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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=814",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=812",
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{
"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"
}
]
}