{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=523","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=521","results":[{"created":"2023-11-03T16:07:49.073963+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GUSB was added\ngene: GUSB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)","entity_name":"GUSB","entity_type":"gene"},{"created":"2023-11-03T16:07:48.867471+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GUCY2D was added\ngene: GUCY2D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)","entity_name":"GUCY2D","entity_type":"gene"},{"created":"2023-11-03T16:07:48.663595+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GSS was added\ngene: GSS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)","entity_name":"GSS","entity_type":"gene"},{"created":"2023-11-03T16:07:48.470769+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GPSM2 was added\ngene: GPSM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)","entity_name":"GPSM2","entity_type":"gene"},{"created":"2023-11-03T16:07:48.005759+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GPR143 was added\ngene: GPR143 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)","entity_name":"GPR143","entity_type":"gene"},{"created":"2023-11-03T16:07:47.820892+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GPC3 was added\ngene: GPC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)","entity_name":"GPC3","entity_type":"gene"},{"created":"2023-11-03T16:07:47.614666+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GORAB was added\ngene: GORAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)","entity_name":"GORAB","entity_type":"gene"},{"created":"2023-11-03T16:07:47.411466+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNS was added\ngene: GNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)","entity_name":"GNS","entity_type":"gene"},{"created":"2023-11-03T16:07:47.263277+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNPTG was added\ngene: GNPTG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)","entity_name":"GNPTG","entity_type":"gene"},{"created":"2023-11-03T16:07:47.073266+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNPTAB was added\ngene: GNPTAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)","entity_name":"GNPTAB","entity_type":"gene"},{"created":"2023-11-03T16:07:46.881958+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNPAT was added\ngene: GNPAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)","entity_name":"GNPAT","entity_type":"gene"},{"created":"2023-11-03T16:07:46.678205+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNE was added\ngene: GNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)","entity_name":"GNE","entity_type":"gene"},{"created":"2023-11-03T16:07:46.474660+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GNB5 was added\ngene: GNB5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive","entity_name":"GNB5","entity_type":"gene"},{"created":"2023-11-03T16:07:46.277367+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GLE1 was added\ngene: GLE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)","entity_name":"GLE1","entity_type":"gene"},{"created":"2023-11-03T16:07:46.086613+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GLDC was added\ngene: GLDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)","entity_name":"GLDC","entity_type":"gene"},{"created":"2023-11-03T16:07:45.885775+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GLB1 was added\ngene: GLB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)","entity_name":"GLB1","entity_type":"gene"},{"created":"2023-11-03T16:07:45.684562+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GLA were set to 29649853; 20301469\nPhenotypes for gene: GLA were set to Fabry disease, MIM#301500","entity_name":"GLA","entity_type":"gene"},{"created":"2023-11-03T16:07:45.492145+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GJB1 was added\ngene: GJB1 was added to Prepair 500+. Sources: Literature,Expert Review Green\nMode of inheritance for gene: GJB1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GJB1 were set to Charcot-Marie-Tooth neuropathy, X-linked dominant, 1\t(MIM#302800)","entity_name":"GJB1","entity_type":"gene"},{"created":"2023-11-03T16:07:45.279345+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GHR was added\ngene: GHR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)","entity_name":"GHR","entity_type":"gene"},{"created":"2023-11-03T16:07:45.075812+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GFM1 was added\ngene: GFM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)","entity_name":"GFM1","entity_type":"gene"},{"created":"2023-11-03T16:07:44.865868+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GDF5 was added\ngene: GDF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)","entity_name":"GDF5","entity_type":"gene"},{"created":"2023-11-03T16:07:44.661132+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GDF1 was added\ngene: GDF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)","entity_name":"GDF1","entity_type":"gene"},{"created":"2023-11-03T16:07:44.471941+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GDAP1 was added\ngene: GDAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)","entity_name":"GDAP1","entity_type":"gene"},{"created":"2023-11-03T16:07:44.276992+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GCH1 was added\ngene: GCH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GCH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3)","entity_name":"GCH1","entity_type":"gene"},{"created":"2023-11-03T16:07:44.084468+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaricaciduria, type I, 231670 (3)","entity_name":"GCDH","entity_type":"gene"},{"created":"2023-11-03T16:07:43.889688+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GBE1 was added\ngene: GBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBE1 were set to Glycogen storage disease IV, 232500 (3)","entity_name":"GBE1","entity_type":"gene"},{"created":"2023-11-03T16:07:43.691295+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GATM was added\ngene: GATM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3, 612718 (3)","entity_name":"GATM","entity_type":"gene"},{"created":"2023-11-03T16:07:43.499697+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GAMT was added\ngene: GAMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2, 612736 (3)","entity_name":"GAMT","entity_type":"gene"},{"created":"2023-11-03T16:07:43.368477+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GALT was added\ngene: GALT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALT were set to Galactosemia, 230400 (3)","entity_name":"GALT","entity_type":"gene"},{"created":"2023-11-03T16:07:43.181391+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GALNS was added\ngene: GALNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALNS were set to Mucopolysaccharidosis IVA, 253000 (3)","entity_name":"GALNS","entity_type":"gene"},{"created":"2023-11-03T16:07:42.994212+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GALC was added\ngene: GALC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GALC were set to Krabbe disease, 245200 (3)","entity_name":"GALC","entity_type":"gene"},{"created":"2023-11-03T16:07:42.822538+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: GAA was added\ngene: GAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GAA were set to Glycogen storage disease II, 232300 (3)","entity_name":"GAA","entity_type":"gene"},{"created":"2023-11-03T16:07:42.664193+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: G6PC3 was added\ngene: G6PC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: G6PC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC3 were set to Dursun syndrome, 612541 (3)","entity_name":"G6PC3","entity_type":"gene"},{"created":"2023-11-03T16:07:42.280765+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: G6PC was added\ngene: G6PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: G6PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: G6PC were set to Glycogen storage disease Ia, 232200 (3)","entity_name":"G6PC","entity_type":"gene"},{"created":"2023-11-03T16:07:42.082629+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FUCA1 was added\ngene: FUCA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FUCA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FUCA1 were set to Fucosidosis, 230000 (3)","entity_name":"FUCA1","entity_type":"gene"},{"created":"2023-11-03T16:07:41.881239+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FTSJ1 was added\ngene: FTSJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FTSJ1 were set to Mental retardation, X-linked 9, 309549 (3)","entity_name":"FTSJ1","entity_type":"gene"},{"created":"2023-11-03T16:07:41.708325+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FREM2 was added\ngene: FREM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FREM2 were set to Fraser syndrome, 219000 (3)","entity_name":"FREM2","entity_type":"gene"},{"created":"2023-11-03T16:07:41.483231+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FRAS1 was added\ngene: FRAS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FRAS1 were set to Fraser syndrome, 219000 (3)","entity_name":"FRAS1","entity_type":"gene"},{"created":"2023-11-03T16:07:41.290065+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FOXRED1 was added\ngene: FOXRED1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXRED1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXRED1 were set to Mitochondrial complex I deficiency, 252010 (3)","entity_name":"FOXRED1","entity_type":"gene"},{"created":"2023-11-03T16:07:41.164120+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FOXN1 was added\ngene: FOXN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FOXN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FOXN1 were set to T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3)","entity_name":"FOXN1","entity_type":"gene"},{"created":"2023-11-03T16:07:40.967272+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FMR1 was added\ngene: FMR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FMR1 were set to Fragile X syndrome","entity_name":"FMR1","entity_type":"gene"},{"created":"2023-11-03T16:07:40.782217+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FLNA were set to FG syndrome 2, 300321 (3)","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-11-03T16:07:40.599550+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FKTN was added\ngene: FKTN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4, 253800 (3)","entity_name":"FKTN","entity_type":"gene"},{"created":"2023-11-03T16:07:40.396673+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3)","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-11-03T16:07:40.190022+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FKBP10 was added\ngene: FKBP10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKBP10 were set to Bruck syndrome 1, 259450 (3)","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-11-03T16:07:39.982483+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3)","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-11-03T16:07:39.790663+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FH was added\ngene: FH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FH were set to Fumarase deficiency, 606812 (3)","entity_name":"FH","entity_type":"gene"},{"created":"2023-11-03T16:07:39.629846+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FBXO7 was added\ngene: FBXO7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXO7 were set to Parkinson disease 15, autosomal recessive, 260300 (3)","entity_name":"FBXO7","entity_type":"gene"},{"created":"2023-11-03T16:07:39.459838+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FBP1 was added\ngene: FBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBP1 were set to Fructose-1,6-bisphosphatase deficiency, 229700 (3)","entity_name":"FBP1","entity_type":"gene"},{"created":"2023-11-03T16:07:39.271235+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FAT4 was added\ngene: FAT4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)","entity_name":"FAT4","entity_type":"gene"},{"created":"2023-11-03T16:07:39.084071+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCL was added\ngene: FANCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, 614083 (3)","entity_name":"FANCL","entity_type":"gene"},{"created":"2023-11-03T16:07:38.908375+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCI was added\ngene: FANCI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, 609053 (3)","entity_name":"FANCI","entity_type":"gene"},{"created":"2023-11-03T16:07:38.699395+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCG was added\ngene: FANCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCG were set to Fanconi anemia, complementation group G, 614082 (3)","entity_name":"FANCG","entity_type":"gene"},{"created":"2023-11-03T16:07:38.516648+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCF was added\ngene: FANCF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCF were set to Fanconi anemia, complementation group F, 603467 (3)","entity_name":"FANCF","entity_type":"gene"},{"created":"2023-11-03T16:07:38.359682+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCE was added\ngene: FANCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCE were set to Fanconi anemia, complementation group E, 600901 (3)","entity_name":"FANCE","entity_type":"gene"},{"created":"2023-11-03T16:07:38.178543+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCD2 was added\ngene: FANCD2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCD2 were set to Fanconi anemia, complementation group D2, 227646 (3)","entity_name":"FANCD2","entity_type":"gene"},{"created":"2023-11-03T16:07:37.981953+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCC was added\ngene: FANCC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCC were set to Fanconi anemia, complementation group C, 227645 (3)","entity_name":"FANCC","entity_type":"gene"},{"created":"2023-11-03T16:07:37.600148+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCB was added\ngene: FANCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514 (3)","entity_name":"FANCB","entity_type":"gene"},{"created":"2023-11-03T16:07:37.476296+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FANCA was added\ngene: FANCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FANCA were set to Fanconi anemia, complementation group A, 227650 (3)","entity_name":"FANCA","entity_type":"gene"},{"created":"2023-11-03T16:07:37.280844+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FAM126A was added\ngene: FAM126A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAM126A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM126A were set to Leukodystrophy, hypomyelinating, 5, 610532 (3)","entity_name":"FAM126A","entity_type":"gene"},{"created":"2023-11-03T16:07:37.094483+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: FAH was added\ngene: FAH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3)","entity_name":"FAH","entity_type":"gene"},{"created":"2023-11-03T16:07:36.959998+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: F2 was added\ngene: F2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: F2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: F2 were set to Hypoprothrombinaemia (MIM#613679); Dysprothrombinaemia, 613679","entity_name":"F2","entity_type":"gene"},{"created":"2023-11-03T16:07:36.777066+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EXOSC8 was added\ngene: EXOSC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, 616081 (3)","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2023-11-03T16:07:36.563413+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EXOSC3 was added\ngene: EXOSC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B, 614678 (3)","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2023-11-03T16:07:36.371798+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EVC2 was added\ngene: EVC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500 (3)","entity_name":"EVC2","entity_type":"gene"},{"created":"2023-11-03T16:07:36.192688+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EVC was added\ngene: EVC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500 (3)","entity_name":"EVC","entity_type":"gene"},{"created":"2023-11-03T16:07:35.989205+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ETHE1 was added\ngene: ETHE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy, 602473 (3)","entity_name":"ETHE1","entity_type":"gene"},{"created":"2023-11-03T16:07:35.797955+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ETFDH was added\ngene: ETFDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680 (3)","entity_name":"ETFDH","entity_type":"gene"},{"created":"2023-11-03T16:07:35.604635+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ETFB was added\ngene: ETFB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFB were set to Glutaric acidemia IIB, 231680 (3)","entity_name":"ETFB","entity_type":"gene"},{"created":"2023-11-03T16:07:35.466270+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ETFA was added\ngene: ETFA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ETFA were set to Glutaric acidemia IIA, 231680 (3)","entity_name":"ETFA","entity_type":"gene"},{"created":"2023-11-03T16:07:35.282942+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ESCO2 was added\ngene: ESCO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ESCO2 were set to SC phocomelia syndrome, 269000 (3)","entity_name":"ESCO2","entity_type":"gene"},{"created":"2023-11-03T16:07:35.081177+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ERCC8 was added\ngene: ERCC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC8 were set to Cockayne syndrome, type A, 216400 (3)","entity_name":"ERCC8","entity_type":"gene"},{"created":"2023-11-03T16:07:34.899800+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ERCC6 was added\ngene: ERCC6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC6 were set to Cockayne syndrome, type B, 133540 (3)","entity_name":"ERCC6","entity_type":"gene"},{"created":"2023-11-03T16:07:34.702455+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ERCC5 was added\ngene: ERCC5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780 (3)","entity_name":"ERCC5","entity_type":"gene"},{"created":"2023-11-03T16:07:34.522216+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ERCC4 was added\ngene: ERCC4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272 (3)","entity_name":"ERCC4","entity_type":"gene"},{"created":"2023-11-03T16:07:34.313603+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ERCC2 was added\ngene: ERCC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ERCC2 were set to Cerebrooculofacioskeletal syndrome 2, 610756 (3)","entity_name":"ERCC2","entity_type":"gene"},{"created":"2023-11-03T16:07:34.159750+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EPG5 was added\ngene: EPG5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EPG5 were set to Vici syndrome, 242840 (3)","entity_name":"EPG5","entity_type":"gene"},{"created":"2023-11-03T16:07:33.972794+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ENPP1 was added\ngene: ENPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ENPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ENPP1 were set to Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3)","entity_name":"ENPP1","entity_type":"gene"},{"created":"2023-11-03T16:07:33.780448+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EMD was added\ngene: EMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3)","entity_name":"EMD","entity_type":"gene"},{"created":"2023-11-03T16:07:33.583535+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ELP1 was added\ngene: ELP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ELP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ELP1 were set to Dysautonomia, familial, 223900 (3)","entity_name":"ELP1","entity_type":"gene"},{"created":"2023-11-03T16:07:33.388398+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2B5 was added\ngene: EIF2B5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B5 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B5","entity_type":"gene"},{"created":"2023-11-03T16:07:33.060230+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2B4 was added\ngene: EIF2B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B4 were set to Leukoencephaly with vanishing white matter, 603896 (3)","entity_name":"EIF2B4","entity_type":"gene"},{"created":"2023-11-03T16:07:32.881300+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2B3 was added\ngene: EIF2B3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B3 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B3","entity_type":"gene"},{"created":"2023-11-03T16:07:32.694904+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2B2 was added\ngene: EIF2B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B2","entity_type":"gene"},{"created":"2023-11-03T16:07:32.562883+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2B1 was added\ngene: EIF2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2B1 were set to Leukoencephalopathy with vanishing white matter, 603896 (3)","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2023-11-03T16:07:32.383004+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EIF2AK3 was added\ngene: EIF2AK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EIF2AK3 were set to Wolcott-Rallison syndrome, 226980 (3)","entity_name":"EIF2AK3","entity_type":"gene"},{"created":"2023-11-03T16:07:32.202174+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: EDA was added\ngene: EDA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: EDA were set to Ectodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3)","entity_name":"EDA","entity_type":"gene"},{"created":"2023-11-03T16:07:32.062283+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: ECHS1 was added\ngene: ECHS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2023-11-03T16:07:31.876793+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DYSF was added\ngene: DYSF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B, 253601 (3)","entity_name":"DYSF","entity_type":"gene"},{"created":"2023-11-03T16:07:31.684199+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DYNC2H1 was added\ngene: DYNC2H1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2023-11-03T16:07:31.518853+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DYM was added\ngene: DYM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DYM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DYM were set to Dyggve-Melchior-Clausen disease, 223800 (3)","entity_name":"DYM","entity_type":"gene"},{"created":"2023-11-03T16:07:31.369092+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DOK7 was added\ngene: DOK7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOK7 were set to Myasthenic syndrome, congenital, 10, 254300 (3)","entity_name":"DOK7","entity_type":"gene"},{"created":"2023-11-03T16:07:31.182312+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DOCK6 was added\ngene: DOCK6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK6 were set to Adams-Oliver syndrome 2, 614219 (3)","entity_name":"DOCK6","entity_type":"gene"},{"created":"2023-11-03T16:07:31.000688+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNMT3B was added\ngene: DNMT3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, 242860 (3)","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2023-11-03T16:07:30.868553+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNAI2 was added\ngene: DNAI2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3)","entity_name":"DNAI2","entity_type":"gene"},{"created":"2023-11-03T16:07:30.680347+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNAI1 was added\ngene: DNAI1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAI1 were set to Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)","entity_name":"DNAI1","entity_type":"gene"},{"created":"2023-11-03T16:07:30.496093+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNAH5 was added\ngene: DNAH5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH5 were set to Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)","entity_name":"DNAH5","entity_type":"gene"},{"created":"2023-11-03T16:07:30.372982+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DNAH11 was added\ngene: DNAH11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DNAH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAH11 were set to Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)","entity_name":"DNAH11","entity_type":"gene"},{"created":"2023-11-03T16:07:30.181724+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DMD was added\ngene: DMD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DMD were set to Duchenne muscular dystrophy, 310200 (3)","entity_name":"DMD","entity_type":"gene"},{"created":"2023-11-03T16:07:30.036308+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: DLL3 was added\ngene: DLL3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLL3 were set to Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)","entity_name":"DLL3","entity_type":"gene"}]}