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Prepair 500+ v1.1145 SLC12A6 Zornitza Stark Phenotypes for gene: SLC12A6 were changed from Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) to Agenesis of the corpus callosum with peripheral neuropathy, MIM#218000
Prepair 500+ v1.1143 TMEM216 Zornitza Stark Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2, 608091 (3) to Joubert syndrome 2, MIM#608091; Meckel syndrome 2, MIM#603194; Retinitis pigmentosa 98, MIM#620996; ciliopathy MONDO:0005308
Prepair 500+ v1.1139 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3) to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM#609560
Prepair 500+ v1.1137 THOC2 Zornitza Stark Marked gene: THOC2 as ready
Prepair 500+ v1.1137 THOC2 Zornitza Stark Gene: thoc2 has been classified as Green List (High Evidence).
Prepair 500+ v1.1137 THOC2 Zornitza Stark Phenotypes for gene: THOC2 were changed from Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive to Intellectual developmental disorder, X-linked 12 MIM#300957
Prepair 500+ v1.1136 THOC2 Zornitza Stark Publications for gene: THOC2 were set to
Prepair 500+ v1.1135 TH Zornitza Stark Marked gene: TH as ready
Prepair 500+ v1.1135 TH Zornitza Stark Gene: th has been classified as Green List (High Evidence).
Prepair 500+ v1.1135 TH Zornitza Stark Phenotypes for gene: TH were changed from Segawa syndrome, recessive, MIM# 605407 to Segawa syndrome, recessive, MIM# 605407
Prepair 500+ v1.1134 TGM1 Zornitza Stark Phenotypes for gene: TGM1 were changed from Ichthyosis, congenital, autosomal recessive 1, 242300 (3) to Ichthyosis, congenital, autosomal recessive 1, MIM#242300
Prepair 500+ v1.1121 TBCE Zornitza Stark Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460
Prepair 500+ v1.1119 TBCD Zornitza Stark Phenotypes for gene: TBCD were changed from Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, MIM#617193
Prepair 500+ v1.1117 TBC1D24 Zornitza Stark Phenotypes for gene: TBC1D24 were changed from Epileptic encephalopathy, early infantile, 16, 615338 (3) to Developmental and epileptic encephalopathy 16 MIM#615338; DOORS syndrome MIM#220500; Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp MIM#608105; Myoclonic epilepsy, infantile, familial MIM#605021
Prepair 500+ v1.1114 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome, MIM#302060
Prepair 500+ v1.1110 TANGO2 Zornitza Stark Phenotypes for gene: TANGO2 were changed from Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878
Prepair 500+ v1.1109 SYN1 Zornitza Stark Phenotypes for gene: SYN1 were changed from Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3) to Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders, MIM#300491; Intellectual developmental disorder, X-linked 50, MIM#300115
Prepair 500+ v1.1101 STXBP2 Zornitza Stark Phenotypes for gene: STXBP2 were changed from Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3) to Haemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease MIM#613101
Prepair 500+ v1.1091 SPINK5 Zornitza Stark Phenotypes for gene: SPINK5 were changed from Netherton syndrome, 256500 (3) to Netherton syndrome, MIM#256500
Prepair 500+ v1.1090 SPATA5 Zornitza Stark Phenotypes for gene: SPATA5 were changed from Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, MIM# 616577
Prepair 500+ v1.1088 SNAP29 Zornitza Stark Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3) to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)
Prepair 500+ v1.1066 SLC39A4 Zornitza Stark Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100
Prepair 500+ v1.1064 SLC38A8 Zornitza Stark Phenotypes for gene: SLC38A8 were changed from Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3) to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis (MIM#609218)
Prepair 500+ v1.1060 SLC35A3 Zornitza Stark Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures (MIM615553) to Arthrogryposis, impaired intellectual development, and seizures MIM#615553
Prepair 500+ v1.1056 SLC25A15 Zornitza Stark Phenotypes for gene: SLC25A15 were changed from Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome MIM#238970
Prepair 500+ v1.1052 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3) to Combined D-2- and L-2-hydroxyglutaric aciduria, MIM#615182; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197
Prepair 500+ v1.1048 SLC1A4 Zornitza Stark Phenotypes for gene: SLC1A4 were changed from Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3) to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM# 616657
Prepair 500+ v1.1046 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3) to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Prepair 500+ v1.1044 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from Thiamine-responsive megaloblastic anemia syndrome, 249270 (3) to Thiamine-responsive megaloblastic anemia syndrome, MIM#249270
Prepair 500+ v1.1034 SH3TC2 Zornitza Stark Phenotypes for gene: SH3TC2 were changed from Charcot-Marie-Tooth disease, type 4C, 601596 (3) to Charcot-Marie-Tooth disease, type 4C MIM#601596
Prepair 500+ v1.1023 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3) to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Prepair 500+ v1.1019 SEC23B Zornitza Stark Phenotypes for gene: SEC23B were changed from Dyserythropoietic anemia, congenital, type II, 224100 (3) to Dyserythropoietic anemia, congenital, type II MIM#224100
Prepair 500+ v1.1015 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) to Mitochondrial complex IV deficiency, nuclear type 2 MIM#604377
Prepair 500+ v1.1013 SC5D Zornitza Stark Phenotypes for gene: SC5D were changed from Lathosterolosis, 607330 (3) to Lathosterolosis, MIM#607330
Prepair 500+ v1.1008 RYR1 Zornitza Stark Phenotypes for gene: RYR1 were changed from Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000 to Central core disease (MIM#117000); Minicore myopathy with external ophthalmoplegia (MIM#255320); Neuromuscular disease, congenital, with uniform type 1 fiber (MIM#117000)
Prepair 500+ v1.1005 RPS6KA3 Zornitza Stark Mode of inheritance for gene: RPS6KA3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 500+ v1.1002 RPGRIP1L Zornitza Stark Phenotypes for gene: RPGRIP1L were changed from Meckel syndrome 5, 611561 (3) to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Ciliopathy, RPGRIP1L-related, MONDO:0005308
Prepair 500+ v1.993 RNASEH2A Zornitza Stark Phenotypes for gene: RNASEH2A were changed from Aicardi-Goutieres syndrome 4, 610333 (3) to Aicardi-Goutieres syndrome 4 MIM#610333; RNASEH2A-related type 1 interferonopathy MONDO:0700259
Prepair 500+ v1.991 RMRP Zornitza Stark Phenotypes for gene: RMRP were changed from Cartilage-hair hypoplasia, 250250 (3) to Cartilage-hair hypoplasia MIM#250250; Anauxetic dysplasia 1, MIM#607095; Metaphyseal dysplasia without hypotrichosis MIM#250460
Prepair 500+ v1.983 RAX Zornitza Stark Phenotypes for gene: RAX were changed from Microphthalmia, isolated 3, 611038 (3) to Microphthalmia, syndromic 16, MIM #611038
Prepair 500+ v1.979 RAPSN Zornitza Stark Phenotypes for gene: RAPSN were changed from Fetal akinesia deformation sequence, 208150 (3) to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency MIM#616326; Fetal akinesia deformation sequence 2 MIM#618388
Prepair 500+ v1.977 RAG2 Zornitza Stark Phenotypes for gene: RAG2 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Combined cellular and humoral immune defects with granulomas (MIM#233650); Omenn syndrome (MIM#603554); Severe combined immunodeficiency, B cell-negative (MIM#601457)
Prepair 500+ v1.976 RAG1 Zornitza Stark Phenotypes for gene: RAG1 were changed from Severe combined immunodeficiency, B cell-negative, 601457 (3) to Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889; Combined cellular and humoral immune defects with granulomas MIM# 233650; Omenn syndrome MIM# 603554; Severe combined immunodeficiency, B cell-negative MIM# 601457
Prepair 500+ v1.963 TMEM67 Seb Lunke Phenotypes for gene: TMEM67 were changed from Joubert syndrome 6, 610688 (3) to COACH syndrome 1 MIM#216360; Joubert syndrome 6 MIM#610688; Meckel syndrome 3 MIM#607361; Nephronophthisis 11 MIM#613550
Prepair 500+ v1.955 TRDN Seb Lunke Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3) to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441; Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990
Prepair 500+ v1.946 TRMU Seb Lunke Phenotypes for gene: TRMU were changed from Liver failure, transient infantile, 613070 (3) to Liver failure, transient infantile MIM# 613070; acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0013111
Prepair 500+ v1.936 TSHB Seb Lunke Phenotypes for gene: TSHB were changed from Hypothryoidism, congenital, nongoitrous 4, 275100 (3) to Hypothyroidism, congenital, nongoitrous 4 MIM#275100
Prepair 500+ v1.929 TTPA Seb Lunke Phenotypes for gene: TTPA were changed from Ataxia with isolated vitamin E deficiency, 277460 (3) to Ataxia with isolated vitamin E deficiency MIM#277460
Prepair 500+ v1.917 UBA5 Seb Lunke Phenotypes for gene: UBA5 were changed from Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive to Developmental and epileptic encephalopathy 44, MIM#617132
Prepair 500+ v1.895 USP9X Seb Lunke Mode of inheritance for gene: USP9X was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Prepair 500+ v1.894 VLDLR Seb Lunke Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3) to Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1, MIM#224050
Prepair 500+ v1.883 VRK1 Seb Lunke Phenotypes for gene: VRK1 were changed from Pontocerebellar hypoplasia type 1A, 607596 (3) to Pontocerebellar hypoplasia type 1A, MIM# 607596, MONDO:0011866; Neuronopathy, distal hereditary motor, autosomal recessive 10, MIM# 620542
Prepair 500+ v1.881 VSX2 Seb Lunke Phenotypes for gene: VSX2 were changed from Microphthalmia with coloboma 3, 610092 (3) to Microphthalmia with coloboma 3, MIM# 610092; Microphthalmia, isolated 2, MIM# 610093
Prepair 500+ v1.879 WAS Seb Lunke Phenotypes for gene: WAS were changed from Wiskott-Aldrich syndrome, 301000 (3) to Neutropenia, severe congenital, X-linked, MIM#300299; Thrombocytopenia, X-linked, MIM#313900; Wiskott-Aldrich syndrome, MIM#301000
Prepair 500+ v1.877 WDR34 Seb Lunke Phenotypes for gene: WDR34 were changed from Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3) to Short-rib thoracic dysplasia 11 with or without polydactyly MIM# 615633, MONDO:0014287
Prepair 500+ v1.875 WDR62 Seb Lunke Phenotypes for gene: WDR62 were changed from Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3) to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317
Prepair 500+ v1.873 WDR81 Seb Lunke Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3) to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 MIM#610185, MONDO:0012430; Hydrocephalus, congenital, 3, with brain anomalies MIM#617967, MONDO:0054794
Prepair 500+ v1.869 WISP3 Seb Lunke Phenotypes for gene: WISP3 were changed from Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3) to Progressive pseudorheumatoid dysplasia MIM#208230
Prepair 500+ v1.865 WWOX Seb Lunke Phenotypes for gene: WWOX were changed from Epileptic encephalopathy, early infantile, 28, 616211 (3) to Spinocerebellar ataxia, autosomal recessive 12, MIM# 614322; Developmental and epileptic encephalopathy 28, MIM# 616211
Prepair 500+ v1.858 YARS2 Seb Lunke Phenotypes for gene: YARS2 were changed from Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3) to Myopathy, lactic acidosis, and sideroblastic anemia 2 MIM#613561
Prepair 500+ v1.851 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Prepair 500+ v1.845 PRPS1 Zornitza Stark Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395
Prepair 500+ v1.833 POR Zornitza Stark Phenotypes for gene: POR were changed from Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (MIM#201750)
Prepair 500+ v1.831 POMT2 Zornitza Stark Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, MIM# 613150; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 2, MIM# 613156
Prepair 500+ v1.829 POMT1 Zornitza Stark Phenotypes for gene: POMT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3) to Myopathy caused by variation in POMT1 MONDO:0700070
Prepair 500+ v1.827 POMGNT1 Zornitza Stark Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#61315
Prepair 500+ v1.825 POLR3B Zornitza Stark Phenotypes for gene: POLR3B were changed from Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3) to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism,MIM#614381
Prepair 500+ v1.809 PKHD1 Zornitza Stark Phenotypes for gene: PKHD1 were changed from Polycystic kidney and hepatic disease, 263200 (3) to Polycystic kidney disease 4, with or without hepatic disease MIM#263200
Prepair 500+ v1.791 PGAP2 Zornitza Stark Phenotypes for gene: PGAP2 were changed from Hyperphosphatasia with mental retardation syndrome 3, 614207 (3) to Hyperphosphatasia with impaired intellectual development syndrome 3, MIM#614207
Prepair 500+ v1.753 PANK2 Zornitza Stark Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, MIM#234200 to HARP syndrome (MIM#607236); Neurodegeneration with brain iron accumulation 1 (MIM#234200)
Prepair 500+ v1.745 OTC Zornitza Stark Phenotypes for gene: OTC were changed from Ornithine transcarbamylase deficiency, 311250 (3) to Ornithine transcarbamylase deficiency, MIM# 311250
Prepair 500+ v1.741 OPHN1 Zornitza Stark Phenotypes for gene: OPHN1 were changed from Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3) to Intellectual developmental disorder, X-linked syndromic, Billuart type MIM#300486; X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0010337
Prepair 500+ v1.739 OPA3 Zornitza Stark Phenotypes for gene: OPA3 were changed from 3-methylglutaconic aciduria, type III, 258501 (3) to 3-methylglutaconic aciduria, type III MIM#258501; 3-methylglutaconic aciduria type 3 MONDO:0009787
Prepair 500+ v1.731 NTRK1 Zornitza Stark Phenotypes for gene: NTRK1 were changed from Insensitivity to pain, congenital, with anhidrosis, 256800 (3) to Insensitivity to pain, congenital, with anhidrosis MIM#256800
Prepair 500+ v1.723 NPHP3 Zornitza Stark Phenotypes for gene: NPHP3 were changed from Meckel syndrome 7, 267010 (3) to Renal-hepatic-pancreatic dysplasia 1 MIM#208540; Meckel syndrome 7 MIM#267010; Nephronophthisis 3 MIM#604387
Prepair 500+ v1.722 NPHP1 Zornitza Stark Phenotypes for gene: NPHP1 were changed from Joubert syndrome 4, 609583 (3) to Nephronophthisis 1, juvenile MIM#256100; Joubert syndrome 4 MIM#609583; Senior-Loken syndrome-1 MIM#266900
Prepair 500+ v1.720 NNT Zornitza Stark Phenotypes for gene: NNT were changed from Glucocorticoid deficiency 4, 614736 (3) to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; MONDO:0013874
Prepair 500+ v1.703 NDRG1 Zornitza Stark Phenotypes for gene: NDRG1 were changed from Charcot-Marie-Tooth disease, type 4D, 601455 (3) to Charcot-Marie-Tooth disease, type 4D MIM#601455
Prepair 500+ v1.700 NDE1 Zornitza Stark Phenotypes for gene: NDE1 were changed from Lissencephaly 4 (with microcephaly), 614019 (3) to Lissencephaly 4 (with microcephaly), MIM#614019
Prepair 500+ v1.692 NALCN Zornitza Stark Phenotypes for gene: NALCN were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3) to Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 (MIM#615419)
Prepair 500+ v1.690 NAGS Zornitza Stark Phenotypes for gene: NAGS were changed from N-acetylglutamate synthase deficiency, 237310 (3) to N-acetylglutamate synthase deficiency MIM#237310
Prepair 500+ v1.682 MYO5B Zornitza Stark Phenotypes for gene: MYO5B were changed from Microvillus inclusion disease, 251850 (3) to Cholestasis, progressive familial intrahepatic, 10, MIM#619868; Diarrhea 2, with microvillus atrophy, with or without cholestasis, MIM#251850
Prepair 500+ v1.678 MUT Zornitza Stark Phenotypes for gene: MUT were changed from Methylmalonic aciduria, mut(0) type, 251000 (3) to Methylmalonic aciduria, mut(0) type, MIM# 251000
Prepair 500+ v1.677 MUSK Zornitza Stark Phenotypes for gene: MUSK were changed from Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3) to Fetal akinesia deformation sequence 1 MIM#208150; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency MIM#616325
Prepair 500+ v1.669 MTMR2 Zornitza Stark Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382
Prepair 500+ v1.668 MTM1 Zornitza Stark Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 (3) to Myopathy, centronuclear, X-linked MIM#310400
Prepair 500+ v1.666 MTHFR Zornitza Stark Marked gene: MTHFR as ready
Prepair 500+ v1.666 MTHFR Zornitza Stark Gene: mthfr has been classified as Green List (High Evidence).
Prepair 500+ v1.666 MTHFR Zornitza Stark Phenotypes for gene: MTHFR were changed from Homocystinuria due to MTHFR deficiency, 236250 (3) to Homocystinuria due to MTHFR deficiency, MIM# 236250
Prepair 500+ v1.665 MTHFR Zornitza Stark Publications for gene: MTHFR were set to
Prepair 500+ v1.660 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3) to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM#618400; Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM#256810
Prepair 500+ v1.658 MPL Zornitza Stark Phenotypes for gene: MPL were changed from Thrombocytopenia, congenital amegakaryocytic, 604498 (3) to Amegakaryocytic thrombocytopenia, congenital, 1, MIM# 604498
Prepair 500+ v1.650 MMADHC Zornitza Stark Phenotypes for gene: MMADHC were changed from Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3) 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
Prepair 500+ v1.648 MMACHC Zornitza Stark Phenotypes for gene: MMACHC were changed from Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3) to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400
Prepair 500+ v1.646 MMAB Zornitza Stark Phenotypes for gene: MMAB were changed from Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3) to Methylmalonic aciduria, vitamin B12-responsive, cblB type MIM#251110
Prepair 500+ v1.644 MMAA Zornitza Stark Phenotypes for gene: MMAA were changed from Methylmalonic aciduria, vitamin B12-responsive, 251100 (3) to Methylmalonic aciduria, vitamin B12-responsive, MIM#251100
Prepair 500+ v1.642 MLC1 Zornitza Stark Phenotypes for gene: MLC1 were changed from Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 1, MIM #604004
Prepair 500+ v1.640 MKS1 Zornitza Stark Phenotypes for gene: MKS1 were changed from Meckel syndrome 1, 249000 (3) to Bardet-Biedl syndrome 13 MIM#615990; Joubert syndrome 28 MIM#617121; Meckel syndrome 1 MIM#249000; Ciliopathy MONDO:0005308
Prepair 500+ v1.638 MKKS Zornitza Stark Phenotypes for gene: MKKS were changed from McKusick-Kaufman syndrome, 236700 (3) to Bardet-Biedl syndrome 6 MIM#605231; McKusick-Kaufman syndrome MIM#236700; MKKS-related ciliopathy MONDO:1040050
Prepair 500+ v1.632 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive to Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800
Prepair 500+ v1.626 MED17 Zornitza Stark Phenotypes for gene: MED17 were changed from Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3) to Microcephaly, postnatal progressive, with seizures and brain atrophy, MIM#613668
Prepair 500+ v1.622 MECP2 Zornitza Stark Phenotypes for gene: MECP2 were changed from Encephalopathy, neonatal severe, 300673 (3) to Encephalopathy, neonatal severe MIM#300673; Intellectual developmental disorder, X-linked syndromic 13 MIM#300055; Intellectual developmental disorder, X-linked syndromic, Lubs type MIM#300260
Prepair 500+ v1.596 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Restrictive dermopathy, lethal, 275210 (3) to Restrictive dermopathy, lethal, MIM#275210; Mandibuloacral dysplasia, MIM# 248370
Prepair 500+ v1.595 LMBRD1 Zornitza Stark Phenotypes for gene: LMBRD1 were changed from Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3) to Methylmalonic aciduria and homocystinuria, cblF type, MIM#277380
Prepair 500+ v1.580 LARGE1 Zornitza Stark Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6, MIM #608840
Prepair 500+ v1.574 LAMB2 Zornitza Stark Phenotypes for gene: LAMB2 were changed from Pierson syndrome, 609049 (3) to Pierson syndrome, MIM# 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199
Prepair 500+ v1.569 GPR143 Seb Lunke Added comment: Comment on list classification: Marked red in line with LD comment
Prepair 500+ v1.560 KIF7 Zornitza Stark Phenotypes for gene: KIF7 were changed from Hydrolethalus syndrome 2, 614120 (3) to Al-Gazali-Bakalinova syndrome MIM#607131; Hydrolethalus syndrome 2 MIM#614120; Acrocallosal syndrome MIM#200990; Joubert syndrome 12 MIM#200990
Prepair 500+ v1.549 KATNB1 Zornitza Stark Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212
Prepair 500+ v1.541 ITGB4 Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3) to Epidermolysis bullosa, junctional 5B, with pyloric atresia, MIM#226730
Prepair 500+ v1.539 ITGA6 Zornitza Stark Phenotypes for gene: ITGA6 were changed from Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3) to Epidermolysis bullosa, junctional 6, with pyloric atresia (MIM#619817)
Prepair 500+ v1.537 INVS Zornitza Stark Phenotypes for gene: INVS were changed from Nephronophthisis 2, infantile, 602088 (3) to Nephronophthisis 2, infantile, (MIM#602088)
Prepair 500+ v1.529 IGHMBP2 Zornitza Stark Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155
Prepair 500+ v1.524 HYLS1 Zornitza Stark Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome, 236680 (3) to Hydrolethalus syndrome (MIM#236680); Ciliopathy
Prepair 500+ v1.502 HMGCS2 Zornitza Stark Phenotypes for gene: HMGCS2 were changed from HMG-CoA synthase-2 deficiency, 605911 (3) to HMG-CoA synthase-2 deficiency, MIM#605911
Prepair 500+ v1.499 HLCS Zornitza Stark Phenotypes for gene: HLCS were changed from Holocarboxylase synthetase deficiency, 253270 (3) to Holocarboxylase synthetase deficiency MIM#253270
Prepair 500+ v1.489 HCFC1 Zornitza Stark Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541
Prepair 500+ v1.487 HBB Zornitza Stark Phenotypes for gene: HBB were changed from Thalassemias, beta-, 613985 (3) to Sickle cell anaemia, MIM# 603903
Prepair 500+ v1.474 GSS Zornitza Stark Phenotypes for gene: GSS were changed from Glutathione synthetase deficiency, 266130 (3) to Glutathione synthetase deficiency MIM#266130
Prepair 500+ v1.458 GNB5 Zornitza Stark Phenotypes for gene: GNB5 were changed from Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive to Lodder-Merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia (MIM#617173); Lodder-Merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia (MIM#617182)
Prepair 500+ v1.456 GLE1 Zornitza Stark Phenotypes for gene: GLE1 were changed from Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3) to Congenital arthrogryposis with anterior horn cell disease, MIM #611890; Lethal congenital contracture syndrome 1, MIM #253310
Prepair 500+ v1.454 GLDC Zornitza Stark Phenotypes for gene: GLDC were changed from Glycine encephalopathy, 605899 (3) to Glycine encephalopathy1 (MIM#605899)
Prepair 500+ v1.449 GJB1 Zornitza Stark Phenotypes for gene: GJB1 were changed from Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800) to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM#302800
Prepair 500+ v1.440 GDAP1 Zornitza Stark Phenotypes for gene: GDAP1 were changed from Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3) to Charcot-Marie-Tooth disease, axonal, type 2K, MIM #607831; 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
Prepair 500+ v1.438 GCH1 Zornitza Stark Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) to Dystonia, DOPA-responsive, with or without hyperphenylalaninaemia, MIM#128230
Prepair 500+ v1.405 FKTN Zornitza Stark Phenotypes for gene: FKTN were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3) to Muscular dystrophy-dystroglycanopathy MONDO:0018276
Prepair 500+ v1.403 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 (MIM#613153); Muscular dystrophy-dystroglycanopathy (congenital with or without intellectual development), type B, 5 (MIM#606612); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MIM#607155)
Prepair 500+ v1.399 FHL1 Zornitza Stark Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680
Prepair 500+ v1.370 F2 Zornitza Stark Phenotypes for gene: F2 were changed from Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679 to Hypoprothrombinaemia (MIM#613679)
Prepair 500+ v1.360 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Prepair 500+ v1.360 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Prepair 500+ v1.360 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from Ethylmalonic encephalopathy, 602473 (3) to Ethylmalonic encephalopathy, MIM#602473
Prepair 500+ v1.359 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Prepair 500+ v1.349 ERCC6 Zornitza Stark Phenotypes for gene: ERCC6 were changed from Cockayne syndrome, type B, 133540 (3) to Cockayne spectrum with or without cerebrooculofacioskeletal syndrome MONDO:0100506
Prepair 500+ v1.344 ERCC2 Zornitza Stark Phenotypes for gene: ERCC2 were changed from Cerebrooculofacioskeletal syndrome 2, 610756 (3) to Cerebrooculofacioskeletal syndrome 2, MIM# 610756; Trichothiodystrophy 1, photosensitive, MIM# 601675; Xeroderma pigmentosum, group D, MIM# 278730
Prepair 500+ v1.334 EIF2B5 Zornitza Stark Phenotypes for gene: EIF2B5 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure (MIM#620315)
Prepair 500+ v1.332 EIF2B4 Zornitza Stark Phenotypes for gene: EIF2B4 were changed from Leukoencephaly with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 4, with or without ovarian failure MIM#620314
Prepair 500+ v1.330 EIF2B3 Zornitza Stark Phenotypes for gene: EIF2B3 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure MIM#620313
Prepair 500+ v1.328 EIF2B2 Zornitza Stark Phenotypes for gene: EIF2B2 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure, MIM #620312
Prepair 500+ v1.326 EIF2B1 Zornitza Stark Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896
Prepair 500+ v1.322 EDA Zornitza Stark Phenotypes for gene: EDA were changed from Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3) to Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100; Tooth agenesis, selective, X-linked 1 MIM#313500
Prepair 500+ v1.318 DYSF Zornitza Stark Phenotypes for gene: DYSF were changed from Muscular dystrophy, limb-girdle, type 2B, 253601 (3) to Miyoshi muscular dystrophy 1 MIM#254130; MONDO:0024545; Muscular dystrophy, limb-girdle, autosomal recessive 2 MIM#253601; MONDO:0009676; Myopathy, distal, with anterior tibial onset MIM#606768; MONDO:0011721
Prepair 500+ v1.316 DYNC2H1 Zornitza Stark Phenotypes for gene: DYNC2H1 were changed from Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3) to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM#613091
Prepair 500+ v1.314 DYM Zornitza Stark Phenotypes for gene: DYM were changed from Dyggve-Melchior-Clausen disease, 223800 (3) to Dyggve-Melchior-Clausen disease MIM#223800; Smith-McCort dysplasia MIM#607326
Prepair 500+ v1.312 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Myasthenic syndrome, congenital, 10, 254300 (3) to Myasthenic syndrome, congenital, 10, MIM# 254300; Fetal akinesia deformation sequence 3, MIM# 618389
Prepair 500+ v1.307 DNAI2 Zornitza Stark Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444
Prepair 500+ v1.305 DNAI1 Zornitza Stark Phenotypes for gene: DNAI1 were changed from Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3) to Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400
Prepair 500+ v1.303 DNAH5 Zornitza Stark Phenotypes for gene: DNAH5 were changed from Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3) to Ciliary dyskinesia, primary, 3, with or without situs inversus MIM#608644
Prepair 500+ v1.301 DNAH11 Zornitza Stark Phenotypes for gene: DNAH11 were changed from Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3) to Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884
Prepair 500+ v1.285 DHCR7 Zornitza Stark Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome, 270400 (3) to Smith-Lemli-Opitz syndrome (MIM#270400)
Prepair 500+ v1.281 DGUOK Zornitza Stark Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Prepair 500+ v1.279 DGAT1 Zornitza Stark Phenotypes for gene: DGAT1 were changed from ?Diarrhea 7, protein-losing enteropathy type to Diarrhoea 7, protein-losing enteropathy type, MIM# 615863; congenital diarrhea 7 with exudative enteropathy MONDO:0014375
Prepair 500+ v1.272 DCLRE1C Zornitza Stark Phenotypes for gene: DCLRE1C were changed from Severe combined immunodeficiency, Athabascan type, 602450 (3) to Severe combined immunodeficiency, Athabascan type, MIM# 602450; Omenn syndrome, MIM# 603554
Prepair 500+ v1.265 CYP7B1 Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Bile acid synthesis defect, congenital, 3, 613812 (3) to Bile acid synthesis defect, congenital, 3, MIM#613812; Spastic paraplegia 5A, MIM#270800
Prepair 500+ v1.263 CYP27A1 Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700 (3) to Cerebrotendinous xanthomatosis, MIM#213700
Prepair 500+ v1.256 CYP11A1 Zornitza Stark Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3) to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete MIM#613743
Prepair 500+ v1.254 CYBB Zornitza Stark reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chronic granulomatous disease, X-linked, MIM#306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Prepair 500+ v1.242 CTNS Zornitza Stark Phenotypes for gene: CTNS were changed from Cystinosis, nephropathic, 219800 (3) to Cystinosis, nephropathic MIM#219800
Prepair 500+ v1.234 CPT2 Zornitza Stark Phenotypes for gene: CPT2 were changed from CPT II deficiency, lethal neonatal, 608836 (3) to CPT II deficiency, infantile MIM#600649; CPT II deficiency, lethal neonatal MIM#608836
Prepair 500+ v1.230 CPS1 Zornitza Stark Phenotypes for gene: CPS1 were changed from Carbamoylphosphate synthetase I deficiency, 237300 (3) to Carbamoylphosphate synthetase I deficiency MIM#237300
Prepair 500+ v1.228 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3) to Mitochondrial complex IV deficiency, nuclear type 6, MIM #615119
Prepair 500+ v1.226 COLQ Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034 (3) to Myasthenic syndrome, congenital, 5 MIM#603034; MONDO:0011281
Prepair 500+ v1.200 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3) to 3-methylglutaconic aciduria, type VIIB, autosomal recessive (MIM#616271)
Prepair 500+ v1.185 CHRNG Zornitza Stark Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)
Prepair 500+ v1.183 CHRNE Zornitza Stark Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) to Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809; Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931
Prepair 500+ v1.181 CHAT Zornitza Stark Phenotypes for gene: CHAT were changed from Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3) to Myasthenic syndrome, congenital, 6, presynaptic MIM#254210
Prepair 500+ v1.175 CEP290 Zornitza Stark Phenotypes for gene: CEP290 were changed from Joubert syndrome 5, 610188 (3) to CEP290-related ciliopathy MONDO:0100451; Bardet-Biedl syndrome 14, MIM# 615991; Joubert syndrome 5 610188; Leber congenital amaurosis 10, MIM# 611755; Meckel syndrome 4, MIM# 611134; Senior-Loken syndrome 6, MIM# 610189
Prepair 500+ v1.167 CD40LG Zornitza Stark Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM, 308230 (3) to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230
Prepair 500+ v1.165 CD40 Zornitza Stark Phenotypes for gene: CD40 were changed from Immunodeficiency with hyper-IgM, type 3, 606843 (3) to Immunodeficiency with hyper-IgM, type 3, MIM# 606843
Prepair 500+ v1.150 CASK Zornitza Stark Phenotypes for gene: CASK were changed from Mental retardation, with or without nystagmus to X-linked syndromic intellectual disability MONDO:0020119
Prepair 500+ v1.148 GNE Zornitza Stark Phenotypes for gene: GNE were changed from Inclusion body myopathy, autosomal recessive, 600737 (3) to Nonaka myopathy MIM#605820; Thrombocytopenia 12 with or without myopathy MIM#620757
Prepair 500+ v1.136 BTK Zornitza Stark Phenotypes for gene: BTK were changed from Agammaglobulinemia and isolated hormone deficiency, 307200 (3) to Agammaglobulinemia, X-linked 1 MIM#300755; Bruton-type agammaglobulinemia MONDO:0010421; Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615
Prepair 500+ v1.130 BRAT1 Zornitza Stark Phenotypes for gene: BRAT1 were changed from Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3) to Rigidity and multifocal seizure syndrome, lethal neonatal, MIM#614498; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056
Prepair 500+ v1.105 AUH Zornitza Stark Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950 (3) to 3-methylglutaconic aciduria, type I, MIM# 250950; MONDO:0009610
Prepair 500+ v1.103 ATRX Zornitza Stark Phenotypes for gene: ATRX were changed from Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3) to Alpha thalassemia X-linked intellectual disability syndrome MONDO:0010519
Prepair 500+ v1.94 ATP6V1B1 Zornitza Stark Phenotypes for gene: ATP6V1B1 were changed from Renal tubular acidosis with deafness, 267300 (3) to Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300
Prepair 500+ v1.85 ASNS Zornitza Stark Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, 615574 (3) to Asparagine synthetase deficiency, MIM#615574
Prepair 500+ v1.81 ARX Zornitza Stark Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia, 300215 (3) to Epileptic encephalopathy, early infantile, 1 MIM#308350; Hydranencephaly with abnormal genitalia MIM#300215; Lissencephaly, X-linked 2 MIM#300215; Intellectual disability, X-linked 29 and others MIM#300419; Partington syndrome MIM#309510; Proud syndrome MIM#300004
Prepair 500+ v1.66 AMT Zornitza Stark Phenotypes for gene: AMT were changed from Glycine encephalopathy, 605899 (3) to Glycine encephalopathy MIM#620398
Prepair 500+ v1.40 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from Cowchock syndrome, 310490 (3) to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Prepair 500+ v1.14 ACAT1 Zornitza Stark Phenotypes for gene: ACAT1 were changed from Alpha-methylacetoacetic aciduria, 203750 (3) to Alpha-methylacetoacetic aciduria, MIM#203750
Prepair 500+ v1.5 OSGEP Melanie Marty reviewed gene: OSGEP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28805828, 28272532; Phenotypes: Galloway-Mowat syndrome 3, MIM# 617729; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 500+ v1.5 PIGG Ain Roesley Phenotypes for gene: PIGG were changed from Mental retardation, autosomal recessive 53, 616917 (3) to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy MIM#616917
Prepair 500+ v1.0 LIG4 Santosh Varughese reviewed gene: LIG4: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 16088910, 9823897, 15333585, 9809069, 12023982, 11040211, 15175260, 19451691, 17554302; Phenotypes: LIG4 SYNDROME, MULTIPLE MYELOMA, RESISTANCE TO; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 500+ v0.0 YARS2 Seb Lunke gene: YARS2 was added
gene: YARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)
Prepair 500+ v0.0 WWOX Seb Lunke gene: WWOX was added
gene: WWOX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)
Prepair 500+ v0.0 WISP3 Seb Lunke gene: WISP3 was added
gene: WISP3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)
Prepair 500+ v0.0 WDR62 Seb Lunke gene: WDR62 was added
gene: WDR62 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
Prepair 500+ v0.0 WDR34 Seb Lunke gene: WDR34 was added
gene: WDR34 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
Prepair 500+ v0.0 VSX2 Seb Lunke gene: VSX2 was added
gene: VSX2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)
Prepair 500+ v0.0 VLDLR Seb Lunke gene: VLDLR was added
gene: VLDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)
Prepair 500+ v0.0 UBA5 Seb Lunke gene: UBA5 was added
gene: UBA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive
Prepair 500+ v0.0 TTPA Seb Lunke gene: TTPA was added
gene: TTPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)
Prepair 500+ v0.0 TSHB Seb Lunke gene: TSHB was added
gene: TSHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)
Prepair 500+ v0.0 TRDN Seb Lunke gene: TRDN was added
gene: TRDN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)
Prepair 500+ v0.0 TK2 Seb Lunke gene: TK2 was added
gene: TK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)
Prepair 500+ v0.0 THOC2 Seb Lunke gene: THOC2 was added
gene: THOC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive
Prepair 500+ v0.0 TH Seb Lunke gene: TH was added
gene: TH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407
Prepair 500+ v0.0 TGM1 Seb Lunke gene: TGM1 was added
gene: TGM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)
Prepair 500+ v0.0 TECPR2 Seb Lunke gene: TECPR2 was added
gene: TECPR2 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 35130874; 26542466
Phenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031
Prepair 500+ v0.0 TBCD Seb Lunke gene: TBCD was added
gene: TBCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive
Prepair 500+ v0.0 TBC1D24 Seb Lunke gene: TBC1D24 was added
gene: TBC1D24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)
Prepair 500+ v0.0 TAZ Seb Lunke gene: TAZ was added
gene: TAZ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)
Prepair 500+ v0.0 TANGO2 Seb Lunke gene: TANGO2 was added
gene: TANGO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Prepair 500+ v0.0 SYN1 Seb Lunke gene: SYN1 was added
gene: SYN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)
Prepair 500+ v0.0 SPINK5 Seb Lunke gene: SPINK5 was added
gene: SPINK5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)
Prepair 500+ v0.0 SNAP29 Seb Lunke gene: SNAP29 was added
gene: SNAP29 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
Prepair 500+ v0.0 SLC39A4 Seb Lunke gene: SLC39A4 was added
gene: SLC39A4 was added to Prepair 500+. 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 500+ v0.0 SLC38A8 Seb Lunke gene: SLC38A8 was added
gene: SLC38A8 was added to Prepair 500+. 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 500+ v0.0 SLC35A3 Seb Lunke gene: SLC35A3 was added
gene: SLC35A3 was added to Prepair 500+. 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 28777481; 24031089; 28328131
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)
Prepair 500+ v0.0 SLC25A15 Seb Lunke gene: SLC25A15 was added
gene: SLC25A15 was added to Prepair 500+. 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 500+ v0.0 SLC1A4 Seb Lunke gene: SLC1A4 was added
gene: SLC1A4 was added to Prepair 500+. 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 500+ v0.0 SLC19A3 Seb Lunke gene: SLC19A3 was added
gene: SLC19A3 was added to Prepair 500+. 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 500+ v0.0 SLC19A2 Seb Lunke gene: SLC19A2 was added
gene: SLC19A2 was added to Prepair 500+. 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 500+ v0.0 SLC12A6 Seb Lunke gene: SLC12A6 was added
gene: SLC12A6 was added to Prepair 500+. 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 500+ v0.0 SH3TC2 Seb Lunke gene: SH3TC2 was added
gene: SH3TC2 was added to Prepair 500+. 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 500+ v0.0 SERAC1 Seb Lunke gene: SERAC1 was added
gene: SERAC1 was added to Prepair 500+. 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 500+ v0.0 SEC23B Seb Lunke gene: SEC23B was added
gene: SEC23B was added to Prepair 500+. 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 500+ v0.0 SCO2 Seb Lunke gene: SCO2 was added
gene: SCO2 was added to Prepair 500+. 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 500+ v0.0 SC5D Seb Lunke gene: SC5D was added
gene: SC5D was added to Prepair 500+. 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 500+ v0.0 RYR1 Seb Lunke gene: RYR1 was added
gene: RYR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RYR1 were set to PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725
Phenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000
Prepair 500+ v0.0 RAX Seb Lunke gene: RAX was added
gene: RAX was added to Prepair 500+. 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 500+ v0.0 PUS1 Seb Lunke gene: PUS1 was added
gene: PUS1 was added to Prepair 500+. 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 500+ v0.0 POR Seb Lunke gene: POR was added
gene: POR was added to Prepair 500+. 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 500+ v0.0 POMT2 Seb Lunke gene: POMT2 was added
gene: POMT2 was added to Prepair 500+. 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 500+ v0.0 POMT1 Seb Lunke gene: POMT1 was added
gene: POMT1 was added to Prepair 500+. 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 500+ v0.0 POMGNT1 Seb Lunke gene: POMGNT1 was added
gene: POMGNT1 was added to Prepair 500+. 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 500+ v0.0 POLR3B Seb Lunke gene: POLR3B was added
gene: POLR3B was added to Prepair 500+. 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 500+ v0.0 PLA2G6 Seb Lunke gene: PLA2G6 was added
gene: PLA2G6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 35803092
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600
Prepair 500+ v0.0 PGAP2 Seb Lunke gene: PGAP2 was added
gene: PGAP2 was added to Prepair 500+. 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 500+ v0.0 PCDH19 Seb Lunke gene: PCDH19 was added
gene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: PCDH19 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: PCDH19 were set to 18469813; 30287595
Phenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)
Prepair 500+ v0.0 PANK2 Seb Lunke gene: PANK2 was added
gene: PANK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 15911822
Phenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM#234200
Prepair 500+ v0.0 OTC Seb Lunke gene: OTC was added
gene: OTC was added to Prepair 500+. 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 500+ v0.0 OPHN1 Seb Lunke gene: OPHN1 was added
gene: OPHN1 was added to Prepair 500+. 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 500+ v0.0 OPA3 Seb Lunke gene: OPA3 was added
gene: OPA3 was added to Prepair 500+. 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 500+ v0.0 NTRK1 Seb Lunke gene: NTRK1 was added
gene: NTRK1 was added to Prepair 500+. 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 500+ v0.0 NEB Seb Lunke gene: NEB was added
gene: NEB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEB were set to 27228465
Phenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)
Prepair 500+ v0.0 NDRG1 Seb Lunke gene: NDRG1 was added
gene: NDRG1 was added to Prepair 500+. 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 500+ v0.0 NDE1 Seb Lunke gene: NDE1 was added
gene: NDE1 was added to Prepair 500+. 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 500+ v0.0 NALCN Seb Lunke gene: NALCN was added
gene: NALCN was added to Prepair 500+. 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 500+ v0.0 NAGS Seb Lunke gene: NAGS was added
gene: NAGS was added to Prepair 500+. 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 500+ v0.0 MUT Seb Lunke gene: MUT was added
gene: MUT was added to Prepair 500+. 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 500+ v0.0 MUSK Seb Lunke gene: MUSK was added
gene: MUSK was added to Prepair 500+. 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 500+ v0.0 MTMR2 Seb Lunke gene: MTMR2 was added
gene: MTMR2 was added to Prepair 500+. 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 500+ v0.0 MTM1 Seb Lunke gene: MTM1 was added
gene: MTM1 was added to Prepair 500+. 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 500+ v0.0 MTHFR Seb Lunke gene: MTHFR was added
gene: MTHFR was added to Prepair 500+. 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 500+ v0.0 MPL Seb Lunke gene: MPL was added
gene: MPL was added to Prepair 500+. 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 500+ v0.0 MMADHC Seb Lunke gene: MMADHC was added
gene: MMADHC was added to Prepair 500+. 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 500+ v0.0 MMACHC Seb Lunke gene: MMACHC was added
gene: MMACHC was added to Prepair 500+. 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 500+ v0.0 MMAB Seb Lunke gene: MMAB was added
gene: MMAB was added to Prepair 500+. 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 500+ v0.0 MMAA Seb Lunke gene: MMAA was added
gene: MMAA was added to Prepair 500+. 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 500+ v0.0 MLC1 Seb Lunke gene: MLC1 was added
gene: MLC1 was added to Prepair 500+. 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 500+ v0.0 MFN2 Seb Lunke gene: MFN2 was added
gene: MFN2 was added to Prepair 500+. 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 500+ v0.0 MED17 Seb Lunke gene: MED17 was added
gene: MED17 was added to Prepair 500+. 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 500+ v0.0 MECP2 Seb Lunke gene: MECP2 was added
gene: MECP2 was added to Prepair 500+. 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 500+ v0.0 LMNA Seb Lunke gene: LMNA was added
gene: LMNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNA were set to 18551513; 17377071; 15148145
Phenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)
Prepair 500+ v0.0 LMBRD1 Seb Lunke gene: LMBRD1 was added
gene: LMBRD1 was added to Prepair 500+. 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 500+ v0.0 LARGE1 Seb Lunke gene: LARGE1 was added
gene: LARGE1 was added to Prepair 500+. 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 500+ v0.0 KIF7 Seb Lunke gene: KIF7 was added
gene: KIF7 was added to Prepair 500+. 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 500+ v0.0 KATNB1 Seb Lunke gene: KATNB1 was added
gene: KATNB1 was added to Prepair 500+. 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 500+ v0.0 ITGB4 Seb Lunke gene: ITGB4 was added
gene: ITGB4 was added to Prepair 500+. 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 500+ v0.0 ITGA6 Seb Lunke gene: ITGA6 was added
gene: ITGA6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGA6 were set to 27607025; 31502654; 20301336; 9158140; 34525201
Phenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)
Prepair 500+ v0.0 INVS Seb Lunke gene: INVS was added
gene: INVS was added to Prepair 500+. 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 500+ v0.0 IGHMBP2 Seb Lunke gene: IGHMBP2 was added
gene: IGHMBP2 was added to Prepair 500+. 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 500+ v0.0 HYLS1 Seb Lunke gene: HYLS1 was added
gene: HYLS1 was added to Prepair 500+. 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 500+ v0.0 HMGCS2 Seb Lunke gene: HMGCS2 was added
gene: HMGCS2 was added to Prepair 500+. 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 500+ v0.0 HLCS Seb Lunke gene: HLCS was added
gene: HLCS was added to Prepair 500+. 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 500+ v0.0 HCFC1 Seb Lunke gene: HCFC1 was added
gene: HCFC1 was added to Prepair 500+. 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 500+ v0.0 HBB Seb Lunke gene: HBB was added
gene: HBB was added to Prepair 500+. 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 500+ v0.0 GSS Seb Lunke gene: GSS was added
gene: GSS was added to Prepair 500+. 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 500+ v0.0 GNE Seb Lunke gene: GNE was added
gene: GNE was added to Prepair 500+. 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 500+ v0.0 GNB5 Seb Lunke gene: GNB5 was added
gene: GNB5 was added to Prepair 500+. 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 500+ v0.0 GLE1 Seb Lunke gene: GLE1 was added
gene: GLE1 was added to Prepair 500+. 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 500+ v0.0 GLDC Seb Lunke gene: GLDC was added
gene: GLDC was added to Prepair 500+. 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 500+ v0.0 GJB1 Seb Lunke gene: GJB1 was added
gene: GJB1 was added to Prepair 500+. Sources: Literature,Expert Review Green
Mode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 (MIM#302800)
Prepair 500+ v0.0 GDAP1 Seb Lunke gene: GDAP1 was added
gene: GDAP1 was added to Prepair 500+. 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 500+ v0.0 GCH1 Seb Lunke gene: GCH1 was added
gene: GCH1 was added to Prepair 500+. 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 500+ v0.0 FKTN Seb Lunke gene: FKTN was added
gene: FKTN was added to Prepair 500+. 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 500+ v0.0 FKRP Seb Lunke gene: FKRP was added
gene: FKRP was added to Prepair 500+. 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 500+ v0.0 F2 Seb Lunke gene: F2 was added
gene: F2 was added to Prepair 500+. 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 Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679
Prepair 500+ v0.0 ETHE1 Seb Lunke gene: ETHE1 was added
gene: ETHE1 was added to Prepair 500+. 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 500+ v0.0 EIF2B5 Seb Lunke gene: EIF2B5 was added
gene: EIF2B5 was added to Prepair 500+. 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 500+ v0.0 EIF2B4 Seb Lunke gene: EIF2B4 was added
gene: EIF2B4 was added to Prepair 500+. 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 500+ v0.0 EIF2B3 Seb Lunke gene: EIF2B3 was added
gene: EIF2B3 was added to Prepair 500+. 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 500+ v0.0 EIF2B2 Seb Lunke gene: EIF2B2 was added
gene: EIF2B2 was added to Prepair 500+. 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 500+ v0.0 EIF2B1 Seb Lunke gene: EIF2B1 was added
gene: EIF2B1 was added to Prepair 500+. 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 500+ v0.0 DYNC2H1 Seb Lunke gene: DYNC2H1 was added
gene: DYNC2H1 was added to Prepair 500+. 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 500+ v0.0 DOK7 Seb Lunke gene: DOK7 was added
gene: DOK7 was added to Prepair 500+. 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 500+ v0.0 DNAI2 Seb Lunke gene: DNAI2 was added
gene: DNAI2 was added to Prepair 500+. 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 500+ v0.0 DNAI1 Seb Lunke gene: DNAI1 was added
gene: DNAI1 was added to Prepair 500+. 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 500+ v0.0 DNAH5 Seb Lunke gene: DNAH5 was added
gene: DNAH5 was added to Prepair 500+. 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 500+ v0.0 DNAH11 Seb Lunke gene: DNAH11 was added
gene: DNAH11 was added to Prepair 500+. 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 500+ v0.0 DHCR7 Seb Lunke gene: DHCR7 was added
gene: DHCR7 was added to Prepair 500+. 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 500+ v0.0 DGAT1 Seb Lunke gene: DGAT1 was added
gene: DGAT1 was added to Prepair 500+. 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 500+ v0.0 DCLRE1C Seb Lunke gene: DCLRE1C was added
gene: DCLRE1C was added to Prepair 500+. 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 500+ v0.0 CYP7B1 Seb Lunke gene: CYP7B1 was added
gene: CYP7B1 was added to Prepair 500+. 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 500+ v0.0 CYP27A1 Seb Lunke gene: CYP27A1 was added
gene: CYP27A1 was added to Prepair 500+. 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 500+ v0.0 CYP11A1 Seb Lunke gene: CYP11A1 was added
gene: CYP11A1 was added to Prepair 500+. 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 500+ v0.0 CTNS Seb Lunke gene: CTNS was added
gene: CTNS was added to Prepair 500+. 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 500+ v0.0 CPT2 Seb Lunke gene: CPT2 was added
gene: CPT2 was added to Prepair 500+. 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 500+ v0.0 CPS1 Seb Lunke gene: CPS1 was added
gene: CPS1 was added to Prepair 500+. 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 500+ v0.0 COX15 Seb Lunke gene: COX15 was added
gene: COX15 was added to Prepair 500+. 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 500+ v0.0 COLQ Seb Lunke gene: COLQ was added
gene: COLQ was added to Prepair 500+. 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 500+ v0.0 COL4A5 Seb Lunke gene: COL4A5 was added
gene: COL4A5 was added to Prepair 500+. 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 500+ v0.0 CLPB Seb Lunke gene: CLPB was added
gene: CLPB was added to Prepair 500+. 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 500+ v0.0 CHRNE Seb Lunke gene: CHRNE was added
gene: CHRNE was added to Prepair 500+. 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 500+ v0.0 CHAT Seb Lunke gene: CHAT was added
gene: CHAT was added to Prepair 500+. 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 500+ v0.0 CD40LG Seb Lunke gene: CD40LG was added
gene: CD40LG was added to Prepair 500+. 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 500+ v0.0 CD40 Seb Lunke gene: CD40 was added
gene: CD40 was added to Prepair 500+. 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 500+ v0.0 CASK Seb Lunke gene: CASK was added
gene: CASK was added to Prepair 500+. 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 500+ v0.0 BRAT1 Seb Lunke gene: BRAT1 was added
gene: BRAT1 was added to Prepair 500+. 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 500+ v0.0 AUH Seb Lunke gene: AUH was added
gene: AUH was added to Prepair 500+. 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 500+ v0.0 ATP6V1B1 Seb Lunke gene: ATP6V1B1 was added
gene: ATP6V1B1 was added to Prepair 500+. 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 500+ v0.0 ASNS Seb Lunke gene: ASNS was added
gene: ASNS was added to Prepair 500+. 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 500+ v0.0 ARX Seb Lunke gene: ARX was added
gene: ARX was added to Prepair 500+. 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 500+ v0.0 AMT Seb Lunke gene: AMT was added
gene: AMT was added to Prepair 500+. 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 500+ v0.0 ACAT1 Seb Lunke gene: ACAT1 was added
gene: ACAT1 was added to Prepair 500+. 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 500+ v0.0 ABCA12 Seb Lunke gene: ABCA12 was added
gene: ABCA12 was added to Prepair 500+. 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)