{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=521","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=519","results":[{"created":"2023-11-03T16:08:40.026856+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)","entity_name":"POMT2","entity_type":"gene"},{"created":"2023-11-03T16:08:39.491698+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)","entity_name":"POMT1","entity_type":"gene"},{"created":"2023-11-03T16:08:39.205174+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2023-11-03T16:08:38.966214+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2023-11-03T16:08:38.675523+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POLR1C was added\ngene: POLR1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)","entity_name":"POLR1C","entity_type":"gene"},{"created":"2023-11-03T16:08:38.381094+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)","entity_name":"POLG","entity_type":"gene"},{"created":"2023-11-03T16:08:38.091688+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PNPO was added\ngene: PNPO was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)","entity_name":"PNPO","entity_type":"gene"},{"created":"2023-11-03T16:08:37.784106+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PNKP was added\ngene: PNKP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)","entity_name":"PNKP","entity_type":"gene"},{"created":"2023-11-03T16:08:37.505177+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PMM2 was added\ngene: PMM2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-11-03T16:08:37.074410+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PLPBP was added\ngene: PLPBP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive","entity_name":"PLPBP","entity_type":"gene"},{"created":"2023-11-03T16:08:36.779536+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PLP1 was added\ngene: PLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-11-03T16:08:36.501456+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PLOD1 was added\ngene: PLOD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)","entity_name":"PLOD1","entity_type":"gene"},{"created":"2023-11-03T16:08:36.271609+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PLA2G6 was added\ngene: PLA2G6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLA2G6 were set to 35803092\nPhenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B MIM#610217; Infantile neuroaxonal dystrophy 1 MIM#256600","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-11-03T16:08:35.987709+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PKHD1 was added\ngene: PKHD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)","entity_name":"PKHD1","entity_type":"gene"},{"created":"2023-11-03T16:08:35.701469+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PIGT was added\ngene: PIGT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3","entity_name":"PIGT","entity_type":"gene"},{"created":"2023-11-03T16:08:35.483757+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PIGN was added\ngene: PIGN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)","entity_name":"PIGN","entity_type":"gene"},{"created":"2023-11-03T16:08:34.991587+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PIGG was added\ngene: PIGG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)","entity_name":"PIGG","entity_type":"gene"},{"created":"2023-11-03T16:08:34.765275+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PIBF1 was added\ngene: PIBF1 was added to Prepair 500+. Sources: Literature,Expert Review Green\nMode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PIBF1 were set to 26167768; 30858804; 29695797; 33004012\nPhenotypes for gene: PIBF1 were set to Joubert syndrome 33 (MIM#617767)","entity_name":"PIBF1","entity_type":"gene"},{"created":"2023-11-03T16:08:34.493187+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PHYH was added\ngene: PHYH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease, 266500 (3)","entity_name":"PHYH","entity_type":"gene"},{"created":"2023-11-03T16:08:34.260161+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PHGDH was added\ngene: PHGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)","entity_name":"PHGDH","entity_type":"gene"},{"created":"2023-11-03T16:08:33.984849+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PHF8 was added\ngene: PHF8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)","entity_name":"PHF8","entity_type":"gene"},{"created":"2023-11-03T16:08:33.709442+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PGM3 was added\ngene: PGM3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)","entity_name":"PGM3","entity_type":"gene"},{"created":"2023-11-03T16:08:33.438673+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PGM1 was added\ngene: PGM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)","entity_name":"PGM1","entity_type":"gene"},{"created":"2023-11-03T16:08:33.161582+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PGK1 was added\ngene: PGK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PGK1 were set to 28580215; 16567715; 22348148; 30887539\nPhenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)","entity_name":"PGK1","entity_type":"gene"},{"created":"2023-11-03T16:08:32.683485+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PGAP2 was added\ngene: PGAP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)","entity_name":"PGAP2","entity_type":"gene"},{"created":"2023-11-03T16:08:32.463254+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PFKM was added\ngene: PFKM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)","entity_name":"PFKM","entity_type":"gene"},{"created":"2023-11-03T16:08:32.183715+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX7 was added\ngene: PEX7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)","entity_name":"PEX7","entity_type":"gene"},{"created":"2023-11-03T16:08:31.963197+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX6 was added\ngene: PEX6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862","entity_name":"PEX6","entity_type":"gene"},{"created":"2023-11-03T16:08:31.686422+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX5 was added\ngene: PEX5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110","entity_name":"PEX5","entity_type":"gene"},{"created":"2023-11-03T16:08:31.474892+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX26 was added\ngene: PEX26 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872","entity_name":"PEX26","entity_type":"gene"},{"created":"2023-11-03T16:08:31.198780+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX2 was added\ngene: PEX2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866","entity_name":"PEX2","entity_type":"gene"},{"created":"2023-11-03T16:08:30.989599+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX16 was added\ngene: PEX16 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876","entity_name":"PEX16","entity_type":"gene"},{"created":"2023-11-03T16:08:30.499981+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX13 was added\ngene: PEX13 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883","entity_name":"PEX13","entity_type":"gene"},{"created":"2023-11-03T16:08:30.278131+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX12 was added\ngene: PEX12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859","entity_name":"PEX12","entity_type":"gene"},{"created":"2023-11-03T16:08:29.999378+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX10 was added\ngene: PEX10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870","entity_name":"PEX10","entity_type":"gene"},{"created":"2023-11-03T16:08:29.776554+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEX1 was added\ngene: PEX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100","entity_name":"PEX1","entity_type":"gene"},{"created":"2023-11-03T16:08:29.490862+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PET100 was added\ngene: PET100 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)","entity_name":"PET100","entity_type":"gene"},{"created":"2023-11-03T16:08:29.206563+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PEPD was added\ngene: PEPD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)","entity_name":"PEPD","entity_type":"gene"},{"created":"2023-11-03T16:08:28.977205+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PDHB was added\ngene: PDHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)","entity_name":"PDHB","entity_type":"gene"},{"created":"2023-11-03T16:08:28.760345+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PDHA1 was added\ngene: PDHA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PDHA1 were set to 28584645; 22142326\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-11-03T16:08:28.486602+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PCNT was added\ngene: PCNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)","entity_name":"PCNT","entity_type":"gene"},{"created":"2023-11-03T16:08:28.271633+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PCDH19 was added\ngene: PCDH19 was added to Prepair 500+. Sources: Literature,Expert Review Green\nMode 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)\nPublications for gene: PCDH19 were set to 18469813; 30287595\nPhenotypes for gene: PCDH19 were set to Developmental and epileptic encephalopathy 9 (MIM#300088)","entity_name":"PCDH19","entity_type":"gene"},{"created":"2023-11-03T16:08:27.794095+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PCDH15 was added\ngene: PCDH15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)","entity_name":"PCDH15","entity_type":"gene"},{"created":"2023-11-03T16:08:27.571120+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PCCB was added\ngene: PCCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)","entity_name":"PCCB","entity_type":"gene"},{"created":"2023-11-03T16:08:27.296213+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PCCA was added\ngene: PCCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)","entity_name":"PCCA","entity_type":"gene"},{"created":"2023-11-03T16:08:27.075539+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PC was added\ngene: PC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)","entity_name":"PC","entity_type":"gene"},{"created":"2023-11-03T16:08:26.796242+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 15911822\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, MIM#234200","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-11-03T16:08:26.565163+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PAK3 was added\ngene: PAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)","entity_name":"PAK3","entity_type":"gene"},{"created":"2023-11-03T16:08:26.300945+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: PAH was added\ngene: PAH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)","entity_name":"PAH","entity_type":"gene"},{"created":"2023-11-03T16:08:26.075614+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: P3H1 was added\ngene: P3H1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)","entity_name":"P3H1","entity_type":"gene"},{"created":"2023-11-03T16:08:25.598441+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OTC was added\ngene: OTC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)","entity_name":"OTC","entity_type":"gene"},{"created":"2023-11-03T16:08:25.378521+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OSTM1 was added\ngene: OSTM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)","entity_name":"OSTM1","entity_type":"gene"},{"created":"2023-11-03T16:08:25.103156+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OSGEP was added\ngene: OSGEP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive","entity_name":"OSGEP","entity_type":"gene"},{"created":"2023-11-03T16:08:24.874076+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OPHN1 was added\ngene: OPHN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)","entity_name":"OPHN1","entity_type":"gene"},{"created":"2023-11-03T16:08:24.579904+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OPA3 was added\ngene: OPA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)","entity_name":"OPA3","entity_type":"gene"},{"created":"2023-11-03T16:08:24.281627+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OPA1 was added\ngene: OPA1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive","entity_name":"OPA1","entity_type":"gene"},{"created":"2023-11-03T16:08:24.011695+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OFD1 was added\ngene: OFD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)","entity_name":"OFD1","entity_type":"gene"},{"created":"2023-11-03T16:08:23.770847+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: OCRL was added\ngene: OCRL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)","entity_name":"OCRL","entity_type":"gene"},{"created":"2023-11-03T16:08:23.518693+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NTRK1 was added\ngene: NTRK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)","entity_name":"NTRK1","entity_type":"gene"},{"created":"2023-11-03T16:08:23.277647+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NR0B1 was added\ngene: NR0B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)","entity_name":"NR0B1","entity_type":"gene"},{"created":"2023-11-03T16:08:22.998605+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPHS2 was added\ngene: NPHS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)","entity_name":"NPHS2","entity_type":"gene"},{"created":"2023-11-03T16:08:22.581566+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPHS1 was added\ngene: NPHS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)","entity_name":"NPHS1","entity_type":"gene"},{"created":"2023-11-03T16:08:22.298351+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPHP3 was added\ngene: NPHP3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)","entity_name":"NPHP3","entity_type":"gene"},{"created":"2023-11-03T16:08:22.088715+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPHP1 was added\ngene: NPHP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)","entity_name":"NPHP1","entity_type":"gene"},{"created":"2023-11-03T16:08:21.891593+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPC2 was added\ngene: NPC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC2 were set to 29625568; 17470133\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, MIM#607625","entity_name":"NPC2","entity_type":"gene"},{"created":"2023-11-03T16:08:21.671574+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NPC1 was added\ngene: NPC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPC1 were set to 11333381; 26910362\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, MIM#257220","entity_name":"NPC1","entity_type":"gene"},{"created":"2023-11-03T16:08:21.426284+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NNT was added\ngene: NNT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)","entity_name":"NNT","entity_type":"gene"},{"created":"2023-11-03T16:08:21.185424+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NGLY1 was added\ngene: NGLY1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)","entity_name":"NGLY1","entity_type":"gene"},{"created":"2023-11-03T16:08:20.896459+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NEU1 was added\ngene: NEU1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)","entity_name":"NEU1","entity_type":"gene"},{"created":"2023-11-03T16:08:20.681673+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NEB was added\ngene: NEB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEB were set to 27228465\nPhenotypes for gene: NEB were set to Arthrogryposis multiplex congenita 6 (MIM#619334); Nemaline myopathy 2, autosomal recessive (MIM#256030)","entity_name":"NEB","entity_type":"gene"},{"created":"2023-11-03T16:08:20.471926+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFV1 was added\ngene: NDUFV1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)","entity_name":"NDUFV1","entity_type":"gene"},{"created":"2023-11-03T16:08:20.195041+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFS7 was added\ngene: NDUFS7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)","entity_name":"NDUFS7","entity_type":"gene"},{"created":"2023-11-03T16:08:19.976968+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFS6 was added\ngene: NDUFS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)","entity_name":"NDUFS6","entity_type":"gene"},{"created":"2023-11-03T16:08:19.502488+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFS4 was added\ngene: NDUFS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)","entity_name":"NDUFS4","entity_type":"gene"},{"created":"2023-11-03T16:08:19.279843+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFAF5 was added\ngene: NDUFAF5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)","entity_name":"NDUFAF5","entity_type":"gene"},{"created":"2023-11-03T16:08:19.076125+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDUFAF2 was added\ngene: NDUFAF2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2023-11-03T16:08:18.808818+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDRG1 was added\ngene: NDRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)","entity_name":"NDRG1","entity_type":"gene"},{"created":"2023-11-03T16:08:18.582111+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDP was added\ngene: NDP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDP were set to Norrie disease, 310600 (3)","entity_name":"NDP","entity_type":"gene"},{"created":"2023-11-03T16:08:18.364938+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NDE1 was added\ngene: NDE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)","entity_name":"NDE1","entity_type":"gene"},{"created":"2023-11-03T16:08:18.105444+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NCF2 was added\ngene: NCF2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)","entity_name":"NCF2","entity_type":"gene"},{"created":"2023-11-03T16:08:17.881576+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)","entity_name":"NBN","entity_type":"gene"},{"created":"2023-11-03T16:08:17.675875+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NARS2 was added\ngene: NARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)","entity_name":"NARS2","entity_type":"gene"},{"created":"2023-11-03T16:08:17.461627+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NALCN was added\ngene: NALCN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)","entity_name":"NALCN","entity_type":"gene"},{"created":"2023-11-03T16:08:17.196511+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NAGS was added\ngene: NAGS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)","entity_name":"NAGS","entity_type":"gene"},{"created":"2023-11-03T16:08:16.993431+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NAGLU was added\ngene: NAGLU was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)","entity_name":"NAGLU","entity_type":"gene"},{"created":"2023-11-03T16:08:16.701680+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: NAGA was added\ngene: NAGA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)","entity_name":"NAGA","entity_type":"gene"},{"created":"2023-11-03T16:08:16.497247+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MYO7A was added\ngene: MYO7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)","entity_name":"MYO7A","entity_type":"gene"},{"created":"2023-11-03T16:08:16.285797+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MYO5B was added\ngene: MYO5B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)","entity_name":"MYO5B","entity_type":"gene"},{"created":"2023-11-03T16:08:16.079487+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MVK was added\ngene: MVK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)","entity_name":"MVK","entity_type":"gene"},{"created":"2023-11-03T16:08:15.863763+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)","entity_name":"MUT","entity_type":"gene"},{"created":"2023-11-03T16:08:15.392172+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MUSK was added\ngene: MUSK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)","entity_name":"MUSK","entity_type":"gene"},{"created":"2023-11-03T16:08:15.187108+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTTP was added\ngene: MTTP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)","entity_name":"MTTP","entity_type":"gene"},{"created":"2023-11-03T16:08:14.967561+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTRR was added\ngene: MTRR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)","entity_name":"MTRR","entity_type":"gene"},{"created":"2023-11-03T16:08:14.708073+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)","entity_name":"MTR","entity_type":"gene"},{"created":"2023-11-03T16:08:14.499841+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTMR2 was added\ngene: MTMR2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)","entity_name":"MTMR2","entity_type":"gene"},{"created":"2023-11-03T16:08:14.274234+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)","entity_name":"MTM1","entity_type":"gene"},{"created":"2023-11-03T16:08:14.023282+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)","entity_name":"MTHFR","entity_type":"gene"},{"created":"2023-11-03T16:08:13.786910+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MTFMT was added\ngene: MTFMT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)","entity_name":"MTFMT","entity_type":"gene"},{"created":"2023-11-03T16:08:13.370777+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MRE11 was added\ngene: MRE11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)","entity_name":"MRE11","entity_type":"gene"},{"created":"2023-11-03T16:08:13.087001+11:00","panel_name":"Prepair 500+","panel_id":4225,"panel_version":"0.0","user_name":"Seb Lunke","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)","entity_name":"MPV17","entity_type":"gene"}]}