{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1841","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1839","results":[{"created":"2020-04-19T20:58:20.253083+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NDE1 was added\ngene: NDE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:19.640299+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCF2 was added\ngene: NCF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:19.034661+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NCF1 was added\ngene: NCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)","entity_name":"NCF1","entity_type":"gene"},{"created":"2020-04-19T20:58:18.147594+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBN was added\ngene: NBN was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:17.547488+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBAS was added\ngene: NBAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)","entity_name":"NBAS","entity_type":"gene"},{"created":"2020-04-19T20:58:16.949305+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAXE was added\ngene: NAXE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-04-19T20:58:16.349737+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NARS2 was added\ngene: NARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:15.434097+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NANS was added\ngene: NANS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive","entity_name":"NANS","entity_type":"gene"},{"created":"2020-04-19T20:58:14.851957+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NALCN was added\ngene: NALCN was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:14.345882+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGS was added\ngene: NAGS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:13.819911+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGLU was added\ngene: NAGLU was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:12.953345+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAGA was added\ngene: NAGA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:12.349131+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NAA10 was added\ngene: NAA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-04-19T20:58:11.759175+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO7A was added\ngene: MYO7A was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:11.151886+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYO5B was added\ngene: MYO5B was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:10.342205+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYMK was added\ngene: MYMK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive","entity_name":"MYMK","entity_type":"gene"},{"created":"2020-04-19T20:58:09.719911+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYD88 was added\ngene: MYD88 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)","entity_name":"MYD88","entity_type":"gene"},{"created":"2020-04-19T20:58:09.048516+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MVK was added\ngene: MVK was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:08.453431+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUSK was added\ngene: MUSK was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:07.529526+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTTP was added\ngene: MTTP was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:06.856241+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTRR was added\ngene: MTRR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:05.999103+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTR was added\ngene: MTR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:05.251886+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTO1 was added\ngene: MTO1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)","entity_name":"MTO1","entity_type":"gene"},{"created":"2020-04-19T20:58:04.425926+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTMR2 was added\ngene: MTMR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:03.759107+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTM1 was added\ngene: MTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:03.156110+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTHFR was added\ngene: MTHFR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:02.529087+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTHFD1 was added\ngene: MTHFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive","entity_name":"MTHFD1","entity_type":"gene"},{"created":"2020-04-19T20:58:01.531807+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MTFMT was added\ngene: MTFMT was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:00.855048+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRE11 was added\ngene: MRE11 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:58:00.248856+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MRAP was added\ngene: MRAP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)","entity_name":"MRAP","entity_type":"gene"},{"created":"2020-04-19T20:57:59.647616+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPZ was added\ngene: MPZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)","entity_name":"MPZ","entity_type":"gene"},{"created":"2020-04-19T20:57:58.649977+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPV17 was added\ngene: MPV17 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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"},{"created":"2020-04-19T20:57:58.051954+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPLKIP was added\ngene: MPLKIP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2020-04-19T20:57:57.549027+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPL was added\ngene: MPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)","entity_name":"MPL","entity_type":"gene"},{"created":"2020-04-19T20:57:56.960059+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPI was added\ngene: MPI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)","entity_name":"MPI","entity_type":"gene"},{"created":"2020-04-19T20:57:56.050538+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPDZ was added\ngene: MPDZ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)","entity_name":"MPDZ","entity_type":"gene"},{"created":"2020-04-19T20:57:55.521619+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS2 was added\ngene: MOCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)","entity_name":"MOCS2","entity_type":"gene"},{"created":"2020-04-19T20:57:54.835657+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MOCS1 was added\ngene: MOCS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)","entity_name":"MOCS1","entity_type":"gene"},{"created":"2020-04-19T20:57:54.148717+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Mackenzie's Mission_Reproductive Carrier Screening. 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":"2020-04-19T20:57:53.129116+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMP21 was added\ngene: MMP21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive","entity_name":"MMP21","entity_type":"gene"},{"created":"2020-04-19T20:57:52.442668+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMP2 was added\ngene: MMP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)","entity_name":"MMP2","entity_type":"gene"},{"created":"2020-04-19T20:57:51.763705+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMADHC was added\ngene: MMADHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)","entity_name":"MMADHC","entity_type":"gene"},{"created":"2020-04-19T20:57:51.248915+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMACHC was added\ngene: MMACHC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)","entity_name":"MMACHC","entity_type":"gene"},{"created":"2020-04-19T20:57:50.445795+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAB was added\ngene: MMAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)","entity_name":"MMAB","entity_type":"gene"},{"created":"2020-04-19T20:57:49.844797+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MMAA was added\ngene: MMAA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)","entity_name":"MMAA","entity_type":"gene"},{"created":"2020-04-19T20:57:49.236916+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLYCD was added\ngene: MLYCD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)","entity_name":"MLYCD","entity_type":"gene"},{"created":"2020-04-19T20:57:48.547191+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MLC1 was added\ngene: MLC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)","entity_name":"MLC1","entity_type":"gene"},{"created":"2020-04-19T20:57:47.851040+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKS1 was added\ngene: MKS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)","entity_name":"MKS1","entity_type":"gene"},{"created":"2020-04-19T20:57:46.967705+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKKS was added\ngene: MKKS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)","entity_name":"MKKS","entity_type":"gene"},{"created":"2020-04-19T20:57:46.345405+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MID1 was added\ngene: MID1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)","entity_name":"MID1","entity_type":"gene"},{"created":"2020-04-19T20:57:45.759820+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MICU1 was added\ngene: MICU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)","entity_name":"MICU1","entity_type":"gene"},{"created":"2020-04-19T20:57:45.141240+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGP was added\ngene: MGP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)","entity_name":"MGP","entity_type":"gene"},{"created":"2020-04-19T20:57:44.248695+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGME1 was added\ngene: MGME1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)","entity_name":"MGME1","entity_type":"gene"},{"created":"2020-04-19T20:57:43.648476+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MGAT2 was added\ngene: MGAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)","entity_name":"MGAT2","entity_type":"gene"},{"created":"2020-04-19T20:57:43.045808+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFSD8 was added\ngene: MFSD8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)","entity_name":"MFSD8","entity_type":"gene"},{"created":"2020-04-19T20:57:42.431733+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFSD2A was added\ngene: MFSD2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive","entity_name":"MFSD2A","entity_type":"gene"},{"created":"2020-04-19T20:57:41.449157+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MFN2 was added\ngene: MFN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive","entity_name":"MFN2","entity_type":"gene"},{"created":"2020-04-19T20:57:40.849823+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: METTL23 was added\ngene: METTL23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)","entity_name":"METTL23","entity_type":"gene"},{"created":"2020-04-19T20:57:40.347913+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MESP2 was added\ngene: MESP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)","entity_name":"MESP2","entity_type":"gene"},{"created":"2020-04-19T20:57:39.751967+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MERTK was added\ngene: MERTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)","entity_name":"MERTK","entity_type":"gene"},{"created":"2020-04-19T20:57:38.938324+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEGF8 was added\ngene: MEGF8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)","entity_name":"MEGF8","entity_type":"gene"},{"created":"2020-04-19T20:57:38.351982+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEGF10 was added\ngene: MEGF10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)","entity_name":"MEGF10","entity_type":"gene"},{"created":"2020-04-19T20:57:37.750279+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED25 was added\ngene: MED25 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)","entity_name":"MED25","entity_type":"gene"},{"created":"2020-04-19T20:57:37.146811+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED23 was added\ngene: MED23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)","entity_name":"MED23","entity_type":"gene"},{"created":"2020-04-19T20:57:36.547137+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED17 was added\ngene: MED17 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)","entity_name":"MED17","entity_type":"gene"},{"created":"2020-04-19T20:57:35.665309+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MED12 was added\ngene: MED12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)","entity_name":"MED12","entity_type":"gene"},{"created":"2020-04-19T20:57:35.150911+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MECP2 was added\ngene: MECP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)","entity_name":"MECP2","entity_type":"gene"},{"created":"2020-04-19T20:57:34.652315+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCPH1 was added\ngene: MCPH1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)","entity_name":"MCPH1","entity_type":"gene"},{"created":"2020-04-19T20:57:34.145910+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCOLN1 was added\ngene: MCOLN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)","entity_name":"MCOLN1","entity_type":"gene"},{"created":"2020-04-19T20:57:33.251396+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCM4 was added\ngene: MCM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)","entity_name":"MCM4","entity_type":"gene"},{"created":"2020-04-19T20:57:32.731501+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MCFD2 was added\ngene: MCFD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)","entity_name":"MCFD2","entity_type":"gene"},{"created":"2020-04-19T20:57:32.137459+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MC2R was added\ngene: MC2R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)","entity_name":"MC2R","entity_type":"gene"},{"created":"2020-04-19T20:57:31.548202+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBTPS2 was added\ngene: MBTPS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)","entity_name":"MBTPS2","entity_type":"gene"},{"created":"2020-04-19T20:57:30.634039+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MBOAT7 was added\ngene: MBOAT7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)","entity_name":"MBOAT7","entity_type":"gene"},{"created":"2020-04-19T20:57:30.053662+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MASP1 was added\ngene: MASP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)","entity_name":"MASP1","entity_type":"gene"},{"created":"2020-04-19T20:57:29.431245+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARS2 was added\ngene: MARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)","entity_name":"MARS2","entity_type":"gene"},{"created":"2020-04-19T20:57:28.821598+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MARS was added\ngene: MARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)","entity_name":"MARS","entity_type":"gene"},{"created":"2020-04-19T20:57:27.921631+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAPKBP1 was added\ngene: MAPKBP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive","entity_name":"MAPKBP1","entity_type":"gene"},{"created":"2020-04-19T20:57:27.348692+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAOA was added\ngene: MAOA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)","entity_name":"MAOA","entity_type":"gene"},{"created":"2020-04-19T20:57:26.834856+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MANBA was added\ngene: MANBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)","entity_name":"MANBA","entity_type":"gene"},{"created":"2020-04-19T20:57:26.245498+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN2B1 was added\ngene: MAN2B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)","entity_name":"MAN2B1","entity_type":"gene"},{"created":"2020-04-19T20:57:25.646631+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MAN1B1 was added\ngene: MAN1B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)","entity_name":"MAN1B1","entity_type":"gene"},{"created":"2020-04-19T20:57:24.847596+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MALT1 was added\ngene: MALT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)","entity_name":"MALT1","entity_type":"gene"},{"created":"2020-04-19T20:57:24.256892+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LZTFL1 was added\ngene: LZTFL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)","entity_name":"LZTFL1","entity_type":"gene"},{"created":"2020-04-19T20:57:23.744639+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYST was added\ngene: LYST was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)","entity_name":"LYST","entity_type":"gene"},{"created":"2020-04-19T20:57:23.247056+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYRM7 was added\ngene: LYRM7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive","entity_name":"LYRM7","entity_type":"gene"},{"created":"2020-04-19T20:57:22.352178+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LTBP4 was added\ngene: LTBP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)","entity_name":"LTBP4","entity_type":"gene"},{"created":"2020-04-19T20:57:21.751908+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LTBP3 was added\ngene: LTBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)","entity_name":"LTBP3","entity_type":"gene"},{"created":"2020-04-19T20:57:21.186983+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRSAM1 was added\ngene: LRSAM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)","entity_name":"LRSAM1","entity_type":"gene"},{"created":"2020-04-19T20:57:20.561979+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRRC6 was added\ngene: LRRC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)","entity_name":"LRRC6","entity_type":"gene"},{"created":"2020-04-19T20:57:19.748020+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRPPRC was added\ngene: LRPPRC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)","entity_name":"LRPPRC","entity_type":"gene"},{"created":"2020-04-19T20:57:19.148994+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP5 was added\ngene: LRP5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)","entity_name":"LRP5","entity_type":"gene"},{"created":"2020-04-19T20:57:18.550607+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP4 was added\ngene: LRP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)","entity_name":"LRP4","entity_type":"gene"},{"created":"2020-04-19T20:57:17.946359+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRP2 was added\ngene: LRP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)","entity_name":"LRP2","entity_type":"gene"},{"created":"2020-04-19T20:57:17.452379+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRMDA was added\ngene: LRMDA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)","entity_name":"LRMDA","entity_type":"gene"},{"created":"2020-04-19T20:57:16.650710+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRIG2 was added\ngene: LRIG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)","entity_name":"LRIG2","entity_type":"gene"},{"created":"2020-04-19T20:57:16.139881+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRBA was added\ngene: LRBA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)","entity_name":"LRBA","entity_type":"gene"},{"created":"2020-04-19T20:57:15.533646+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LRAT was added\ngene: LRAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)","entity_name":"LRAT","entity_type":"gene"},{"created":"2020-04-19T20:57:14.948261+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LPL was added\ngene: LPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)","entity_name":"LPL","entity_type":"gene"},{"created":"2020-04-19T20:57:14.149336+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LPIN2 was added\ngene: LPIN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)","entity_name":"LPIN2","entity_type":"gene"}]}