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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=815",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=813",
"results": [
{
"created": "2022-06-01T16:49:42.121309+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPO was added\ngene: PNPO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:41.608282+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNPLA6 were set to Boucher-Neuhauser syndrome, 215470 (3)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:41.292346+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNP was added\ngene: PNP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:40.919250+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PNKP was added\ngene: PNKP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PNKP were set to Microcephaly, seizures, and developmental delay, 613402 (3)",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:40.405944+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMPCA was added\ngene: PMPCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMPCA were set to Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)",
"entity_name": "PMPCA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:40.022938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia, 212065 (3)",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:39.713386+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLPBP was added\ngene: PLPBP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLPBP were set to Epilepsy, early-onset, vitamin B6-dependent, 617290 (3), Autosomal recessive",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:39.403498+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, 312080 (3)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:38.820447+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD2 were set to Bruck syndrome 2, 609220 (3)",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:38.513693+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLOD1 was added\ngene: PLOD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLOD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLOD1 were set to Ehlers-Danlos syndrome, type VI, 225400 (3)",
"entity_name": "PLOD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:38.204883+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLG was added\ngene: PLG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLG were set to Plasminogen deficiency, type I, 217090 (3)",
"entity_name": "PLG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:37.627745+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLEC was added\ngene: PLEC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLEC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLEC were set to Epidermolysis bullosa simplex with pyloric atresia, 612138 (3)",
"entity_name": "PLEC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:37.313615+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLCE1 was added\ngene: PLCE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3, 610725 (3)",
"entity_name": "PLCE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:37.003551+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLAA was added\ngene: PLAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLAA were set to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3), Autosomal recessive",
"entity_name": "PLAA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:36.619321+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLA2G6 was added\ngene: PLA2G6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217 (3)",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:36.115637+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKLR was added\ngene: PKLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKLR were set to Pyruvate kinase deficiency, 266200 (3)",
"entity_name": "PKLR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:35.794975+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PKHD1 was added\ngene: PKHD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PKHD1 were set to Polycystic kidney and hepatic disease, 263200 (3)",
"entity_name": "PKHD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:35.420617+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIH1D3 was added\ngene: PIH1D3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked, 300991 (3), X-linked recessive",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:34.913335+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGV was added\ngene: PIGV was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGV was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGV were set to Hyperphosphatasia with mental retardation syndrome 1, 239300 (3)",
"entity_name": "PIGV",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:34.592342+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGT was added\ngene: PIGT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGT were set to Multiple congenital anomalies-hypotonia-seizures syndrome 3",
"entity_name": "PIGT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:34.218519+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGO was added\ngene: PIGO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGO were set to Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)",
"entity_name": "PIGO",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:33.693923+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGN was added\ngene: PIGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGN were set to Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)",
"entity_name": "PIGN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:33.315853+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGL was added\ngene: PIGL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGL were set to CHIME syndrome, 280000 (3)",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:33.009273+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGG was added\ngene: PIGG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIGG were set to Mental retardation, autosomal recessive 53, 616917 (3)",
"entity_name": "PIGG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:32.690585+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIGA was added\ngene: PIGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PIGA were set to Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3)",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:32.113281+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PIEZO2 was added\ngene: PIEZO2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PIEZO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PIEZO2 were set to Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3), Autosomal recessive",
"entity_name": "PIEZO2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:31.805237+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHYH was added\ngene: PHYH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHYH were set to Refsum disease, 266500 (3)",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:31.425466+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHGDH was added\ngene: PHGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PHGDH were set to Neu-Laxova syndrome1, 256520 (3)",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:30.911542+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF8 was added\ngene: PHF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF8 were set to Mental retardation syndrome, X-linked, Siderius type, 300263 (3)",
"entity_name": "PHF8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:30.521921+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHF6 was added\ngene: PHF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PHF6 were set to Borjeson-Forssman-Lehmann syndrome, 301900 (3)",
"entity_name": "PHF6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:30.216514+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM3 was added\ngene: PGM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM3 were set to Immunodeficiency 23, 615816 (3)",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:29.906459+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, 614921 (3)",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:29.317990+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGK1 was added\ngene: PGK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PGK1 were set to Phosphoglycerate kinase 1 deficiency, 300653 (3)",
"entity_name": "PGK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:29.004300+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP3 was added\ngene: PGAP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP3 were set to Hyperphosphatasia with mental retardation syndrome 4, 615716 (3)",
"entity_name": "PGAP3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:28.622157+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP2 was added\ngene: PGAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP2 were set to Hyperphosphatasia with mental retardation syndrome 3, 614207 (3)",
"entity_name": "PGAP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:28.111838+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PGAP1 was added\ngene: PGAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PGAP1 were set to Mental retardation, autosomal recessive 42, 615802 (3), Autosomal recessive",
"entity_name": "PGAP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:27.802260+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PFKM was added\ngene: PFKM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PFKM were set to Glycogen storage disease VII, 232800 (3)",
"entity_name": "PFKM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:27.433832+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX7 was added\ngene: PEX7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:26.919792+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX6 was added\ngene: PEX6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:26.606306+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX5 was added\ngene: PEX5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:26.300963+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX3 was added\ngene: PEX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:25.932264+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX26 was added\ngene: PEX26 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:25.405944+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX2 was added\ngene: PEX2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:25.022817+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX16 was added\ngene: PEX16 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:24.710790+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX13 was added\ngene: PEX13 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:24.206812+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX12 was added\ngene: PEX12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:23.815271+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX11B was added\ngene: PEX11B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:23.502340+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX10 was added\ngene: PEX10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:23.125299+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEX1 was added\ngene: PEX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:22.617638+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PET100 was added\ngene: PET100 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:22.310831+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PEPD was added\ngene: PEPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:21.999624+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDP1 was added\ngene: PDP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:21.426152+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHB was added\ngene: PDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:21.135522+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:20.803441+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE6C was added\ngene: PDE6C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:20.429713+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCYT1A was added\ngene: PCYT1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:19.923111+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCSK1 was added\ngene: PCSK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:19.612053+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:19.308774+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH15 was added\ngene: PCDH15 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:18.719049+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH12 was added\ngene: PCDH12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:18.414663+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCB was added\ngene: PCCB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:18.109143+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCA was added\ngene: PCCA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:17.803166+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PC was added\ngene: PC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:17.225388+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAPSS2 was added\ngene: PAPSS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:16.916888+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:16.607460+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAK3 was added\ngene: PAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:16.104909+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:15.798584+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P3H1 was added\ngene: P3H1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:15.431180+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTUD6B was added\ngene: OTUD6B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:15.119024+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTC was added\ngene: OTC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:14.628691+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSTM1 was added\ngene: OSTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:14.315821+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSGEP was added\ngene: OSGEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:14.002787+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC6 was added\ngene: ORC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:13.693759+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC1 was added\ngene: ORC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:13.132646+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORAI1 was added\ngene: ORAI1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:12.814645+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPHN1 was added\ngene: OPHN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:12.507497+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPA3 was added\ngene: OPA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:11.994012+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:11.628852+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:11.322858+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:10.999801+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCLN was added\ngene: OCLN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:10.420205+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCA2 was added\ngene: OCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:10.119709+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OBSL1 was added\ngene: OBSL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:09.814746+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NYX was added\ngene: NYX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, MIM #310500",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:09.309916+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP93 was added\ngene: NUP93 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:09.005763+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP62 was added\ngene: NUP62 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:08.711164+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUP107 was added\ngene: NUP107 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:08.322364+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NUBPL was added\ngene: NUBPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:07.819819+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTRK1 was added\ngene: NTRK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:07.502445+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NT5C2 was added\ngene: NT5C2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:07.156437+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSUN2 was added\ngene: NSUN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:06.802933+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSDHL was added\ngene: NSDHL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:06.290655+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR0B1 was added\ngene: NR0B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:05.924557+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPR2 was added\ngene: NPR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:05.615453+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHS2 was added\ngene: NPHS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:05.311681+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHS1 was added\ngene: NPHS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:04.798093+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:04.429042+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:04.134165+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:03.611713+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)",
"entity_name": "NPC2",
"entity_type": "gene"
}
]
}