{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=814","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=812","results":[{"created":"2022-06-01T16:50:25.520531+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTTN was added\ngene: RTTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTTN were set to Polymicrogyria with seizures, 614833 (3)","entity_name":"RTTN","entity_type":"gene"},{"created":"2022-06-01T16:50:24.911471+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTN4IP1 was added\ngene: RTN4IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTN4IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTN4IP1 were set to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2022-06-01T16:50:24.520952+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTEL1 was added\ngene: RTEL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)","entity_name":"RTEL1","entity_type":"gene"},{"created":"2022-06-01T16:50:24.203101+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH9 was added\ngene: RSPH9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH9 were set to Ciliary dyskinesia, primary, 12, 612650 (3)","entity_name":"RSPH9","entity_type":"gene"},{"created":"2022-06-01T16:50:23.601044+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH4A was added\ngene: RSPH4A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH4A were set to Ciliary dyskinesia, primary, 11, 612649 (3)","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2022-06-01T16:50:23.207063+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RSPH1 was added\ngene: RSPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RSPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RSPH1 were set to Ciliary dyskinesia, primary, 24, 615481 (3)","entity_name":"RSPH1","entity_type":"gene"},{"created":"2022-06-01T16:50:22.811072+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRM2B was added\ngene: RRM2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)","entity_name":"RRM2B","entity_type":"gene"},{"created":"2022-06-01T16:50:22.217697+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome","entity_name":"RPS6KA3","entity_type":"gene"},{"created":"2022-06-01T16:50:21.814372+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2022-06-01T16:50:21.431587+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to Cone-rod dystrophy 13, 608194 (3)","entity_name":"RPGRIP1","entity_type":"gene"},{"created":"2022-06-01T16:50:20.913319+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPGR was added\ngene: RPGR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPGR were set to Macular degeneration, X-linked atrophic, 300834 (3)","entity_name":"RPGR","entity_type":"gene"},{"created":"2022-06-01T16:50:20.514839+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPE65 was added\ngene: RPE65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)","entity_name":"RPE65","entity_type":"gene"},{"created":"2022-06-01T16:50:20.118964+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RP2 was added\ngene: RP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)","entity_name":"RP2","entity_type":"gene"},{"created":"2022-06-01T16:50:19.597866+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RORC was added\ngene: RORC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RORC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RORC were set to Immunodeficiency 42, 616622 (3), Autosomal recessive","entity_name":"RORC","entity_type":"gene"},{"created":"2022-06-01T16:50:19.209023+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ROR2 was added\ngene: ROR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROR2 were set to Robinow syndrome, autosomal recessive, 268310 (3)","entity_name":"ROR2","entity_type":"gene"},{"created":"2022-06-01T16:50:18.811269+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ROGDI was added\ngene: ROGDI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROGDI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROGDI were set to Kohlschutter-Tonz syndrome, 226750 (3)","entity_name":"ROGDI","entity_type":"gene"},{"created":"2022-06-01T16:50:18.218322+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ROBO3 was added\ngene: ROBO3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ROBO3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ROBO3 were set to Gaze palsy, horizontal, with progressive scoliosis, 607313 (3)","entity_name":"ROBO3","entity_type":"gene"},{"created":"2022-06-01T16:50:17.826697+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I, 210710 (3)","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2022-06-01T16:50:17.436335+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASET2 was added\ngene: RNASET2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASET2 were set to Leukoencephalopathy, cystic, without megalencephaly, 612951 (3)","entity_name":"RNASET2","entity_type":"gene"},{"created":"2022-06-01T16:50:16.825454+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2C was added\ngene: RNASEH2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)","entity_name":"RNASEH2C","entity_type":"gene"},{"created":"2022-06-01T16:50:16.500588+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2B was added\ngene: RNASEH2B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)","entity_name":"RNASEH2B","entity_type":"gene"},{"created":"2022-06-01T16:50:16.109252+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNASEH2A was added\ngene: RNASEH2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)","entity_name":"RNASEH2A","entity_type":"gene"},{"created":"2022-06-01T16:50:15.516467+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RMRP was added\ngene: RMRP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)","entity_name":"RMRP","entity_type":"gene"},{"created":"2022-06-01T16:50:15.118016+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RMND1 was added\ngene: RMND1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)","entity_name":"RMND1","entity_type":"gene"},{"created":"2022-06-01T16:50:14.790521+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RLIM was added\ngene: RLIM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RLIM were set to Mental retardation, X-linked 61, 300978 (3), X-linked recessive","entity_name":"RLIM","entity_type":"gene"},{"created":"2022-06-01T16:50:14.205034+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RIPK4 was added\ngene: RIPK4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome 2, lethal type, 263650 (3)","entity_name":"RIPK4","entity_type":"gene"},{"created":"2022-06-01T16:50:13.809200+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RIN2 was added\ngene: RIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)","entity_name":"RIN2","entity_type":"gene"},{"created":"2022-06-01T16:50:13.422422+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFXAP was added\ngene: RFXAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D, 209920 (3)","entity_name":"RFXAP","entity_type":"gene"},{"created":"2022-06-01T16:50:12.897489+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFXANK was added\ngene: RFXANK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFXANK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFXANK were set to MHC class II deficiency, complementation group B, 209920 (3)","entity_name":"RFXANK","entity_type":"gene"},{"created":"2022-06-01T16:50:12.533100+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFX6 was added\ngene: RFX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710 (3)","entity_name":"RFX6","entity_type":"gene"},{"created":"2022-06-01T16:50:12.127296+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RFT1 was added\ngene: RFT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RFT1 were set to Congenital disorder of glycosylation, type In, 612015 (3)","entity_name":"RFT1","entity_type":"gene"},{"created":"2022-06-01T16:50:11.521038+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RETREG1 was added\ngene: RETREG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RETREG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RETREG1 were set to Neuropathy, hereditary sensory and autonomic, type IIB, 613115 (3)","entity_name":"RETREG1","entity_type":"gene"},{"created":"2022-06-01T16:50:11.205064+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REN was added\ngene: REN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: REN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REN were set to Renal tubular dysgenesis, 267430 (3)","entity_name":"REN","entity_type":"gene"},{"created":"2022-06-01T16:50:10.818021+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: REEP6 was added\ngene: REEP6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: REEP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: REEP6 were set to Retinitis pigmentosa 77, 617304 (3), Autosomal recessive","entity_name":"REEP6","entity_type":"gene"},{"created":"2022-06-01T16:50:10.223562+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RECQL4 was added\ngene: RECQL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RECQL4 were set to Baller-Gerold syndrome, 218600 (3)","entity_name":"RECQL4","entity_type":"gene"},{"created":"2022-06-01T16:50:09.893478+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RDH12 was added\ngene: RDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)","entity_name":"RDH12","entity_type":"gene"},{"created":"2022-06-01T16:50:09.510351+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RD3 was added\ngene: RD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RD3 were set to Leber congenital amaurosis 12, 610612 (3)","entity_name":"RD3","entity_type":"gene"},{"created":"2022-06-01T16:50:09.115941+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RCBTB1 was added\ngene: RCBTB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RCBTB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RCBTB1 were set to Retinal dystrophy with or without extraocular anomalies, 617175 (3), Autosomal recessive","entity_name":"RCBTB1","entity_type":"gene"},{"created":"2022-06-01T16:50:08.528024+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM10 was added\ngene: RBM10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RBM10 were set to TARP syndrome, 311900 (3)","entity_name":"RBM10","entity_type":"gene"},{"created":"2022-06-01T16:50:08.195369+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBCK1 was added\ngene: RBCK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)","entity_name":"RBCK1","entity_type":"gene"},{"created":"2022-06-01T16:50:07.809370+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBBP8 was added\ngene: RBBP8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)","entity_name":"RBBP8","entity_type":"gene"},{"created":"2022-06-01T16:50:07.218758+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAX was added\ngene: RAX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)","entity_name":"RAX","entity_type":"gene"},{"created":"2022-06-01T16:50:06.894437+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RARS2 was added\ngene: RARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)","entity_name":"RARS2","entity_type":"gene"},{"created":"2022-06-01T16:50:06.511463+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RARS was added\ngene: RARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS were set to Leukodystrophy, hypomyelinating, 9, 616140 (3)","entity_name":"RARS","entity_type":"gene"},{"created":"2022-06-01T16:50:05.922939+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RARB was added\ngene: RARB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 (3), Autosomal recessive","entity_name":"RARB","entity_type":"gene"},{"created":"2022-06-01T16:50:05.597282+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAPSN was added\ngene: RAPSN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)","entity_name":"RAPSN","entity_type":"gene"},{"created":"2022-06-01T16:50:05.193051+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAG2 was added\ngene: RAG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)","entity_name":"RAG2","entity_type":"gene"},{"created":"2022-06-01T16:50:04.609794+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAG1 was added\ngene: RAG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)","entity_name":"RAG1","entity_type":"gene"},{"created":"2022-06-01T16:50:04.237941+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD50 was added\ngene: RAD50 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAD50 were set to Nijmegen breakage syndrome-like disorder, 613078 (3)","entity_name":"RAD50","entity_type":"gene"},{"created":"2022-06-01T16:50:03.830965+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2022-06-01T16:50:03.239470+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2022-06-01T16:50:02.805225+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB39B was added\ngene: RAB39B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RAB39B were set to Mental retardation, X-linked 72, 300271 (3)","entity_name":"RAB39B","entity_type":"gene"},{"created":"2022-06-01T16:50:02.323905+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB33B was added\ngene: RAB33B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2, 615222 (3)","entity_name":"RAB33B","entity_type":"gene"},{"created":"2022-06-01T16:50:01.725180+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB27A was added\ngene: RAB27A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB27A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB27A were set to Griscelli syndrome, type 2, 607624 (3)","entity_name":"RAB27A","entity_type":"gene"},{"created":"2022-06-01T16:50:01.349437+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB23 was added\ngene: RAB23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)","entity_name":"RAB23","entity_type":"gene"},{"created":"2022-06-01T16:50:00.932150+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAB18 was added\ngene: RAB18 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)","entity_name":"RAB18","entity_type":"gene"},{"created":"2022-06-01T16:50:00.307455+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: QDPR was added\ngene: QDPR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)","entity_name":"QDPR","entity_type":"gene"},{"created":"2022-06-01T16:49:59.918553+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: QARS was added\ngene: QARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760 (3)","entity_name":"QARS","entity_type":"gene"},{"created":"2022-06-01T16:49:59.602223+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYROXD1 was added\ngene: PYROXD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYROXD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYROXD1 were set to Myopathy, myofibrillar, 8, 617258 (3), Autosomal recessive","entity_name":"PYROXD1","entity_type":"gene"},{"created":"2022-06-01T16:49:59.026529+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYCR2 was added\ngene: PYCR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR2 were set to Leukodystrophy, hypomyelinating, 10, 616420 (3)","entity_name":"PYCR2","entity_type":"gene"},{"created":"2022-06-01T16:49:58.690462+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PYCR1 was added\ngene: PYCR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB, 612940 (3)","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-06-01T16:49:58.313301+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PXDN was added\ngene: PXDN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PXDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PXDN were set to Corneal opacification and other ocular anomalies, 269400 (3)","entity_name":"PXDN","entity_type":"gene"},{"created":"2022-06-01T16:49:57.720180+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUS1 was added\ngene: PUS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)","entity_name":"PUS1","entity_type":"gene"},{"created":"2022-06-01T16:49:57.405884+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTS was added\ngene: PTS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)","entity_name":"PTS","entity_type":"gene"},{"created":"2022-06-01T16:49:57.011150+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTH1R was added\ngene: PTH1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTH1R were set to Chondrodysplasia, Blomstrand type, 215045 (3)","entity_name":"PTH1R","entity_type":"gene"},{"created":"2022-06-01T16:49:56.690434+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSPH was added\ngene: PSPH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency, 614023 (3)","entity_name":"PSPH","entity_type":"gene"},{"created":"2022-06-01T16:49:56.111859+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSMB8 was added\ngene: PSMB8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSMB8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSMB8 were set to Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3)","entity_name":"PSMB8","entity_type":"gene"},{"created":"2022-06-01T16:49:55.715517+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSAT1 was added\ngene: PSAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAT1 were set to Neu-Laxova syndrome 2, 616038 (3)","entity_name":"PSAT1","entity_type":"gene"},{"created":"2022-06-01T16:49:55.395645+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PSAP was added\ngene: PSAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)","entity_name":"PSAP","entity_type":"gene"},{"created":"2022-06-01T16:49:54.802908+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRX was added\ngene: PRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRX were set to Dejerine-Sottas disease, 145900 (3)","entity_name":"PRX","entity_type":"gene"},{"created":"2022-06-01T16:49:54.417257+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRUNE1 was added\ngene: PRUNE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRUNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRUNE1 were set to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3), Autosomal recessive","entity_name":"PRUNE1","entity_type":"gene"},{"created":"2022-06-01T16:49:54.102999+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRPS1 was added\ngene: PRPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)","entity_name":"PRPS1","entity_type":"gene"},{"created":"2022-06-01T16:49:53.516778+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROS1 was added\ngene: PROS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROS1 were set to Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)","entity_name":"PROS1","entity_type":"gene"},{"created":"2022-06-01T16:49:53.202367+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROP1 was added\ngene: PROP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)","entity_name":"PROP1","entity_type":"gene"},{"created":"2022-06-01T16:49:52.819438+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PROC was added\ngene: PROC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)","entity_name":"PROC","entity_type":"gene"},{"created":"2022-06-01T16:49:52.304644+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKRA was added\ngene: PRKRA was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKRA were set to 25142429; 29279192\nPhenotypes for gene: PRKRA were set to Dystonia 16, MIM#612067","entity_name":"PRKRA","entity_type":"gene"},{"created":"2022-06-01T16:49:51.930930+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRICKLE1 was added\ngene: PRICKLE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRICKLE1 were set to Epilepsy, progressive myoclonic 1B, 612437 (3)","entity_name":"PRICKLE1","entity_type":"gene"},{"created":"2022-06-01T16:49:51.606312+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRG4 was added\ngene: PRG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRG4 were set to Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)","entity_name":"PRG4","entity_type":"gene"},{"created":"2022-06-01T16:49:51.022294+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRF1 was added\ngene: PRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)","entity_name":"PRF1","entity_type":"gene"},{"created":"2022-06-01T16:49:50.709509+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRDM5 was added\ngene: PRDM5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)","entity_name":"PRDM5","entity_type":"gene"},{"created":"2022-06-01T16:49:50.320833+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRDM12 was added\ngene: PRDM12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRDM12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM12 were set to Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3), Autosomal recessive","entity_name":"PRDM12","entity_type":"gene"},{"created":"2022-06-01T16:49:50.009155+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PQBP1 was added\ngene: PQBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)","entity_name":"PQBP1","entity_type":"gene"},{"created":"2022-06-01T16:49:49.432745+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPT1 was added\ngene: PPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)","entity_name":"PPT1","entity_type":"gene"},{"created":"2022-06-01T16:49:49.106187+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPIB was added\ngene: PPIB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, #259440","entity_name":"PPIB","entity_type":"gene"},{"created":"2022-06-01T16:49:48.721116+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPA2 was added\ngene: PPA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PPA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPA2 were set to Sudden cardiac failure, infantile, 617222 (3), Autosomal recessive","entity_name":"PPA2","entity_type":"gene"},{"created":"2022-06-01T16:49:48.213029+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POU1F1 was added\ngene: POU1F1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)","entity_name":"POU1F1","entity_type":"gene"},{"created":"2022-06-01T16:49:47.824937+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POR was added\ngene: POR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)","entity_name":"POR","entity_type":"gene"},{"created":"2022-06-01T16:49:47.505799+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POP1 was added\ngene: POP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POP1 were set to Anauxetic dysplasia 2, 617396 (3), Autosomal recessive","entity_name":"POP1","entity_type":"gene"},{"created":"2022-06-01T16:49:46.922002+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT2 was added\ngene: POMT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)","entity_name":"POMT2","entity_type":"gene"},{"created":"2022-06-01T16:49:46.594870+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMT1 was added\ngene: POMT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)","entity_name":"POMT1","entity_type":"gene"},{"created":"2022-06-01T16:49:46.217450+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMP was added\ngene: POMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMP were set to Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, 601952 (3)","entity_name":"POMP","entity_type":"gene"},{"created":"2022-06-01T16:49:45.629173+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMK was added\ngene: POMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249 (3)","entity_name":"POMK","entity_type":"gene"},{"created":"2022-06-01T16:49:45.309138+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMGNT2 was added\ngene: POMGNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3)","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2022-06-01T16:49:44.918102+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMGNT1 was added\ngene: POMGNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMGNT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)","entity_name":"POMGNT1","entity_type":"gene"},{"created":"2022-06-01T16:49:44.404888+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POMC was added\ngene: POMC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POMC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POMC were set to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3)","entity_name":"POMC","entity_type":"gene"},{"created":"2022-06-01T16:49:44.029955+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR3B was added\ngene: POLR3B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3B were set to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)","entity_name":"POLR3B","entity_type":"gene"},{"created":"2022-06-01T16:49:43.709515+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR3A was added\ngene: POLR3A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 (3)","entity_name":"POLR3A","entity_type":"gene"},{"created":"2022-06-01T16:49:43.395113+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLR1C was added\ngene: POLR1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLR1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR1C were set to Treacher Collins syndrome 3, 248390 (3)","entity_name":"POLR1C","entity_type":"gene"},{"created":"2022-06-01T16:49:42.817919+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3)","entity_name":"POLG","entity_type":"gene"},{"created":"2022-06-01T16:49:42.502341+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: POC1A was added\ngene: POC1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POC1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POC1A were set to Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 (3)","entity_name":"POC1A","entity_type":"gene"}]}