendeliome v0.14408 MAGI2 Zornitza Stark Mode of inheritance for gene: MAGI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14407 MAGI2 Zornitza Stark reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27932480, 25108225, 25271328, 31171376, 31010479; Phenotypes: Nephrotic syndrome, type 15, MIM# 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14407 MYO3A Zornitza Stark Marked gene: MYO3A as ready
Mendeliome v0.14407 MYO3A Zornitza Stark Gene: myo3a has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4783 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Intellectual disability syndromic and non-syndromic v0.4783 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4783 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
Intellectual disability syndromic and non-syndromic v0.4782 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Intellectual disability syndromic and non-syndromic v0.4781 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Intellectual disability syndromic and non-syndromic v0.4780 OPHN1 Zornitza Stark reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20528889, 9582072, 12807966, 16221952; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14407 OPHN1 Zornitza Stark Marked gene: OPHN1 as ready
Mendeliome v0.14407 OPHN1 Zornitza Stark Gene: ophn1 has been classified as Green List (High Evidence).
Mendeliome v0.14407 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486
Mendeliome v0.14406 OPHN1 Zornitza Stark Publications for gene: OPHN1 were set to
Mendeliome v0.14405 OPHN1 Zornitza Stark Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14404 OPHN1 Zornitza Stark edited their review of gene: OPHN1: Changed publications: 20528889, 9582072, 12807966, 16221952
Mendeliome v0.14404 OPHN1 Zornitza Stark Deleted their comment
Mendeliome v0.14404 OPHN1 Zornitza Stark commented on gene: OPHN1: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.
Mendeliome v0.14404 PAH Zornitza Stark Marked gene: PAH as ready
Mendeliome v0.14404 PAH Zornitza Stark Gene: pah has been classified as Green List (High Evidence).
Mendeliome v0.14404 PAH Zornitza Stark Phenotypes for gene: PAH were changed from to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism
Mendeliome v0.14403 PAH Zornitza Stark Publications for gene: PAH were set to
Mendeliome v0.14402 PAH Zornitza Stark Mode of inheritance for gene: PAH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14401 PCDH12 Zornitza Stark Marked gene: PCDH12 as ready
Mendeliome v0.14401 PCDH12 Zornitza Stark Gene: pcdh12 has been classified as Green List (High Evidence).
Mendeliome v0.14401 PCDH12 Zornitza Stark Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280
Mendeliome v0.14400 PCDH12 Zornitza Stark Publications for gene: PCDH12 were set to
Mendeliome v0.14399 PCDH12 Zornitza Stark Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14398 PCDH12 Zornitza Stark reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 27164683, 30178464; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14398 PEPD Zornitza Stark Marked gene: PEPD as ready
Mendeliome v0.14398 PEPD Zornitza Stark Gene: pepd has been classified as Green List (High Evidence).
Mendeliome v0.14398 PEPD Zornitza Stark Phenotypes for gene: PEPD were changed from to Prolidase deficiency MIM#170100; disorders of peptide metabolism
Mendeliome v0.14397 PEPD Zornitza Stark Publications for gene: PEPD were set to
Mendeliome v0.14396 PEPD Zornitza Stark Mode of inheritance for gene: PEPD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14395 PEX10 Zornitza Stark Marked gene: PEX10 as ready
Mendeliome v0.14395 PEX10 Zornitza Stark Gene: pex10 has been classified as Green List (High Evidence).
Mendeliome v0.14395 PEX10 Zornitza Stark Phenotypes for gene: PEX10 were changed from to Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870); Peroxisome biogenesis disorder 6B (MIM#614871)
Mendeliome v0.14394 PEX10 Zornitza Stark Publications for gene: PEX10 were set to
Mendeliome v0.14393 PEX10 Zornitza Stark Mode of inheritance for gene: PEX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14392 PCK1 Zornitza Stark Marked gene: PCK1 as ready
Mendeliome v0.14392 PCK1 Zornitza Stark Gene: pck1 has been classified as Green List (High Evidence).
Mendeliome v0.14392 PCK1 Zornitza Stark Phenotypes for gene: PCK1 were changed from to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis
Mendeliome v0.14391 PCK1 Zornitza Stark Publications for gene: PCK1 were set to
Mendeliome v0.14390 PCK1 Zornitza Stark Mode of inheritance for gene: PCK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14389 QDPR Zornitza Stark Marked gene: QDPR as ready
Mendeliome v0.14389 QDPR Zornitza Stark Gene: qdpr has been classified as Green List (High Evidence).
Mendeliome v0.14389 REEP1 Zornitza Stark Marked gene: REEP1 as ready
Mendeliome v0.14389 REEP1 Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence).
Mendeliome v0.14389 REEP1 Zornitza Stark Phenotypes for gene: REEP1 were changed from to Neuronopathy, distal hereditary motor, type VB MIM#614751; Spastic paraplegia 31, autosomal dominant MIM#610250; Charcot-Marie-Tooth; severe congenital distal SMA with diaphragmatic paralysis; congenital axonal neuropathy and diaphragmatic palsy
Mendeliome v0.14388 REEP1 Zornitza Stark Publications for gene: REEP1 were set to
Mendeliome v0.14387 REEP1 Zornitza Stark Mode of inheritance for gene: REEP1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14386 RLBP1 Zornitza Stark Marked gene: RLBP1 as ready
Mendeliome v0.14386 RLBP1 Zornitza Stark Gene: rlbp1 has been classified as Green List (High Evidence).
Mendeliome v0.14386 RLBP1 Zornitza Stark Phenotypes for gene: RLBP1 were changed from to Fundus albipunctatus MIM#136880; Bothnia retinal dystrophy MIM#607475
Mendeliome v0.14385 RLBP1 Zornitza Stark Publications for gene: RLBP1 were set to
Mendeliome v0.14384 RLBP1 Zornitza Stark Mode of inheritance for gene: RLBP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14383 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Mendeliome v0.14383 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Mendeliome v0.14383 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Mendeliome v0.14382 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14381 RBFOX2 Chern Lim Deleted their comment
Mendeliome v0.14381 RNASEH1 Zornitza Stark Marked gene: RNASEH1 as ready
Mendeliome v0.14381 RNASEH1 Zornitza Stark Gene: rnaseh1 has been classified as Green List (High Evidence).
Mendeliome v0.14381 RNASEH1 Zornitza Stark Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Mendeliome v0.14380 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Marked gene: RNASEH1 as ready
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Gene: rnaseh1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to 26094573; 31258551
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to
Mendeliome v0.14379 RBFOX2 Chern Lim edited their review of gene: RBFOX2: Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS). No further patient-specific clinical or variant info were available. Same cohort later included in PMID: 32368696, listed 4 de novo variants in this gene, in patients with left ventricular outflow tract obstruction (LVOTO) or conotruncal defects (CTDs).

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.; Changed publications: PMID: 26785492, 27670201, 27485310, 25205790, 35137168, 26785492
Mitochondrial disease v0.808 RNASEH1 Zornitza Stark Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14379 RNASEH1 Zornitza Stark Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14378 RNASEH2A Zornitza Stark Marked gene: RNASEH2A as ready
Mendeliome v0.14378 RNASEH2A Zornitza Stark Gene: rnaseh2a has been classified as Green List (High Evidence).
Mendeliome v0.14378 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from to Aicardi-Goutieres syndrome 4 MIM#610333
Mendeliome v0.14377 RNASEH2A Zornitza Stark Publications for gene: RNASEH2A were set to
Mendeliome v0.14376 RNASEH2A Zornitza Stark Mode of inheritance for gene: RNASEH2A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14375 RNF139 Zornitza Stark Marked gene: RNF139 as ready
Mendeliome v0.14375 RNF139 Zornitza Stark Gene: rnf139 has been classified as Red List (Low Evidence).
Mendeliome v0.14375 RNF139 Zornitza Stark Phenotypes for gene: RNF139 were changed from to Renal cell carcinoma MIM#144700
Mendeliome v0.14374 RNF139 Zornitza Stark Publications for gene: RNF139 were set to
Mendeliome v0.14373 RNF139 Zornitza Stark Mode of inheritance for gene: RNF139 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14372 RNF139 Zornitza Stark Classified gene: RNF139 as Red List (low evidence)
Mendeliome v0.14372 RNF139 Zornitza Stark Gene: rnf139 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Marked gene: TMC8 as ready
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Gene: tmc8 has been classified as Green List (High Evidence).
Mendeliome v0.14371 RP1 Zornitza Stark Marked gene: RP1 as ready
Mendeliome v0.14371 RP1 Zornitza Stark Gene: rp1 has been classified as Green List (High Evidence).
Mendeliome v0.14371 RP1 Zornitza Stark Phenotypes for gene: RP1 were changed from to Retinitis pigmentosa 1 MIM#180100
Mendeliome v0.14370 RP1 Zornitza Stark Publications for gene: RP1 were set to
Mendeliome v0.14369 RP1 Zornitza Stark Mode of inheritance for gene: RP1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14368 RP2 Zornitza Stark Marked gene: RP2 as ready
Mendeliome v0.14368 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Marked gene: RP2 as ready
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Gene: rp2 has been classified as Green List (High Evidence).
Retinitis pigmentosa_Autosomal Recessive/X-linked v0.125 RP2 Zornitza Stark Publications for gene: RP2 were set to
Mendeliome v0.14368 RP2 Zornitza Stark Phenotypes for gene: RP2 were changed from to Retinitis pigmentosa 2 MIM#312600
Mendeliome v0.14367 RP2 Zornitza Stark Publications for gene: RP2 were set to
Mendeliome v0.14366 RP2 Zornitza Stark Mode of inheritance for gene: RP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14365 RP9 Zornitza Stark Marked gene: RP9 as ready
Mendeliome v0.14365 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Mendeliome v0.14365 RP9 Zornitza Stark Phenotypes for gene: RP9 were changed from to Retinitis pigmentosa 9 MIM#180104
Mendeliome v0.14364 RP9 Zornitza Stark Publications for gene: RP9 were set to
Mendeliome v0.14363 RP9 Zornitza Stark Mode of inheritance for gene: RP9 was changed from MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14362 RP9 Zornitza Stark Mode of inheritance for gene: RP9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Retinitis pigmentosa_Autosomal Dominant v0.53 RP9 Zornitza Stark Marked gene: RP9 as ready
Retinitis pigmentosa_Autosomal Dominant v0.53 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Retinitis pigmentosa_Autosomal Dominant v0.53 RP9 Zornitza Stark Publications for gene: RP9 were set to
Retinitis pigmentosa_Autosomal Dominant v0.52 RP9 Zornitza Stark Classified gene: RP9 as Red List (low evidence)
Retinitis pigmentosa_Autosomal Dominant v0.52 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Defects of intrinsic and innate immunity v0.112 TMC8 Zornitza Stark Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Mendeliome v0.14361 RP9 Zornitza Stark Classified gene: RP9 as Red List (low evidence)
Mendeliome v0.14361 RP9 Zornitza Stark Gene: rp9 has been classified as Red List (Low Evidence).
Mendeliome v0.14360 RYR1 Zornitza Stark Marked gene: RYR1 as ready
Mendeliome v0.14360 RYR1 Zornitza Stark Gene: ryr1 has been classified as Green List (High Evidence).
Mendeliome v0.14360 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from to {Malignant hyperthermia susceptibility 1} MIM#145600; Central core disease, MIM# 117000; King-Denborough syndrome , MIM#619542; Minicore myopathy with external ophthalmoplegia , MIM#255320; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Mendeliome v0.14359 RYR1 Zornitza Stark Publications for gene: RYR1 were set to
Mendeliome v0.14358 RYR1 Zornitza Stark Mode of inheritance for gene: RYR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14357 RYR1 Zornitza Stark reviewed gene: RYR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central core disease, MIM# 117000, King-Denborough syndrome , MIM#619542, Minicore myopathy with external ophthalmoplegia , MIM#255320, Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14357 SACS Zornitza Stark Marked gene: SACS as ready
Mendeliome v0.14357 SACS Zornitza Stark Gene: sacs has been classified as Green List (High Evidence).
Mendeliome v0.14357 SACS Zornitza Stark Phenotypes for gene: SACS were changed from to Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Mendeliome v0.14356 SACS Zornitza Stark Mode of inheritance for gene: SACS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14355 SACS Zornitza Stark Tag SV/CNV tag was added to gene: SACS.
Mendeliome v0.14355 SCN11A Zornitza Stark Marked gene: SCN11A as ready
Mendeliome v0.14355 SCN11A Zornitza Stark Gene: scn11a has been classified as Green List (High Evidence).
Mendeliome v0.14355 SCN11A Zornitza Stark Phenotypes for gene: SCN11A were changed from to Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548; Episodic pain syndrome, familial, 3, MIM# 615552
Mendeliome v0.14354 SCN11A Zornitza Stark Publications for gene: SCN11A were set to
Mendeliome v0.14353 SCN11A Zornitza Stark Mode of inheritance for gene: SCN11A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14352 SCN11A Zornitza Stark edited their review of gene: SCN11A: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548, Episodic pain syndrome, familial, 3, MIM# 615552
Defects of intrinsic and innate immunity v0.111 TMC8 Zornitza Stark Publications for gene: TMC8 were set to
Defects of intrinsic and innate immunity v0.110 TMC8 Zornitza Stark Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14352 TMC8 Zornitza Stark Marked gene: TMC8 as ready
Mendeliome v0.14352 TMC8 Zornitza Stark Gene: tmc8 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.109 TMC8 Zornitza Stark reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613, 12426567; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14352 TMC8 Zornitza Stark Phenotypes for gene: TMC8 were changed from to Epidermodysplasia verruciformis 2, MIM# 618231
Mendeliome v0.14351 TMC8 Zornitza Stark Publications for gene: TMC8 were set to
Mendeliome v0.14350 TMC8 Zornitza Stark Mode of inheritance for gene: TMC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14349 TMC8 Zornitza Stark reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 12426567, 28646613; Phenotypes: Epidermodysplasia verruciformis 2, MIM# 618231; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14349 ATP6V0A1 Bryony Thompson Mode of inheritance for gene: ATP6V0A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14348 ATP6V0A1 Bryony Thompson Classified gene: ATP6V0A1 as Green List (high evidence)
Mendeliome v0.14348 ATP6V0A1 Bryony Thompson Gene: atp6v0a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1604 ATP6V0A1 Bryony Thompson Marked gene: ATP6V0A1 as ready
Genetic Epilepsy v0.1604 ATP6V0A1 Bryony Thompson Gene: atp6v0a1 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1604 ATP6V0A1 Bryony Thompson Classified gene: ATP6V0A1 as Green List (high evidence)
Genetic Epilepsy v0.1604 ATP6V0A1 Bryony Thompson Gene: atp6v0a1 has been classified as Green List (High Evidence).
Mendeliome v0.14347 ATP6V0A1 Bryony Thompson Publications for gene: ATP6V0A1 were set to 30842224; 33057194
Mendeliome v0.14346 ATP6V0A1 Bryony Thompson Phenotypes for gene: ATP6V0A1 were changed from Developmental disorder; Rett syndrome-like to Neurodevelopmental disorder MONDO:0700092, ATP6V0A1-associated
Mendeliome v0.14345 RLBP1 Belinda Chong reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326942, 11453974, 11868161, 21447491, 25429852, 14718298; Phenotypes: Fundus albipunctatus MIM#136880, Bothnia retinal dystrophy MIM#607475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14345 RBFOX2 Chern Lim gene: RBFOX2 was added
gene: RBFOX2 was added to Mendeliome. Sources: Literature
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to PMID: 26785492; 27670201; 27485310; 25205790; 35137168
Phenotypes for gene: RBFOX2 were set to Hypoplastic left heart syndrome (HLHS)
Review for gene: RBFOX2 was set to AMBER
gene: RBFOX2 was marked as current diagnostic
Added comment: - PMID: 26785492: Analysed CHD (1213 congenital heart disease trios) and control (autism spectrum disorder) trios for de novo mutations. Found RBFOX2 gene had significantly more damaging de novo variants than expected: 3 de novo LoF variants (eg. nonsense, frameshift, or canonical splice disruptions). All 3 probands have hypoplastic left heart syndrome (HLHS).
No further patient-specific clinical or variant info were available.

- PMID: 27670201: RNA expression study showed the silenced allele harbours a nonsense RBFOX2 variant (Arg287*), CHD patient heart tissue sample, same patient published in PMID: 26785492.
- PMID: 27485310: Functional studies using heart tissue sample from HLHS patient with NM_001031695.2:c.859C>T p.(Arg287*) showed subcellular mislocalisation, impacting its nuclear function in RNA splicing.

- PMID: 25205790: De novo 111.3kb del chr22:36038076-36149338 (hg19) which includes APOL5,APOL6,RBFOX2, in a patient with HLHS.

- PMID: 35137168: Rbfox2 conditional knockout mouse model recapitulated several molecular and phenotypic features of HLHS.
Sources: Literature
Mendeliome v0.14345 ATF1 Abhijit Kulkarni reviewed gene: ATF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to 35518358; 29220673
Intellectual disability syndromic and non-syndromic v0.4780 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Intellectual disability syndromic and non-syndromic v0.4780 GRIA4 Ain Roesley Mode of inheritance for gene: GRIA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to 35518358; 29220673
Intellectual disability syndromic and non-syndromic v0.4780 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to 35518358; 29220673
Intellectual disability syndromic and non-syndromic v0.4779 GRIA4 Ain Roesley Marked gene: GRIA4 as ready
Intellectual disability syndromic and non-syndromic v0.4779 GRIA4 Ain Roesley Gene: gria4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1603 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864 to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Intellectual disability syndromic and non-syndromic v0.4779 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Genetic Epilepsy v0.1602 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Intellectual disability syndromic and non-syndromic v0.4779 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to
Genetic Epilepsy v0.1602 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to
Intellectual disability syndromic and non-syndromic v0.4779 GRIA4 Ain Roesley Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1602 GRIA4 Ain Roesley Marked gene: GRIA4 as ready
Genetic Epilepsy v0.1602 GRIA4 Ain Roesley Gene: gria4 has been classified as Green List (High Evidence).
Genetic Epilepsy v0.1602 GRIA4 Ain Roesley Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Genetic Epilepsy v0.1601 GRIA4 Ain Roesley reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4778 GRIA4 Ain Roesley reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.14345 GRIA4 Ain Roesley Marked gene: GRIA4 as ready
Mendeliome v0.14345 GRIA4 Ain Roesley Gene: gria4 has been classified as Green List (High Evidence).
Mendeliome v0.14345 GRIA4 Ain Roesley Phenotypes for gene: GRIA4 were changed from to Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864
Mendeliome v0.14345 GRIA4 Ain Roesley Publications for gene: GRIA4 were set to
Mendeliome v0.14345 GRIA4 Ain Roesley Mode of inheritance for gene: GRIA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14344 GRIA4 Ain Roesley reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 35518358, 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities MIM#617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Intellectual disability syndromic and non-syndromic v0.4778 GRID2 Ain Roesley Phenotypes for gene: GRID2 were changed from to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Intellectual disability syndromic and non-syndromic v0.4778 GRID2 Ain Roesley Marked gene: GRID2 as ready
Intellectual disability syndromic and non-syndromic v0.4778 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4778 GRID2 Ain Roesley Publications for gene: GRID2 were set to
Intellectual disability syndromic and non-syndromic v0.4778 GRID2 Ain Roesley Mode of inheritance for gene: GRID2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4777 GRID2 Ain Roesley reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622959, 32170608; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18 MIM#616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital nystagmus v1.11 GRID2 Ain Roesley Marked gene: GRID2 as ready
Congenital nystagmus v1.11 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.11 GRID2 Ain Roesley Classified gene: GRID2 as Green List (high evidence)
Congenital nystagmus v1.11 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Congenital nystagmus v1.10 GRID2 Ain Roesley gene: GRID2 was added
gene: GRID2 was added to Congenital nystagmus. Sources: Literature
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to 32622959
Phenotypes for gene: GRID2 were set to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Review for gene: GRID2 was set to GREEN
gene: GRID2 was marked as current diagnostic
Added comment: Nystagmus reported in majority of cases
Sources: Literature
Mendeliome v0.14344 GRID2 Ain Roesley Marked gene: GRID2 as ready
Mendeliome v0.14344 GRID2 Ain Roesley Gene: grid2 has been classified as Green List (High Evidence).
Mendeliome v0.14344 GRID2 Ain Roesley Phenotypes for gene: GRID2 were changed from to Spinocerebellar ataxia, autosomal recessive 18 MIM#616204
Mendeliome v0.14344 GRID2 Ain Roesley Publications for gene: GRID2 were set to
Mendeliome v0.14343 GRID2 Ain Roesley Tag SV/CNV tag was added to gene: GRID2.
Mendeliome v0.14343 GRID2 Ain Roesley reviewed gene: GRID2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32622959, 32170608; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18 MIM#616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mendeliome v0.14343 GRIN2D Ain Roesley Marked gene: GRIN2D as ready
Mendeliome v0.14343 GRIN2D Ain Roesley Gene: grin2d has been classified as Green List (High Evidence).
Mendeliome v0.14343 GRIN2D Ain Roesley Phenotypes for gene: GRIN2D were changed from to Developmental and epileptic encephalopathy 46 MIM#617162
Mendeliome v0.14342 GRIN2D Ain Roesley Publications for gene: GRIN2D were set to
Mendeliome v0.14342 GRIN2D Ain Roesley Mode of inheritance for gene: GRIN2D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14341 GRIN2D Ain Roesley reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 27616483, 30280376; Phenotypes: Developmental and epileptic encephalopathy 46 617162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Mendeliome v0.14341 ASPN Abhijit Kulkarni reviewed gene: ASPN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 25689697; Mode of inheritance: None
Mendeliome v0.14341 TMC8 Abhijit Kulkarni reviewed gene: TMC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 34459021, 28646613; Phenotypes: Epidermodysplasia verruciformis 2 (MIM: 61831); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Radial Ray Abnormalities v1.2 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Radial Ray Abnormalities v1.1 MECOM Chirag Patel gene: MECOM was added
gene: MECOM was added to Radial Ray Abnormalities. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #
Review for gene: MECOM was set to GREEN
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
-Multiple affected families reported

Radioulnar synostosis (RUS) without hematological aberration
-8 families with RUS and no identifiable hematological abnormalities
-WES identified unique missense variants in MECOM
-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.
-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses.
Sources: Literature
Skeletal dysplasia v0.176 MECOM Chirag Patel Classified gene: MECOM as Green List (high evidence)
Skeletal dysplasia v0.176 MECOM Chirag Patel Gene: mecom has been classified as Green List (High Evidence).
Skeletal dysplasia v0.175 MECOM Chirag Patel gene: MECOM was added
gene: MECOM was added to Skeletal dysplasia. Sources: Literature
Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MECOM were set to PMID: 35219593, 26581901, 29519864
Phenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM # 616738; Radioulnar synostosis without hematological aberration, no OMIM #
Review for gene: MECOM was set to GREEN
Added comment: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
-Multiple affected families reported

Radioulnar synostosis (RUS) without hematological aberration
-8 families with RUS and no identifiable hematological abnormalities
-WES identified unique missense variants in MECOM
-6 families had variants in residue R781, 2 other variants included I783T and Q777E. All variants clustered within the ninth zinc finger motif of EVI1.
-Functional experiments showed that MECOM R781C led to alterations in TGF-β–mediated transcriptional responses.
Sources: Literature
Mendeliome v0.14341 BICC1 Abhijit Kulkarni reviewed gene: BICC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: renal dysplasia, cystic, susceptibility to; Mode of inheritance: None
Mendeliome v0.14341 ARV1 Abhijit Kulkarni reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35227294, 27270415, 25558065; Phenotypes: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 ( MIM:61720) Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14341 RMND1 Belinda Chong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Callosome v0.446 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Callosome v0.446 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.446 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Callosome v0.446 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4777 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4777 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4777 ADD1 Chirag Patel Classified gene: ADD1 as Green List (high evidence)
Intellectual disability syndromic and non-syndromic v0.4777 ADD1 Chirag Patel Gene: add1 has been classified as Green List (High Evidence).
Callosome v0.445 ADD1 Chirag Patel gene: ADD1 was added
gene: ADD1 was added to Callosome. Sources: Literature
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to PMID: 34906466
Phenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4776 ADD1 Chirag Patel gene: ADD1 was added
gene: ADD1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: ADD1 were set to PMID: 34906466
Phenotypes for gene: ADD1 were set to Intellectual disability, corpus callosum dysgenesis, and ventriculomegaly; no OMIM #
Review for gene: ADD1 was set to GREEN
Added comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown.
Sources: Literature
Intellectual disability syndromic and non-syndromic v0.4775 PROSER1 Chirag Patel gene: PROSER1 was added
gene: PROSER1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature
Mode of inheritance for gene: PROSER1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROSER1 were set to PMID: 35229282
Phenotypes for gene: PROSER1 were set to Developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, and genitourinary malformations, no OMIM #
Review for gene: PROSER1 was set to RED
Added comment: 4 children from 3 related families with developmental delay, hypotonia, seizures, failure-to-thrive, strabismus, drooling, recurrent otitis media, hearing impairment, genitourinary malformations, and common facial features (arched eyebrows, prominent eyes, broad nasal bridge, low-hanging columella, open mouth, thick lower lip, protruding tongue, large low-set ears, and parietal bossing). WES revealed a homozygous frame-shift variant (p.Thr612Glnfs*22) in PROSER1. This encodes the proline and serine rich protein 1, part of the histone methyltransferases KMT2C/KMT2D complexes. PROSER1 stabilizes TET2, a member of the TET family of DNA demethylases which is involved in recruiting the enhancer-associated KMT2C/KMT2D complexes and mediating DNA demethylation, activating gene expression. Therefore, PROSER1 may play vital and potentially general roles in gene regulation. No functional assays and 3 related families.
Sources: Literature
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 SPATA22 Chirag Patel Classified gene: SPATA22 as Amber List (moderate evidence)
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.297 SPATA22 Chirag Patel Gene: spata22 has been classified as Amber List (Moderate Evidence).
Primary Ovarian Insufficiency_Premature Ovarian Failure v0.296 SPATA22 Chirag Patel gene: SPATA22 was added
gene: SPATA22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Literature
Mode of inheritance for gene: SPATA22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA22 were set to PMID: 35285020
Phenotypes for gene: SPATA22 were set to Premature ovarian insufficiency and nonobstructive azoospermia, no OMIM #
Review for gene: SPATA22 was set to AMBER
Added comment: 1 consanguineous family with two premature ovarian insufficiency (POI) and two nonobstructive azoospermia (NOA) patients. WES identified a homozygous variant in SPATA22 (c.400C>T:p.R134X). Histological analysis and spermatocyte spreading assay demonstrated that the spermatogenesis was arrested at a zygotene-like stage in the proband with NOA.

2nd patient found with idiopathic POI and compound heterozygous variants in SPATA22 (c.900+1G>A and c.31C>T:p.R11X).
Sources: Literature
Eye Anterior Segment Abnormalities v1.2 SOX2 Chirag Patel Classified gene: SOX2 as Green List (high evidence)
Eye Anterior Segment Abnormalities v1.2 SOX2 Chirag Patel Gene: sox2 has been classified as Green List (High Evidence).
Eye Anterior Segment Abnormalities v1.1 SOX2 Chirag Patel gene: SOX2 was added
gene: SOX2 was added to Eye Anterior Segment Abnormalities. Sources: Literature
Mode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SOX2 were set to PMID: 35170016
Phenotypes for gene: SOX2 were set to Peters' anomaly, no OMIM #; Microphthalmia, syndromic 3, OMIM # 206900; Optic nerve hypoplasia and abnormalities of the central nervous system, OMIM # 206900
Review for gene: SOX2 was set to GREEN
Added comment: Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Microarray/WES/WGS in 95 individuals with PA found 4 unrelated patients with PA (isolated or with microphthalmia) with pathogenic variants in SOX2 gene.
Sources: Literature
Syndromic Retinopathy v0.195 RDH11 Chirag Patel Classified gene: RDH11 as Amber List (moderate evidence)
Syndromic Retinopathy v0.195 RDH11 Chirag Patel Gene: rdh11 has been classified as Amber List (Moderate Evidence).
Syndromic Retinopathy v0.194 RDH11 Chirag Patel reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34988992; Phenotypes: ?Retinal dystrophy, juvenile cataracts, and short stature syndrome, OMIM # 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v1.29 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Arthrogryposis v0.342 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Arthrogryposis. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Callosome v0.444 USP14 Chirag Patel gene: USP14 was added
gene: USP14 was added to Callosome. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to PMID: 35066879
Phenotypes for gene: USP14 were set to Distal arthrogryposis, corpus callosum anomalies, and dysmorphic features; no OMIM #
Review for gene: USP14 was set to RED
Added comment: 3 fetuses from 2 different branches of a consanguineous family, presenting with distal arthrogryposis, underdevelopment of the corpus callosum, and dysmorphic facial features. Exome sequencing identified a biallelic 4-bp deletion (c.233_236delTTCC; p.Leu78Glnfs*11) in USP14, and sequencing of family members showed segregation with the phenotype. Ubiquitin-specific protease 14 (USP14) encodes a major proteasome-associated deubiquitinating enzyme with an established dual role as an inhibitor and an activator of proteolysis, maintaining protein homeostasis. Usp14-deficient mice show a phenotype similar to lethal human multiple congenital contractures phenotypes, with callosal anomalies, muscle wasting, and early lethality, attributed to neuromuscular junction defects due to decreased monomeric ubiquitin pool. RT-qPCR experiment in an unaffected heterozygote revealed that mutant USP14 was expressed, indicating that abnormal transcript escapes nonsense-mediated mRNA decay.
Sources: Literature
Mendeliome v0.14341 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Mendeliome v0.14341 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Mendeliome v0.14341 UGT1A1 Zornitza Stark Phenotypes for gene: UGT1A1 were changed from to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785
Mendeliome v0.14340 UGT1A1 Zornitza Stark Mode of inheritance for gene: UGT1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14339 UNC13D Zornitza Stark Marked gene: UNC13D as ready
Mendeliome v0.14339 UNC13D Zornitza Stark Gene: unc13d has been classified as Green List (High Evidence).
Mendeliome v0.14339 UNG Zornitza Stark Marked gene: UNG as ready
Mendeliome v0.14339 UNG Zornitza Stark Gene: ung has been classified as Green List (High Evidence).
Mendeliome v0.14339 UNG Zornitza Stark Phenotypes for gene: UNG were changed from to Immunodeficiency with hyper IgM, type 5, MIM#608106
Mendeliome v0.14338 UNG Zornitza Stark Publications for gene: UNG were set to
Mendeliome v0.14337 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Mendeliome v0.14337 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Mendeliome v0.14337 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824
Mendeliome v0.14336 UQCC2 Zornitza Stark Publications for gene: UQCC2 were set to
Mendeliome v0.14335 UQCC2 Zornitza Stark Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14334 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mendeliome v0.14334 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mendeliome v0.14334 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mendeliome v0.14333 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mendeliome v0.14332 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14331 UROD Zornitza Stark Marked gene: UROD as ready
Mendeliome v0.14331 UROD Zornitza Stark Gene: urod has been classified as Green List (High Evidence).
Mendeliome v0.14331 UROD Zornitza Stark Phenotypes for gene: UROD were changed from to Porphyria cutanea tarda; Porphyria, hepatoerythropoietic (MIM#176100)
Mendeliome v0.14330 UROD Zornitza Stark Publications for gene: UROD were set to
Mendeliome v0.14329 UROD Zornitza Stark Mode of inheritance for gene: UROD was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mendeliome v0.14328 MAGED2 Zornitza Stark Marked gene: MAGED2 as ready
Mendeliome v0.14328 MAGED2 Zornitza Stark Gene: maged2 has been classified as Green List (High Evidence).
Mendeliome v0.14328 MAGED2 Zornitza Stark Phenotypes for gene: MAGED2 were changed from to Bartter syndrome, type 5, antenatal, transient, MIM# 300971
Mendeliome v0.14327 MAGED2 Zornitza Stark Publications for gene: MAGED2 were set to
Mendeliome v0.14326 MAGED2 Zornitza Stark Mode of inheritance for gene: MAGED2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14325 MAGED2 Zornitza Stark reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120771; Phenotypes: Bartter syndrome, type 5, antenatal, transient, MIM# 300971; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14325 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mendeliome v0.14325 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.807 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to 29576219
Mendeliome v0.14325 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mendeliome v0.14324 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mitochondrial disease v0.806 MRPS2 Zornitza Stark commented on gene: MRPS2: PMID 34991560: third family.
Mitochondrial disease v0.806 MRPS2 Zornitza Stark edited their review of gene: MRPS2: Changed publications: 29576219, 34991560
Mendeliome v0.14323 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14322 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219, 34991560; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14322 MSH3 Zornitza Stark Marked gene: MSH3 as ready
Mendeliome v0.14322 MSH3 Zornitza Stark Gene: msh3 has been classified as Green List (High Evidence).
Mendeliome v0.14322 MSH3 Zornitza Stark Phenotypes for gene: MSH3 were changed from to Familial adenomatous polyposis 4 , MIM#617100
Mendeliome v0.14321 MSH3 Zornitza Stark Publications for gene: MSH3 were set to
Mendeliome v0.14320 MSH3 Zornitza Stark Mode of inheritance for gene: MSH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14319 MSH3 Zornitza Stark reviewed gene: MSH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476653, 10706084, 34843512; Phenotypes: Familial adenomatous polyposis 4 , MIM#617100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14319 MSRB3 Zornitza Stark Marked gene: MSRB3 as ready
Mendeliome v0.14319 MSRB3 Zornitza Stark Gene: msrb3 has been classified as Green List (High Evidence).
Mendeliome v0.14319 MSRB3 Zornitza Stark Phenotypes for gene: MSRB3 were changed from to Deafness, autosomal recessive 74, MIM# 613718
Mendeliome v0.14318 MSRB3 Zornitza Stark Publications for gene: MSRB3 were set to
Mendeliome v0.14317 MSRB3 Zornitza Stark Mode of inheritance for gene: MSRB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14316 MSRB3 Zornitza Stark reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19650862, 24191262, 21185009; Phenotypes: Deafness, autosomal recessive 74, MIM# 613718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.133 MSRB3 Zornitza Stark edited their review of gene: MSRB3: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Deafness_IsolatedAndComplex v1.133 MSRB3 Zornitza Stark edited their review of gene: MSRB3: Changed rating: GREEN
Mendeliome v0.14316 MTAP Zornitza Stark Marked gene: MTAP as ready
Mendeliome v0.14316 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.174 MTAP Zornitza Stark Marked gene: MTAP as ready
Skeletal dysplasia v0.174 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.174 MTAP Zornitza Stark Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250 to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250
Skeletal dysplasia v0.173 MTAP Zornitza Stark Publications for gene: MTAP were set to
Skeletal dysplasia v0.172 MTAP Zornitza Stark Classified gene: MTAP as Amber List (moderate evidence)
Skeletal dysplasia v0.172 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Skeletal dysplasia v0.171 MTAP Zornitza Stark reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14316 MTAP Zornitza Stark Phenotypes for gene: MTAP were changed from to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250
Mendeliome v0.14315 MTAP Zornitza Stark Publications for gene: MTAP were set to
Mendeliome v0.14314 MTAP Zornitza Stark Mode of inheritance for gene: MTAP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14313 MTAP Zornitza Stark Classified gene: MTAP as Amber List (moderate evidence)
Mendeliome v0.14313 MTAP Zornitza Stark Gene: mtap has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14312 MTAP Zornitza Stark reviewed gene: MTAP: Rating: AMBER; Mode of pathogenicity: None; Publications: 22464254; Phenotypes: Diaphyseal medullary stenosis with malignant fibrous histiocytoma, MIM# 112250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.806 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Mitochondrial disease v0.806 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.806 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Mitochondrial disease v0.805 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Mitochondrial disease v0.804 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14312 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Mendeliome v0.14312 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Mendeliome v0.14312 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Mitochondrial disease v0.803 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.802 MTFMT Zornitza Stark reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14311 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Mendeliome v0.14310 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14309 MTFMT Zornitza Stark reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14309 MTHFD1 Zornitza Stark Marked gene: MTHFD1 as ready
Mendeliome v0.14309 MTHFD1 Zornitza Stark Gene: mthfd1 has been classified as Green List (High Evidence).
Mendeliome v0.14309 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Mendeliome v0.14308 MTHFD1 Zornitza Stark Phenotypes for gene: MTHFD1 were changed from to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780
Mendeliome v0.14307 MTHFD1 Zornitza Stark Publications for gene: MTHFD1 were set to
Mendeliome v0.14306 MTHFD1 Zornitza Stark Mode of inheritance for gene: MTHFD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14305 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Mendeliome v0.14305 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Mendeliome v0.14305 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport
Mendeliome v0.14304 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Mendeliome v0.14303 MTHFR Zornitza Stark Mode of inheritance for gene: MTHFR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14302 MTM1 Zornitza Stark Marked gene: MTM1 as ready
Mendeliome v0.14302 MTM1 Zornitza Stark Gene: mtm1 has been classified as Green List (High Evidence).
Mendeliome v0.14302 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from to Myopathy, centronuclear, X-linked, MIM# 310400
Mendeliome v0.14301 MTM1 Zornitza Stark Publications for gene: MTM1 were set to
Mendeliome v0.14300 MTM1 Zornitza Stark Mode of inheritance for gene: MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mendeliome v0.14299 MTM1 Zornitza Stark reviewed gene: MTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10790201; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.802 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Mitochondrial disease v0.802 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.802 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702
Intellectual disability syndromic and non-syndromic v0.4774 MTOR Zornitza Stark Marked gene: MTOR as ready
Intellectual disability syndromic and non-syndromic v0.4774 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4774 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Intellectual disability syndromic and non-syndromic v0.4773 MTOR Zornitza Stark Publications for gene: MTOR were set to
Mitochondrial disease v0.801 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Mitochondrial disease v0.800 MTO1 Zornitza Stark Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 MTO1 Zornitza Stark reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4772 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Mendeliome v0.14299 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Mendeliome v0.14299 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Mendeliome v0.14299 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702
Mendeliome v0.14298 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Mendeliome v0.14297 MTO1 Zornitza Stark Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14296 MTO1 Zornitza Stark reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4771 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability syndromic and non-syndromic v0.4770 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28892148, 25878179, 26018084; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638, Focal cortical dysplasia, type II, somatic, MIM# 607341, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14296 MTOR Zornitza Stark Mode of pathogenicity for gene: MTOR was changed from to Other
Mendeliome v0.14295 MTOR Zornitza Stark Marked gene: MTOR as ready
Mendeliome v0.14295 MTOR Zornitza Stark Gene: mtor has been classified as Green List (High Evidence).
Mendeliome v0.14295 MTOR Zornitza Stark Phenotypes for gene: MTOR were changed from to Smith-Kingsmore syndrome, MIM# 616638; Focal cortical dysplasia, type II, somatic, MIM# 607341; Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283
Mendeliome v0.14294 MTOR Zornitza Stark Publications for gene: MTOR were set to
Mendeliome v0.14293 MTOR Zornitza Stark Mode of inheritance for gene: MTOR was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14292 MTOR Zornitza Stark reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28892148, 25878179, 26018084; Phenotypes: Smith-Kingsmore syndrome, MIM# 616638, Focal cortical dysplasia, type II, somatic, MIM# 607341, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MONDO:0100283; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v1.28 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome, MONDO:0018921 to Meckel syndrome 14, MIM# 619879
Fetal anomalies v1.27 TXNDC15 Zornitza Stark edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879
Renal Ciliopathies and Nephronophthisis v1.10 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Renal Ciliopathies and Nephronophthisis v1.9 TXNDC15 Zornitza Stark edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879
Mendeliome v0.14292 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Mendeliome v0.14291 TXNDC15 Zornitza Stark edited their review of gene: TXNDC15: Changed phenotypes: Meckel syndrome 14, MIM# 619879
Joubert syndrome and other neurological ciliopathies v1.22 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Joubert syndrome and other neurological ciliopathies v1.21 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Ciliopathies v1.28 TXNDC15 Zornitza Stark Phenotypes for gene: TXNDC15 were changed from Meckel-Gruber syndrome to Meckel syndrome 14, MIM# 619879
Ciliopathies v1.27 TXNDC15 Zornitza Stark reviewed gene: TXNDC15: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 14, MIM# 619879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNASE1 Krithika Murali reviewed gene: DNASE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Systemic lupus erythematosus, susceptibility to} - MIM#152700; Mode of inheritance: None
Mendeliome v0.14291 DNAJC6 Krithika Murali reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22563501, 23211418, 26528954; Phenotypes: Parkinson disease 19a, juvenile-onset - MIM#615528, Parkinson disease 19b, early-onset - MIM#615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNAJC5 Krithika Murali reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22978711, 21820099, 22235333, 31919451, 26659577; Phenotypes: Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant - MIM#162350, ceroid lipofuscinosis, neuronal, 4 (Kufs type) - MONDO:0008083; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 DNAJC3 Krithika Murali changed review comment from: Well-established association with monogenic diabetes with growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).; to: Well-established association with monogenic diabetes. Growth restriction, hypothyroidism, neuropathy, sensorineural hearing loss and cerebellar ataxia also reported in affected individuals (PMID 33486469 Lytrvi et al 2021 report 2 additional families and summarise the phenotypic features of 4 previously reported families).
Mendeliome v0.14291 DNAJC3 Krithika Murali reviewed gene: DNAJC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33486469, 34630333, 34654017, 32738013; Phenotypes: ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus - MIM#616192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DNAJC21 Krithika Murali reviewed gene: DNAJC21: Rating: GREEN; Mode of pathogenicity: None; Publications: 29700810, 28062395, 27346687; Phenotypes: Bone marrow failure syndrome 3 - MIM#617052; Mode of inheritance: None
Mendeliome v0.14291 DNASE1L3 Krithika Murali reviewed gene: DNASE1L3: Rating: ; Mode of pathogenicity: None; Publications: 30008451, 22019780, 27821515; Phenotypes: Systemic lupus erythematosus 16 - MIM#614420; Mode of inheritance: None
Mendeliome v0.14291 DNM1L Krithika Murali reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 (AD, AR), Optic atrophy 5 - MIM#610708 (AD); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14291 DPY19L2 Krithika Murali reviewed gene: DPY19L2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 9 - MIM#613958; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14291 DRAM2 Krithika Murali reviewed gene: DRAM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25983245, 29555955, 31394102; Phenotypes: Cone-rod dystrophy 21 - MIM#616502; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Regression v0.475 DRD2 Krithika Murali reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14291 DRD2 Krithika Murali reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mendeliome v0.14291 DRD3 Krithika Murali reviewed gene: DRD3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Essential tremor, hereditary, 1} - MIM#190300, {Schizophrenia, susceptibility to} - MIM#181500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 DSCAM Krithika Murali Deleted their comment
Mendeliome v0.14291 DSCAM Krithika Murali edited their review of gene: DSCAM: Added comment: No OMIM gene disease association. Variants predominantly identified from large cohort studies with limited phenotypic information. Associations with ID, ASD, Hirschsprung disease reported. One homozygous splice site variant reported with no parental phenotypes provided.

PMID 34253863 Lim et al 2021 - 12 yo proband with severe autism spectrum disorder diagnosed age 3, de novo heterozygous c.2051 del p.(L684X) variant identified (absent from gnomAD). Skin fibroblast human iPSC cells generated from proband and healthy controls. Forebrain-like induced neuronal cells showed reduced mRNA expression for NMDA-R subunits.

PMID 28600779 Monies et al 2017 - Homozygous splice site variant identified in proband from consanguineous Saudi family. Proband had growth restriction, microcephaly, developmental delay. Parental phenotype not provided.

PMID 30095639 and PMID 23671607 - report association between DSCAM polymorphisms and Hirschsprung disease in Chinese and European populations.

PMID 27824329 Wang et al 2016 - 2 denovo mutations in mixed ID/ASD cohort of 1,045; including comparison of previously published cases 6 LOF out of 4,998 cases.

PMID 28191889 2 denovo LOF in 13,407 mixed ID/ASD cases plus 4 previosly published cases our ot 6158; conclude denovo LOF enriched in cases vs controls

PMID 21904980; mouse model – het LOF mice show hydrocephalus, decreased motor function and impaired motor learning ability,

Evidence for missense lacking currently; Changed publications: 34253863, 32807774, 28600779, 21904980, 28191889, 27824329, 30095639, 23671607
Mendeliome v0.14291 DSCAM Krithika Murali reviewed gene: DSCAM: Rating: AMBER; Mode of pathogenicity: None; Publications: 34253863, 32807774, 28600779; Phenotypes: Autism, ID; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14291 MTTP Zornitza Stark Marked gene: MTTP as ready
Mendeliome v0.14291 MTTP Zornitza Stark Gene: mttp has been classified as Green List (High Evidence).
Mendeliome v0.14291 MTTP Zornitza Stark Phenotypes for gene: MTTP were changed from to Abetalipoproteinaemia, MIM# 200100
Mendeliome v0.14290 MTTP Zornitza Stark Publications for gene: MTTP were set to
Mendeliome v0.14289 MTTP Zornitza Stark Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14288 MTTP Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380, 34078172, 34052173, 33258201; Phenotypes: Abetalipoproteinaemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14288 MUT Zornitza Stark Marked gene: MUT as ready
Mendeliome v0.14288 MUT Zornitza Stark Gene: mut has been classified as Green List (High Evidence).
Mendeliome v0.14288 MUT Zornitza Stark Phenotypes for gene: MUT were changed from to Methylmalonic aciduria, mut(0) type, MIM# 251000
Mendeliome v0.14287 MUT Zornitza Stark Publications for gene: MUT were set to
Mendeliome v0.14286 MUT Zornitza Stark Mode of inheritance for gene: MUT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14285 MUT Zornitza Stark reviewed gene: MUT: Rating: GREEN; Mode of pathogenicity: None; Publications: 1977311, 11528502, 12948746; Phenotypes: Methylmalonic aciduria, mut(0) type, MIM# 251000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14285 MVK Zornitza Stark Marked gene: MVK as ready
Mendeliome v0.14285 MVK Zornitza Stark Gene: mvk has been classified as Green List (High Evidence).
Mendeliome v0.14285 MVK Zornitza Stark Phenotypes for gene: MVK were changed from to Mevalonic aciduria MIM# 610377
Mendeliome v0.14284 MVK Zornitza Stark Publications for gene: MVK were set to
Mendeliome v0.14283 MVK Zornitza Stark Mode of inheritance for gene: MVK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14282 MVK Zornitza Stark reviewed gene: MVK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mevalonic aciduria MIM#610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14282 MXI1 Zornitza Stark Marked gene: MXI1 as ready
Mendeliome v0.14282 MXI1 Zornitza Stark Gene: mxi1 has been classified as Red List (Low Evidence).
Mendeliome v0.14282 MXI1 Zornitza Stark Classified gene: MXI1 as Red List (low evidence)
Mendeliome v0.14282 MXI1 Zornitza Stark Gene: mxi1 has been classified as Red List (Low Evidence).
Mendeliome v0.14281 MXI1 Zornitza Stark reviewed gene: MXI1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Defects of intrinsic and innate immunity v0.109 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from to Immunodeficiency 68, MIM# 612260
Defects of intrinsic and innate immunity v0.108 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Defects of intrinsic and innate immunity v0.107 MYD88 Zornitza Stark Mode of inheritance for gene: MYD88 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Defects of intrinsic and innate immunity v0.106 MYD88 Zornitza Stark reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14281 MYD88 Zornitza Stark Marked gene: MYD88 as ready
Mendeliome v0.14281 MYD88 Zornitza Stark Gene: myd88 has been classified as Green List (High Evidence).
Mendeliome v0.14281 MYD88 Zornitza Stark Phenotypes for gene: MYD88 were changed from to Immunodeficiency 68, MIM# 612260
Mendeliome v0.14280 MYD88 Zornitza Stark Publications for gene: MYD88 were set to
Mendeliome v0.14279 MYD88 Zornitza Stark Mode of inheritance for gene: MYD88 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14278 MYD88 Zornitza Stark reviewed gene: MYD88: Rating: GREEN; Mode of pathogenicity: None; Publications: 18669862, 20538326, 31301515; Phenotypes: Immunodeficiency 68, MIM# 612260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14278 MYH14 Zornitza Stark Marked gene: MYH14 as ready
Mendeliome v0.14278 MYH14 Zornitza Stark Gene: myh14 has been classified as Green List (High Evidence).
Mendeliome v0.14278 MYH14 Zornitza Stark Phenotypes for gene: MYH14 were changed from to Deafness, autosomal dominant 4A, MIM# 600652; Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369
Mendeliome v0.14277 MYH14 Zornitza Stark Publications for gene: MYH14 were set to
Mendeliome v0.14276 MYH14 Zornitza Stark Mode of inheritance for gene: MYH14 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14275 MYH14 Zornitza Stark reviewed gene: MYH14: Rating: GREEN; Mode of pathogenicity: None; Publications: 15015131, 25719458, 31045651, 28221712, 34681017, 21480433, 31653586, 31631044, 31231018; Phenotypes: Deafness, autosomal dominant 4A, MIM# 600652, Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14275 MYH3 Zornitza Stark Marked gene: MYH3 as ready
Mendeliome v0.14275 MYH3 Zornitza Stark Gene: myh3 has been classified as Green List (High Evidence).
Mendeliome v0.14275 MYH3 Zornitza Stark Phenotypes for gene: MYH3 were changed from to Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700; Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436; Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110; Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469
Mendeliome v0.14274 MYH3 Zornitza Stark Publications for gene: MYH3 were set to
Mendeliome v0.14273 MYH3 Zornitza Stark Mode of inheritance for gene: MYH3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14272 MYH3 Zornitza Stark reviewed gene: MYH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25957469, 26544689, 21531865, 18695058; Phenotypes: Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700, Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436, Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110, Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14272 MYO1E Zornitza Stark Marked gene: MYO1E as ready
Mendeliome v0.14272 MYO1E Zornitza Stark Gene: myo1e has been classified as Green List (High Evidence).
Proteinuria v0.200 MYO1E Zornitza Stark Marked gene: MYO1E as ready
Proteinuria v0.200 MYO1E Zornitza Stark Gene: myo1e has been classified as Green List (High Evidence).
Proteinuria v0.200 MYO1E Zornitza Stark Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6, MIM# 614131
Mendeliome v0.14272 MYO1E Zornitza Stark Phenotypes for gene: MYO1E were changed from to Glomerulosclerosis, focal segmental, 6, MIM# 614131
Proteinuria v0.199 MYO1E Zornitza Stark Publications for gene: MYO1E were set to
Proteinuria v0.198 MYO1E Zornitza Stark Mode of inheritance for gene: MYO1E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Proteinuria v0.197 MYO1E Zornitza Stark reviewed gene: MYO1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21756023, 31520189, 25739341, 23977349; Phenotypes: Glomerulosclerosis, focal segmental, 6, MIM# 614131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14271 MYO1E Zornitza Stark Publications for gene: MYO1E were set to
Mendeliome v0.14270 MYO1E Zornitza Stark Mode of inheritance for gene: MYO1E was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14269 MYO1E Zornitza Stark reviewed gene: MYO1E: Rating: GREEN; Mode of pathogenicity: None; Publications: 21756023, 31520189, 25739341, 23977349; Phenotypes: Glomerulosclerosis, focal segmental, 6, MIM# 614131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Osteogenesis Imperfecta and Osteoporosis v0.84 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV, MIM# 615220
Osteogenesis Imperfecta and Osteoporosis v0.83 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Osteogenesis Imperfecta and Osteoporosis v0.82 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Osteogenesis Imperfecta and Osteoporosis v0.81 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23499309, 23499310, 23656646, 26671912; Phenotypes: Osteogenesis imperfecta, type XV, MIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14269 WNT1 Zornitza Stark Marked gene: WNT1 as ready
Mendeliome v0.14269 WNT1 Zornitza Stark Gene: wnt1 has been classified as Green List (High Evidence).
Mendeliome v0.14269 WNT1 Zornitza Stark Phenotypes for gene: WNT1 were changed from to Osteogenesis imperfecta, type XV, MIM# 615220
Mendeliome v0.14268 WNT1 Zornitza Stark Publications for gene: WNT1 were set to
Mendeliome v0.14267 WNT1 Zornitza Stark Mode of inheritance for gene: WNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14266 WNT1 Zornitza Stark reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23499309, 23499310, 23656646, 26671912; Phenotypes: Osteogenesis imperfecta, type XV, MIM# 615220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14266 WNK4 Zornitza Stark Marked gene: WNK4 as ready
Mendeliome v0.14266 WNK4 Zornitza Stark Gene: wnk4 has been classified as Green List (High Evidence).
Mendeliome v0.14266 WNK4 Zornitza Stark Phenotypes for gene: WNK4 were changed from to Pseudohypoaldosteronism, type IIB, MIM# 614491
Mendeliome v0.14265 WNK4 Zornitza Stark Publications for gene: WNK4 were set to
Mendeliome v0.14264 WNK4 Zornitza Stark Mode of inheritance for gene: WNK4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14263 WNK4 Zornitza Stark reviewed gene: WNK4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22266938, 31044551; Phenotypes: Pseudohypoaldosteronism, type IIB, MIM# 614491; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14263 WNK1 Zornitza Stark Marked gene: WNK1 as ready
Mendeliome v0.14263 WNK1 Zornitza Stark Gene: wnk1 has been classified as Green List (High Evidence).
Mendeliome v0.14263 WNK1 Zornitza Stark Phenotypes for gene: WNK1 were changed from to Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300; MONDO:0024309; Pseudohypoaldosteronism, type IIC, MIM# 614492
Mendeliome v0.14262 WNK1 Zornitza Stark Publications for gene: WNK1 were set to
Mendeliome v0.14261 WNK1 Zornitza Stark Mode of inheritance for gene: WNK1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14260 WNK1 Zornitza Stark changed review comment from: Well established gene-disease association.

Note mono-allelic variants are associated with pseudohypoaldosteronism; to: Well established gene-disease associations.
Mendeliome v0.14260 WNK1 Zornitza Stark edited their review of gene: WNK1: Changed phenotypes: Neuropathy, hereditary sensory and autonomic, type II, MIM# 201300, MONDO:0024309, Pseudohypoaldosteronism, type IIC, MIM# 614492; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14260 WDR4 Zornitza Stark Marked gene: WDR4 as ready
Mendeliome v0.14260 WDR4 Zornitza Stark Gene: wdr4 has been classified as Green List (High Evidence).
Mendeliome v0.14260 WDR4 Zornitza Stark Phenotypes for gene: WDR4 were changed from to Galloway-Mowat syndrome 6, OMIM #618347; Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346
Mendeliome v0.14259 WDR4 Zornitza Stark Publications for gene: WDR4 were set to
Mendeliome v0.14258 WDR4 Zornitza Stark Mode of inheritance for gene: WDR4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14257 WDR4 Zornitza Stark reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 26416026, 30079490, 29597095, 28617965; Phenotypes: Galloway-Mowat syndrome 6, OMIM #618347, Microcephaly, growth deficiency, seizures, and brain malformations, OMIM #618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14257 WDR36 Zornitza Stark Classified gene: WDR36 as Amber List (moderate evidence)
Mendeliome v0.14257 WDR36 Zornitza Stark Gene: wdr36 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14256 WDR36 Zornitza Stark changed review comment from: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.; to: Multiple individuals reported. Adult-onset.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.
Mendeliome v0.14256 WDR36 Zornitza Stark edited their review of gene: WDR36: Changed rating: AMBER
Mendeliome v0.14256 WDR36 Zornitza Stark edited their review of gene: WDR36: Changed publications: 15677485, 18172102, 20813748, 34681019, 29540704
Mendeliome v0.14256 WDR36 Zornitza Stark changed review comment from: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad.; to: Multiple individuals reported.

However, note one of the earliest reported variants p.Asp658Gly is present in >1,000 individuals in gnomad, and another, p.Ala449Thr is present in >2000.
Mendeliome v0.14256 WDR36 Zornitza Stark Marked gene: WDR36 as ready
Mendeliome v0.14256 WDR36 Zornitza Stark Gene: wdr36 has been classified as Green List (High Evidence).
Mendeliome v0.14256 WDR36 Zornitza Stark Phenotypes for gene: WDR36 were changed from to Glaucoma 1, open angle, G, MIM# 609887
Mendeliome v0.14255 WDR36 Zornitza Stark Publications for gene: WDR36 were set to
Mendeliome v0.14254 WDR36 Zornitza Stark Mode of inheritance for gene: WDR36 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14253 WDR36 Zornitza Stark reviewed gene: WDR36: Rating: GREEN; Mode of pathogenicity: None; Publications: 15677485, 18172102, 20813748; Phenotypes: Glaucoma 1, open angle, G, MIM# 609887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14253 WASHC5 Zornitza Stark Marked gene: WASHC5 as ready
Mendeliome v0.14253 WASHC5 Zornitza Stark Gene: washc5 has been classified as Green List (High Evidence).
Mendeliome v0.14253 WASHC5 Zornitza Stark Phenotypes for gene: WASHC5 were changed from to Ritscher-Schinzel syndrome 1, MIM# 220210; Spastic paraplegia 8, autosomal dominant, MIM# 603563
Mendeliome v0.14252 WASHC5 Zornitza Stark Publications for gene: WASHC5 were set to
Mendeliome v0.14251 WASHC5 Zornitza Stark Mode of inheritance for gene: WASHC5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14250 WASHC5 Zornitza Stark reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17160902, 23455931, 30778698, 24065355, 33456446; Phenotypes: Ritscher-Schinzel syndrome 1, MIM# 220210, Spastic paraplegia 8, autosomal dominant, MIM# 603563; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4770 WASF1 Zornitza Stark Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Intellectual disability syndromic and non-syndromic v0.4769 WASF1 Zornitza Stark Publications for gene: WASF1 were set to PMID: 29961568
Mendeliome v0.14250 WASF1 Zornitza Stark Marked gene: WASF1 as ready
Mendeliome v0.14250 WASF1 Zornitza Stark Gene: wasf1 has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4768 WASF1 Zornitza Stark reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961568, 34845217, 34478686, 34356165; Phenotypes: Neurodevelopmental disorder with absent language and variable seizures , MIM#618707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14250 WASF1 Zornitza Stark Phenotypes for gene: WASF1 were changed from to Neurodevelopmental disorder with absent language and variable seizures , MIM#618707
Mendeliome v0.14249 WASF1 Zornitza Stark Publications for gene: WASF1 were set to
Mendeliome v0.14248 WASF1 Zornitza Stark Mode of inheritance for gene: WASF1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14247 WASF1 Zornitza Stark reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961568, 34845217, 34478686, 34356165; Phenotypes: Neurodevelopmental disorder with absent language and variable seizures , MIM#618707; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14247 WAC Zornitza Stark Marked gene: WAC as ready
Mendeliome v0.14247 WAC Zornitza Stark Gene: wac has been classified as Green List (High Evidence).
Mendeliome v0.14247 WAC Zornitza Stark Phenotypes for gene: WAC were changed from to Desanto-Shinawi syndrome, MIM# 616708
Mendeliome v0.14246 WAC Zornitza Stark Publications for gene: WAC were set to
Mendeliome v0.14245 WAC Zornitza Stark Mode of inheritance for gene: WAC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14244 WAC Zornitza Stark reviewed gene: WAC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26264232, 25356899, 35266333; Phenotypes: Desanto-Shinawi syndrome, MIM# 616708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.799 RNASEH1 Belinda Chong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14244 RNASEH1 Belinda Chong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14244 FXYD2 Bryony Thompson Marked gene: FXYD2 as ready
Mendeliome v0.14244 FXYD2 Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14244 FXYD2 Bryony Thompson Phenotypes for gene: FXYD2 were changed from to Renal hypomagnesemia 2 MONDO:0007937
Mendeliome v0.14243 FXYD2 Bryony Thompson Publications for gene: FXYD2 were set to
Mendeliome v0.14242 FXYD2 Bryony Thompson Mode of pathogenicity for gene: FXYD2 was changed from to Other
Mendeliome v0.14241 FXYD2 Bryony Thompson Mode of inheritance for gene: FXYD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14240 FXYD2 Bryony Thompson Classified gene: FXYD2 as Amber List (moderate evidence)
Mendeliome v0.14240 FXYD2 Bryony Thompson Gene: fxyd2 has been classified as Amber List (Moderate Evidence).
Mendeliome v0.14239 FXYD2 Bryony Thompson reviewed gene: FXYD2: Rating: AMBER; Mode of pathogenicity: Other; Publications: 17980699, 12763862, 18448590, 11062458, 25765846, 27014088; Phenotypes: Renal hypomagnesemia 2 MONDO:0007937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Marked gene: RIPPLY2 as ready
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.171 RIPPLY2 Zornitza Stark Phenotypes for gene: RIPPLY2 were changed from Spondylocostal dysostosis 6 - 616566 to Spondylocostal dysostosis 6, MIM# 616566
Skeletal dysplasia v0.170 RIPPLY2 Zornitza Stark Publications for gene: RIPPLY2 were set to 25343988; 26238661
Skeletal dysplasia v0.169 RIPPLY2 Zornitza Stark Mode of inheritance for gene: RIPPLY2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Classified gene: RIPPLY2 as Green List (high evidence)
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Classified gene: RIPPLY2 as Green List (high evidence)
Skeletal dysplasia v0.168 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Marked gene: RIPPLY2 as ready
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Gene: ripply2 has been classified as Green List (High Evidence).
Skeletal dysplasia v0.167 RIPPLY2 Zornitza Stark reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14239 RIPPLY2 Zornitza Stark Phenotypes for gene: RIPPLY2 were changed from to Spondylocostal dysostosis 6, MIM# 616566
Mendeliome v0.14238 RIPPLY2 Zornitza Stark Publications for gene: RIPPLY2 were set to
Mendeliome v0.14237 RIPPLY2 Zornitza Stark Mode of inheritance for gene: RIPPLY2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14236 RIPPLY2 Zornitza Stark edited their review of gene: RIPPLY2: Changed rating: GREEN
Mendeliome v0.14236 RIPPLY2 Zornitza Stark reviewed gene: RIPPLY2: Rating: ; Mode of pathogenicity: None; Publications: 25343988, 33410135, 32212228, 29761784; Phenotypes: Spondylocostal dysostosis 6, MIM# 616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mendeliome v0.14236 FXN Bryony Thompson Marked gene: FXN as ready
Mendeliome v0.14236 FXN Bryony Thompson Gene: fxn has been classified as Green List (High Evidence).
Mendeliome v0.14236 MYOC Zornitza Stark Marked gene: MYOC as ready
Mendeliome v0.14236 MYOC Zornitza Stark Gene: myoc has been classified as Green List (High Evidence).
Mendeliome v0.14236 MYOC Zornitza Stark Phenotypes for gene: MYOC were changed from to Glaucoma 1A, primary open angle, MIM# 137750
Mendeliome v0.14235 MYOC Zornitza Stark Publications for gene: MYOC were set to
Mendeliome v0.14234 MYOC Zornitza Stark Mode of inheritance for gene: MYOC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14233 MYOC Zornitza Stark reviewed gene: MYOC: Rating: GREEN; Mode of pathogenicity: None; Publications: 9005853, 9535666, 15108121; Phenotypes: Glaucoma 1A, primary open angle, MIM# 137750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mendeliome v0.14233 MYOCD Zornitza Stark Mode of inheritance for gene: MYOCD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mendeliome v0.14232 MYOCD Zornitza Stark edited their review of gene: MYOCD: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal