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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=817",
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{
"created": "2022-06-01T16:48:27.213869+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED17 was added\ngene: MED17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:26.926391+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Lujan-Fryns syndrome, 309520 (3)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:26.689078+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:26.395802+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:25.891211+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:25.598782+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCM4 was added\ngene: MCM4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCM4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCM4 were set to Natural killer cell and glucocorticoid deficiency with DNA repair defect, 609981 (3)",
"entity_name": "MCM4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:25.305965+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MCFD2 was added\ngene: MCFD2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, 613625 (3)",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:25.006938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MC2R was added\ngene: MC2R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MC2R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MC2R were set to Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3)",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:24.713493+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBTPS2 was added\ngene: MBTPS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome, 308205 (3)",
"entity_name": "MBTPS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:24.212941+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MBOAT7 was added\ngene: MBOAT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MBOAT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MBOAT7 were set to Mental retardation, autosomal recessive 57, 617188 (3)",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:23.932709+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:23.698415+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MARS2 was added\ngene: MARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive, 611390 (3)",
"entity_name": "MARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:23.406143+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MARS was added\ngene: MARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MARS were set to Interstitial lung and liver disease, 615486 (3)",
"entity_name": "MARS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:22.907986+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAPKBP1 was added\ngene: MAPKBP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, 617271 (3), Autosomal recessive",
"entity_name": "MAPKBP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:22.608901+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAOA was added\ngene: MAOA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MAOA were set to Brunner syndrome, 300615 (3)",
"entity_name": "MAOA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:22.319636+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:22.022759+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:21.526938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAN1B1 was added\ngene: MAN1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAN1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN1B1 were set to Mental retardation, autosomal recessive 15, 614202 (3)",
"entity_name": "MAN1B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:21.299967+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MALT1 was added\ngene: MALT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MALT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MALT1 were set to Immunodeficiency 12, 615468 (3)",
"entity_name": "MALT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:21.009417+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:20.707280+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:20.208896+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LYRM7 was added\ngene: LYRM7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LYRM7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYRM7 were set to Mitochondrial complex III deficiency, nuclear type 8, 615838 (3), Autosomal recessive",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:19.918021+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC, 613177 (3)",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:19.628568+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LTBP3 was added\ngene: LTBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LTBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP3 were set to Tooth agenesis, selective, 6, 613097 (3)",
"entity_name": "LTBP3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:19.405089+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRSAM1 was added\ngene: LRSAM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRSAM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRSAM1 were set to Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)",
"entity_name": "LRSAM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:19.111711+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRRC6 was added\ngene: LRRC6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRRC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRRC6 were set to Ciliary dyskinesia, primary, 19, 614935 (3)",
"entity_name": "LRRC6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:18.616788+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:18.394029+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP5 were set to Osteoporosis-pseudoglioma syndrome, 259770 (3)",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:18.107771+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP4 was added\ngene: LRP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP4 were set to Cenani-Lenz syndactyly syndrome, 212780 (3)",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:17.816969+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:17.334575+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRMDA was added\ngene: LRMDA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRMDA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRMDA were set to Albinism, oculocutaneous, type VII, 615179 (3)",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:17.095916+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRIG2 was added\ngene: LRIG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRIG2 were set to Urofacial syndrome 2, 615112 (3)",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:16.807581+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRBA was added\ngene: LRBA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRBA were set to Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)",
"entity_name": "LRBA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:16.512104+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:16.220862+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPL was added\ngene: LPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:15.725133+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPIN2 was added\ngene: LPIN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN2 were set to Majeed syndrome, 609628 (3)",
"entity_name": "LPIN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:15.498139+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPIN1 was added\ngene: LPIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPIN1 were set to Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3)",
"entity_name": "LPIN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:15.213404+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LONP1 were set to CODAS syndrome, 600373 (3)",
"entity_name": "LONP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:14.916818+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMOD3 were set to Nemaline myopathy 10, 616165 (3)",
"entity_name": "LMOD3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:14.426268+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:14.197176+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:13.941884+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBR1 was added\ngene: LMBR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBR1 were set to Acheiropody, 200500 (3)",
"entity_name": "LMBR1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:13.617099+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMAN1 was added\ngene: LMAN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMAN1 were set to Combined factor V and VIII deficiency, 227300 (3)",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:13.390514+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPT1 was added\ngene: LIPT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPT1 were set to Lipoyltransferase 1 deficiency, 616299 (3)",
"entity_name": "LIPT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:12.895786+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPC were set to Hepatic lipase deficiency, 614025 (3)",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:12.603450+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:12.313035+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINS1 was added\ngene: LINS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LINS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LINS1 were set to Mental retardation, autosomal recessive 27, 614340 (3)",
"entity_name": "LINS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:12.024390+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:11.724262+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:11.297193+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIAS was added\ngene: LIAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIAS were set to Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462 (3)",
"entity_name": "LIAS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:11.005915+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:10.693111+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LGI4 was added\ngene: LGI4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LGI4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LGI4 were set to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3), Autosomal recessive",
"entity_name": "LGI4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:10.395468+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEP was added\ngene: LEP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LEP were set to Obesity, morbid, due to leptin deficiency, 614962 (3)",
"entity_name": "LEP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:09.906187+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLRAP1 was added\ngene: LDLRAP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:09.610826+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:09.319471+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDHB was added\ngene: LDHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LDHB were set to 6383647\nPhenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, MIM# 614128",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:09.093529+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDHA was added\ngene: LDHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDHA were set to Glycogen storage disease XI, 612933 (3)",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:08.806525+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCAT were set to Norum disease, 245900 (3)",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:08.307520+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCA5 was added\ngene: LCA5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:08.013865+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LBR were set to Greenberg skeletal dysplasia, 215140 (3)",
"entity_name": "LBR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:07.727305+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAT was added\ngene: LAT was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: LAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LAT were set to 27522155; 27242165\nPhenotypes for gene: LAT were set to Immunodeficiency 52, MIM#\t617514",
"entity_name": "LAT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:07.505164+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS2 were set to Perrault syndrome 4, 615300 (3)",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:07.216481+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:06.739868+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARP7 was added\ngene: LARP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARP7 were set to Alazami syndrome, 615071 (3)",
"entity_name": "LARP7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:06.502094+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:06.213663+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC3 was added\ngene: LAMC3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC3 were set to Cortical malformations, occipital, 614115 (3)",
"entity_name": "LAMC3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:05.944826+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:05.696288+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:05.205319+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:04.914064+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:04.624166+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:04.407218+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:04.132550+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA1 were set to Poretti-Boltshauser syndrome, 615960 (3)",
"entity_name": "LAMA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:03.688298+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:03.402466+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:03.111687+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KY was added\ngene: KY was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KY were set to Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive",
"entity_name": "KY",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:02.826887+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT85 was added\ngene: KRT85 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT85 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT85 were set to Ectodermal dysplasia 4, hair/nail type, 602032 (3)",
"entity_name": "KRT85",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:02.524868+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT5 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)",
"entity_name": "KRT5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:02.017157+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:01.710864+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT10 was added\ngene: KRT10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:01.418413+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KPTN was added\ngene: KPTN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KPTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KPTN were set to Mental retardation, autosomal recessive 41, 615637 (3)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:01.115432+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KNL1 was added\ngene: KNL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive, 604321 (3)",
"entity_name": "KNL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:00.818371+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL7 was added\ngene: KLHL7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KLHL7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL7 were set to PERCHING syndrome, 617055 (3)",
"entity_name": "KLHL7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:00.309275+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KLHL41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL41 were set to Nemaline myopathy 9, 615731 (3)",
"entity_name": "KLHL41",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:59.996339+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KLHL40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KLHL40 were set to Nemaline myopathy 8, autosomal recessive, 615348 (3)",
"entity_name": "KLHL40",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:59.711641+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:59.427938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1C were set to Spastic ataxia 2, autosomal recessive, 611302 (3)",
"entity_name": "KIF1C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:59.208311+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome, 609460 (3)",
"entity_name": "KIF1BP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:58.716019+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:58.429684+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF14 were set to Microcephaly 20, primary, autosomal recessive, 617914 (3)",
"entity_name": "KIF14",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:58.210479+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1109 was added\ngene: KIAA1109 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822 (3), Autosomal recessive",
"entity_name": "KIAA1109",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:57.943039+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIAA0586 were set to Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3), Autosomal recessive",
"entity_name": "KIAA0586",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:57.704190+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:57.214728+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCTD7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCTD7 were set to Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (3)",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:56.992467+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNV2 was added\ngene: KCNV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNV2 were set to Retinal cone dystrophy 3B, 610356 (3)",
"entity_name": "KCNV2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:56.710153+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:56.424969+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:56.202543+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ10 were set to SESAME syndrome, 612780 (3)",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:55.720979+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:55.440221+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)",
"entity_name": "KATNB1",
"entity_type": "gene"
}
]
}