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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1842",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1840",
"results": [
{
"created": "2020-04-19T20:57:13.663083+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LPIN1 was added\ngene: LPIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:13.150920+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LONP1 was added\ngene: LONP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:12.651652+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMOD3 was added\ngene: LMOD3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:11.847575+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:11.327299+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:10.745830+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMBR1 was added\ngene: LMBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:10.149389+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LMAN1 was added\ngene: LMAN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:09.648092+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPT1 was added\ngene: LIPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:08.837046+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:08.221764+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:07.644906+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LINS1 was added\ngene: LINS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:07.046965+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:06.160177+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:05.623579+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LIAS was added\ngene: LIAS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:05.048255+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:04.446548+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LGI4 was added\ngene: LGI4 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:03.946452+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LEP was added\ngene: LEP was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:03.152465+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLRAP1 was added\ngene: LDLRAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:02.654978+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:02.126339+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDHB was added\ngene: LDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDHB were set to Lactate dehydrogenase-B deficiency, 614128 (3)",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:57:01.552605+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LDHA was added\ngene: LDHA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:01.048897+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:57:00.233466+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCA5 was added\ngene: LCA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:59.659428+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LBR was added\ngene: LBR was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:59.151802+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS2 was added\ngene: LARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:58.650780+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:57.842681+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARP7 was added\ngene: LARP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:57.327891+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:56.746129+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC3 was added\ngene: LAMC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:56.250092+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:55.729233+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:54.750989+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:54.258913+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:53.753288+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:53.250860+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:52.764004+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LAMA1 was added\ngene: LAMA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:51.951095+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:51.345778+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:50.846795+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KY was added\ngene: KY was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:50.273070+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT85 was added\ngene: KRT85 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:49.743639+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT8 was added\ngene: KRT8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT8 were set to Cirrhosis, cryptogenic, 215600 (3)",
"entity_name": "KRT8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:48.850134+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT5 was added\ngene: KRT5 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:47.952163+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:47.429502+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KRT10 was added\ngene: KRT10 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:46.843471+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KPTN was added\ngene: KPTN was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:46.244834+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KNL1 was added\ngene: KNL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:45.352198+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL7 was added\ngene: KLHL7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:44.848287+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL41 was added\ngene: KLHL41 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:44.350992+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL40 was added\ngene: KLHL40 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:43.948799+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1BP was added\ngene: KIF1BP was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:43.452965+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:42.652290+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1C was added\ngene: KIF1C was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:42.148538+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:41.632889+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIF14 was added\ngene: KIF14 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:41.043090+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA1109 was added\ngene: KIAA1109 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:40.226297+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KIAA0586 was added\ngene: KIAA0586 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:39.719903+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:39.247598+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCTD7 was added\ngene: KCTD7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:38.747382+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNV2 was added\ngene: KCNV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:38.247960+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:37.748342+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:36.947322+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:36.349188+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:35.846771+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNE1 was added\ngene: KCNE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNE1 were set to Jervell and Lange-Nielsen syndrome 2, 612347 (3)",
"entity_name": "KCNE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:35.261303+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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"
},
{
"created": "2020-04-19T20:56:34.746764+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Naxos disease, 601214 (3)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:33.961352+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAM3 was added\ngene: JAM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:33.464657+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:32.948635+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:32.532905+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:32.046526+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:31.231788+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITK was added\ngene: ITK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:30.677364+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:30.150697+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB2 was added\ngene: ITGB2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:29.651261+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:29.152219+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:28.247179+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISCA2 was added\ngene: ISCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:27.738154+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC2 was added\ngene: IQSEC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:27.148622+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:26.647733+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:26.144619+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism, 246200 (3)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:25.348527+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPPL1 was added\ngene: INPPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:24.852860+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5K was added\ngene: INPP5K was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:24.344651+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:23.842744+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IMPG2 was added\ngene: IMPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IMPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56, 613581 (3)",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:23.345321+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL7R was added\ngene: IL7R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:22.552534+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RG was added\ngene: IL2RG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:22.044746+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RN was added\ngene: IL1RN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:21.548355+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:21.051794+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL17RA was added\ngene: IL17RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:20.541657+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL12RB1 was added\ngene: IL12RB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:19.551403+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL11RA was added\ngene: IL11RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:18.749816+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RA was added\ngene: IL10RA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:18.256489+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:17.750374+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKB was added\ngene: IKBKB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:17.146011+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:16.665434+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHM was added\ngene: IGHM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:15.945543+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFBP7 was added\ngene: IGFBP7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:15.431584+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:56:14.849500+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)",
"entity_name": "IFT80",
"entity_type": "gene"
}
]
}