{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1846","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1844","results":[{"created":"2020-04-19T20:54:12.345753+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: CPT2 was added\ngene: CPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)","entity_name":"CPT2","entity_type":"gene"},{"created":"2020-04-19T20:54:12.066439+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: CPT1A was added\ngene: CPT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)","entity_name":"CPT1A","entity_type":"gene"},{"created":"2020-04-19T20:54:11.853656+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: CPS1 was added\ngene: CPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)","entity_name":"CPS1","entity_type":"gene"},{"created":"2020-04-19T20:54:11.627236+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: C5orf42 was added\ngene: C5orf42 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-04-19T20:54:11.331557+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: COX20 was added\ngene: COX20 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX20 were set to Mitochondrial complex IV deficiency, 220110 (3)","entity_name":"COX20","entity_type":"gene"},{"created":"2020-04-19T20:54:11.021427+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: COX15 was added\ngene: COX15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)","entity_name":"COX15","entity_type":"gene"},{"created":"2020-04-19T20:54:10.765720+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: COX10 was added\ngene: COX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX10 were set to Leigh syndrome due to mitochondrial COX4 deficiency, 256000 (3)","entity_name":"COX10","entity_type":"gene"},{"created":"2020-04-19T20:54:10.540393+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: COQ8B was added\ngene: COQ8B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573 (3)","entity_name":"COQ8B","entity_type":"gene"},{"created":"2020-04-19T20:54:10.236067+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: COQ8A was added\ngene: COQ8A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, primary, 4, 612016 (3)","entity_name":"COQ8A","entity_type":"gene"},{"created":"2020-04-19T20:54:09.947530+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: COQ6 was added\ngene: COQ6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650 (3)","entity_name":"COQ6","entity_type":"gene"},{"created":"2020-04-19T20:54:09.661764+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: COQ4 was added\ngene: COQ4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COQ4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ4 were set to Coenzyme Q10 deficiency, primary, 7, 616276 (3)","entity_name":"COQ4","entity_type":"gene"},{"created":"2020-04-19T20:54:09.452932+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: COQ2 was added\ngene: COQ2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1, 607426 (3)","entity_name":"COQ2","entity_type":"gene"},{"created":"2020-04-19T20:54:09.236742+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: COLQ was added\ngene: COLQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)","entity_name":"COLQ","entity_type":"gene"},{"created":"2020-04-19T20:54:08.961969+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: COLEC11 was added\ngene: COLEC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)","entity_name":"COLEC11","entity_type":"gene"},{"created":"2020-04-19T20:54:08.742843+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: COL7A1 was added\ngene: COL7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)","entity_name":"COL7A1","entity_type":"gene"},{"created":"2020-04-19T20:54:08.152748+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: COL6A3 was added\ngene: COL6A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A3 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)","entity_name":"COL6A3","entity_type":"gene"},{"created":"2020-04-19T20:54:07.855842+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: COL6A2 was added\ngene: COL6A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL6A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A2 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)","entity_name":"COL6A2","entity_type":"gene"},{"created":"2020-04-19T20:54:07.569826+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: COL6A1 was added\ngene: COL6A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)","entity_name":"COL6A1","entity_type":"gene"},{"created":"2020-04-19T20:54:07.342069+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: COL4A5 was added\ngene: COL4A5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: COL4A5 were set to Alport syndrome 1, X-linked","entity_name":"COL4A5","entity_type":"gene"},{"created":"2020-04-19T20:54:07.061808+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: COL4A4 was added\ngene: COL4A4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)","entity_name":"COL4A4","entity_type":"gene"},{"created":"2020-04-19T20:54:06.855959+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: COL4A3 was added\ngene: COL4A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)","entity_name":"COL4A3","entity_type":"gene"},{"created":"2020-04-19T20:54:06.638521+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: COL2A1 was added\ngene: COL2A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL2A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL2A1 were set to Otospondylomegaepiphyseal dysplasia, 215150 (3)","entity_name":"COL2A1","entity_type":"gene"},{"created":"2020-04-19T20:54:06.364397+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: COL27A1 was added\ngene: COL27A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL27A1 were set to Steel Syndrome","entity_name":"COL27A1","entity_type":"gene"},{"created":"2020-04-19T20:54:06.146091+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: COL18A1 was added\ngene: COL18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)","entity_name":"COL18A1","entity_type":"gene"},{"created":"2020-04-19T20:54:05.856480+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: COL17A1 was added\ngene: COL17A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)","entity_name":"COL17A1","entity_type":"gene"},{"created":"2020-04-19T20:54:05.653975+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: COL11A2 was added\ngene: COL11A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-04-19T20:54:05.443741+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: COL11A1 was added\ngene: COL11A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A1 were set to Fibrochondrogenesis 1, 228520 (3)","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-04-19T20:54:05.171661+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: COG7 was added\ngene: COG7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COG7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG7 were set to Congenital disorder of glycosylation, type IIe, 608779 (3)","entity_name":"COG7","entity_type":"gene"},{"created":"2020-04-19T20:54:04.957006+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: COG6 was added\ngene: COG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576 (3)","entity_name":"COG6","entity_type":"gene"},{"created":"2020-04-19T20:54:04.653437+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: APOPT1 was added\ngene: APOPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: APOPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APOPT1 were set to Mitochondrial complex IV deficiency, 220110 (3)","entity_name":"APOPT1","entity_type":"gene"},{"created":"2020-04-19T20:54:04.430978+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: CNTNAP2 was added\ngene: CNTNAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNTNAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP2 were set to Cortical dysplasia-focal epilepsy syndrome, 610042 (3)","entity_name":"CNTNAP2","entity_type":"gene"},{"created":"2020-04-19T20:54:04.156255+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: CNTNAP1 was added\ngene: CNTNAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNTNAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNTNAP1 were set to Lethal congenital contracture syndrome 7, 616286 (3)","entity_name":"CNTNAP1","entity_type":"gene"},{"created":"2020-04-19T20:54:03.931322+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: CNNM4 was added\ngene: CNNM4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNNM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNNM4 were set to Jalili syndrome, 217080 (3)","entity_name":"CNNM4","entity_type":"gene"},{"created":"2020-04-19T20:54:03.655818+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: CNGB3 was added\ngene: CNGB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)","entity_name":"CNGB3","entity_type":"gene"},{"created":"2020-04-19T20:54:03.452873+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: CNGA3 was added\ngene: CNGA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNGA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGA3 were set to Achromatopsia-2, 216900 (3)","entity_name":"CNGA3","entity_type":"gene"},{"created":"2020-04-19T20:54:03.147668+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: CLRN1 was added\ngene: CLRN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)","entity_name":"CLRN1","entity_type":"gene"},{"created":"2020-04-19T20:54:02.855232+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: CLPP was added\ngene: CLPP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPP were set to Perrault syndrome 3, 614129 (3)","entity_name":"CLPP","entity_type":"gene"},{"created":"2020-04-19T20:54:02.648784+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: CLPB was added\ngene: CLPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)","entity_name":"CLPB","entity_type":"gene"},{"created":"2020-04-19T20:54:02.354011+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: CLP1 was added\ngene: CLP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)","entity_name":"CLP1","entity_type":"gene"},{"created":"2020-04-19T20:54:02.066755+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: CLN8 was added\ngene: CLN8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)","entity_name":"CLN8","entity_type":"gene"},{"created":"2020-04-19T20:54:01.860708+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: CLN6 was added\ngene: CLN6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)","entity_name":"CLN6","entity_type":"gene"},{"created":"2020-04-19T20:54:01.654125+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: CLN5 was added\ngene: CLN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)","entity_name":"CLN5","entity_type":"gene"},{"created":"2020-04-19T20:54:01.434283+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: CLN3 was added\ngene: CLN3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-04-19T20:54:01.155620+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: CLMP was added\ngene: CLMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLMP were set to Congenital short bowel syndrome, 615237 (3)","entity_name":"CLMP","entity_type":"gene"},{"created":"2020-04-19T20:54:00.949062+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: CLDN19 was added\ngene: CLDN19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN19 were set to Hypomagnesemia 5, renal, with ocular involvement, 248190 (3)","entity_name":"CLDN19","entity_type":"gene"},{"created":"2020-04-19T20:54:00.356637+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: CLDN10 was added\ngene: CLDN10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN10 were set to HELIX syndrome, 617671 (3), Autosomal recessive","entity_name":"CLDN10","entity_type":"gene"},{"created":"2020-04-19T20:54:00.055287+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: CLDN1 was added\ngene: CLDN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLDN1 were set to Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)","entity_name":"CLDN1","entity_type":"gene"},{"created":"2020-04-19T20:53:59.827211+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: CLCNKB was added\ngene: CLCNKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCNKB were set to Bartter syndrome, type 4b, digenic, 613090 (3)","entity_name":"CLCNKB","entity_type":"gene"},{"created":"2020-04-19T20:53:59.549023+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: CLCN7 was added\ngene: CLCN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)","entity_name":"CLCN7","entity_type":"gene"},{"created":"2020-04-19T20:53:59.339897+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: CLCN5 was added\ngene: CLCN5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)","entity_name":"CLCN5","entity_type":"gene"},{"created":"2020-04-19T20:53:59.043873+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: CLCN4 was added\ngene: CLCN4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN4 were set to Mental retardation, X-linked 49/15, 300114 (3), X-linked recessive","entity_name":"CLCN4","entity_type":"gene"},{"created":"2020-04-19T20:53:58.752994+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: CLCN2 was added\ngene: CLCN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN2 were set to Leukoencephalopathy with ataxia, 615651 (3)","entity_name":"CLCN2","entity_type":"gene"},{"created":"2020-04-19T20:53:58.547942+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: CLCF1 was added\ngene: CLCF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCF1 were set to Cold-induced sweating syndrome 2, 610313 (3)","entity_name":"CLCF1","entity_type":"gene"},{"created":"2020-04-19T20:53:58.333242+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: CKAP2L was added\ngene: CKAP2L was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)","entity_name":"CKAP2L","entity_type":"gene"},{"created":"2020-04-19T20:53:58.045599+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: CIT was added\ngene: CIT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CIT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIT were set to Microcephaly 17, primary, autosomal recessive, 617090 (3)","entity_name":"CIT","entity_type":"gene"},{"created":"2020-04-19T20:53:57.752337+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: CISD2 was added\ngene: CISD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928 (3)","entity_name":"CISD2","entity_type":"gene"},{"created":"2020-04-19T20:53:57.536038+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: CIITA was added\ngene: CIITA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)","entity_name":"CIITA","entity_type":"gene"},{"created":"2020-04-19T20:53:57.336607+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: CIB2 was added\ngene: CIB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CIB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIB2 were set to Usher syndrome, type IJ, 614869 (3)","entity_name":"CIB2","entity_type":"gene"},{"created":"2020-04-19T20:53:57.048055+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: CHSY1 was added\ngene: CHSY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHSY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHSY1 were set to Temtamy preaxial brachydactyly syndrome, 605282 (3)","entity_name":"CHSY1","entity_type":"gene"},{"created":"2020-04-19T20:53:56.832985+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: CHST3 was added\ngene: CHST3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHST3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST3 were set to Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)","entity_name":"CHST3","entity_type":"gene"},{"created":"2020-04-19T20:53:56.554756+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: CHST14 was added\ngene: CHST14 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3)","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-04-19T20:53:56.252075+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: CHRNG was added\ngene: CHRNG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)","entity_name":"CHRNG","entity_type":"gene"},{"created":"2020-04-19T20:53:56.047869+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: CHRNE was added\ngene: CHRNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)","entity_name":"CHRNE","entity_type":"gene"},{"created":"2020-04-19T20:53:55.847969+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: CHRND was added\ngene: CHRND was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRND were set to Myasthenic syndrome, congenital, 3B, fast-channel, 616322 (3)","entity_name":"CHRND","entity_type":"gene"},{"created":"2020-04-19T20:53:55.641722+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: CHRNA1 was added\ngene: CHRNA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRNA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNA1 were set to Multiple pterygium syndrome, lethal type, 253290 (3)","entity_name":"CHRNA1","entity_type":"gene"},{"created":"2020-04-19T20:53:55.345041+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: CHM was added\ngene: CHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CHM were set to Choroideremia","entity_name":"CHM","entity_type":"gene"},{"created":"2020-04-19T20:53:55.130870+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: CHKB was added\ngene: CHKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, 602541 (3)","entity_name":"CHKB","entity_type":"gene"},{"created":"2020-04-19T20:53:54.841571+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: CHAT was added\ngene: CHAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)","entity_name":"CHAT","entity_type":"gene"},{"created":"2020-04-19T20:53:54.559639+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: CFTR was added\ngene: CFTR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-19T20:53:54.347461+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: CFP was added\ngene: CFP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CFP were set to Properdin deficiency, X-linked, 312060 (3)","entity_name":"CFP","entity_type":"gene"},{"created":"2020-04-19T20:53:54.125289+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: CFL2 was added\ngene: CFL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, 610687 (3)","entity_name":"CFL2","entity_type":"gene"},{"created":"2020-04-19T20:53:53.858525+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: CFI was added\ngene: CFI was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)","entity_name":"CFI","entity_type":"gene"},{"created":"2020-04-19T20:53:53.659445+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: CFH was added\ngene: CFH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)","entity_name":"CFH","entity_type":"gene"},{"created":"2020-04-19T20:53:53.448265+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: CFD was added\ngene: CFD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)","entity_name":"CFD","entity_type":"gene"},{"created":"2020-04-19T20:53:53.243572+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: C21orf2 was added\ngene: C21orf2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive","entity_name":"C21orf2","entity_type":"gene"},{"created":"2020-04-19T20:53:53.038685+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: CERS3 was added\ngene: CERS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)","entity_name":"CERS3","entity_type":"gene"},{"created":"2020-04-19T20:53:52.841882+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: CEP78 was added\ngene: CEP78 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive","entity_name":"CEP78","entity_type":"gene"},{"created":"2020-04-19T20:53:52.627616+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: CEP41 was added\ngene: CEP41 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)","entity_name":"CEP41","entity_type":"gene"},{"created":"2020-04-19T20:53:52.352287+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: CEP290 was added\ngene: CEP290 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)","entity_name":"CEP290","entity_type":"gene"},{"created":"2020-04-19T20:53:52.131183+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: CEP152 was added\ngene: CEP152 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)","entity_name":"CEP152","entity_type":"gene"},{"created":"2020-04-19T20:53:51.851628+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: CEP120 was added\ngene: CEP120 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)","entity_name":"CEP120","entity_type":"gene"},{"created":"2020-04-19T20:53:51.650196+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: CENPJ was added\ngene: CENPJ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)","entity_name":"CENPJ","entity_type":"gene"},{"created":"2020-04-19T20:53:51.444263+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: CDT1 was added\ngene: CDT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)","entity_name":"CDT1","entity_type":"gene"},{"created":"2020-04-19T20:53:51.230456+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: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)","entity_name":"CDK5RAP2","entity_type":"gene"},{"created":"2020-04-19T20:53:50.970642+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: CDK10 was added\ngene: CDK10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive","entity_name":"CDK10","entity_type":"gene"},{"created":"2020-04-19T20:53:50.764206+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: CDH3 was added\ngene: CDH3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)","entity_name":"CDH3","entity_type":"gene"},{"created":"2020-04-19T20:53:50.550783+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: CDH23 was added\ngene: CDH23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)","entity_name":"CDH23","entity_type":"gene"},{"created":"2020-04-19T20:53:50.342475+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: CDH11 was added\ngene: CDH11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive","entity_name":"CDH11","entity_type":"gene"},{"created":"2020-04-19T20:53:50.147564+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: CDC45 was added\ngene: CDC45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive","entity_name":"CDC45","entity_type":"gene"},{"created":"2020-04-19T20:53:49.840184+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: CD81 was added\ngene: CD81 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, 613496 (3)","entity_name":"CD81","entity_type":"gene"},{"created":"2020-04-19T20:53:49.551569+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: CD55 was added\ngene: CD55 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive","entity_name":"CD55","entity_type":"gene"},{"created":"2020-04-19T20:53:49.252199+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: CD40LG was added\ngene: CD40LG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)","entity_name":"CD40LG","entity_type":"gene"},{"created":"2020-04-19T20:53:49.042624+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: CD40 was added\ngene: CD40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)","entity_name":"CD40","entity_type":"gene"},{"created":"2020-04-19T20:53:48.846595+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: CD3D was added\ngene: CD3D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)","entity_name":"CD3D","entity_type":"gene"},{"created":"2020-04-19T20:53:48.652660+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: CD27 was added\ngene: CD27 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)","entity_name":"CD27","entity_type":"gene"},{"created":"2020-04-19T20:53:48.441667+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: CCNO was added\ngene: CCNO was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)","entity_name":"CCNO","entity_type":"gene"},{"created":"2020-04-19T20:53:48.231378+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: WISP3 was added\ngene: WISP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)","entity_name":"WISP3","entity_type":"gene"},{"created":"2020-04-19T20:53:47.965108+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: CCDC88C was added\ngene: CCDC88C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)","entity_name":"CCDC88C","entity_type":"gene"},{"created":"2020-04-19T20:53:47.752812+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: CCDC8 was added\ngene: CCDC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)","entity_name":"CCDC8","entity_type":"gene"},{"created":"2020-04-19T20:53:47.251158+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: CCDC40 was added\ngene: CCDC40 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)","entity_name":"CCDC40","entity_type":"gene"}]}