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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=816",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=814",
"results": [
{
"created": "2022-06-01T16:49:03.306301+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:03.008812+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NNT was added\ngene: NNT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:02.522803+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:02.005627+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLGN4X was added\ngene: NLGN4X was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:01.690588+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX6-2 was added\ngene: NKX6-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:01.323801+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX3-2 was added\ngene: NKX3-2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:01.012616+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPAL4 was added\ngene: NIPAL4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:00.507816+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHS was added\ngene: NHS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:49:00.208499+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHLRC1 was added\ngene: NHLRC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:59.890673+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHEJ1 was added\ngene: NHEJ1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:59.522176+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NGLY1 was added\ngene: NGLY1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:59.017486+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NGF was added\ngene: NGF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:58.711527+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NFU1 was added\ngene: NFU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:58.411943+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEXMIF was added\ngene: NEXMIF was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, MIM #300912",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:58.112593+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEU1 was added\ngene: NEU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:57.606105+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK8 was added\ngene: NEK8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:57.300369+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:56.990547+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NECTIN1 was added\ngene: NECTIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:56.621346+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEB was added\ngene: NEB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:56.105789+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFV2 was added\ngene: NDUFV2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:55.792483+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFV1 was added\ngene: NDUFV1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:55.442650+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS8 was added\ngene: NDUFS8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:55.141681+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS7 was added\ngene: NDUFS7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:54.608945+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS6 was added\ngene: NDUFS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:54.306678+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS4 was added\ngene: NDUFS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:54.006111+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS2 was added\ngene: NDUFS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:53.702650+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFS1 was added\ngene: NDUFS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:53.198691+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF6 was added\ngene: NDUFAF6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:52.819209+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF5 was added\ngene: NDUFAF5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:52.519057+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFAF2 was added\ngene: NDUFAF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:52.012605+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA11 was added\ngene: NDUFA11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:51.714637+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA10 was added\ngene: NDUFA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:51.425372+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDUFA1 was added\ngene: NDUFA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:51.111419+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDRG1 was added\ngene: NDRG1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:50.602734+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDP was added\ngene: NDP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDP were set to Norrie disease, 310600 (3)",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:50.298070+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDE1 was added\ngene: NDE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDE1 were set to Lissencephaly 4 (with microcephaly), 614019 (3)",
"entity_name": "NDE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:49.993954+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF2 was added\ngene: NCF2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF2 were set to Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:49.693676+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF1 was added\ngene: NCF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF1 were set to Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:49.125110+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260 (3)",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:48.843778+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:48.605281+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAXE was added\ngene: NAXE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAXE were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3), Autosomal recessive",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:48.301349+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NARS2 was added\ngene: NARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NARS2 were set to Combined oxidative phosphorylation deficiency 24, 616239 (3)",
"entity_name": "NARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:47.802876+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NANS was added\ngene: NANS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NANS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NANS were set to Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3), Autosomal recessive",
"entity_name": "NANS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:47.492490+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NALCN was added\ngene: NALCN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NALCN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NALCN were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies, 615419 (3)",
"entity_name": "NALCN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:47.178043+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGS was added\ngene: NAGS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthase deficiency, 237310 (3)",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:46.810263+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGLU was added\ngene: NAGLU was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGLU were set to Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920 (3)",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:46.308915+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGA was added\ngene: NAGA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to Schindler disease, type I, 609241 (3)",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:45.999530+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAA10 was added\ngene: NAA10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NAA10 were set to N-terminal acetyltransferase deficiency, 300855 (3)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:45.700281+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO7A was added\ngene: MYO7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to Usher syndrome, type 1B, 276900 (3)",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:45.372165+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO5B was added\ngene: MYO5B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYO5B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO5B were set to Microvillus inclusion disease, 251850 (3)",
"entity_name": "MYO5B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:44.608764+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYMK was added\ngene: MYMK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome, 254940 (3), Autosomal recessive",
"entity_name": "MYMK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:44.313419+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYD88 was added\ngene: MYD88 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MYD88 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYD88 were set to Pyogenic bacterial infections, recurrent, due to MYD88 deficiency, 612260 (3)",
"entity_name": "MYD88",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:44.013322+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Mevalonic aciduria, 610377 (3)",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:43.715330+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, 251000 (3)",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:43.203094+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUSK was added\ngene: MUSK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:42.902852+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100 (3)",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:42.594235+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3)",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:42.295315+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:41.702267+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTO1 was added\ngene: MTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTO1 were set to Combined oxidative phosphorylation deficiency 10, 614702 (3)",
"entity_name": "MTO1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:41.403031+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTMR2 was added\ngene: MTMR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)",
"entity_name": "MTMR2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:41.092442+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:40.724804+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency, 236250 (3)",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:40.212602+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTHFD1 was added\ngene: MTHFD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3), Autosomal recessive",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:39.920005+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTFMT was added\ngene: MTFMT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, 614947 (3)",
"entity_name": "MTFMT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:39.616887+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSTO1 was added\ngene: MSTO1 was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: MSTO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MSTO1 were set to 30684668; 31463572\nPhenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia, MIM#617675",
"entity_name": "MSTO1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:39.310969+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRE11 was added\ngene: MRE11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder, 604391 (3)",
"entity_name": "MRE11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:38.808186+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAP was added\ngene: MRAP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, 607398 (3)",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:38.511391+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPZ was added\ngene: MPZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPZ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPZ were set to Dejerine-Sottas disease, 145900 (3)",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:38.218775+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:37.951448+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPLKIP was added\ngene: MPLKIP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPLKIP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPLKIP were set to Trichothiodystrophy 4, nonphotosensitive, 234050 (3)",
"entity_name": "MPLKIP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:37.411175+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:37.132604+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:36.809547+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPDZ were set to Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:36.513053+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:36.221080+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:35.718874+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP21 was added\ngene: MMP21 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMP21 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMP21 were set to Heterotaxy, visceral, 7, autosomal, 616749 (3), Autosomal recessive",
"entity_name": "MMP21",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:35.419290+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMP2 was added\ngene: MMP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, 259600 (3)",
"entity_name": "MMP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:35.131873+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:34.893203+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:34.398281+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:34.100512+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:33.800329+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:33.508923+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:33.010879+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:32.712132+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:32.413012+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:32.119987+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MICU1 was added\ngene: MICU1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MICU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MICU1 were set to Myopathy with extrapyramidal signs, 615673 (3)",
"entity_name": "MICU1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:31.616069+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGP was added\ngene: MGP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGP were set to Keutel syndrome, 245150 (3)",
"entity_name": "MGP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:31.326078+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGME1 was added\ngene: MGME1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGME1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGME1 were set to Mitochondrial DNA depletion syndrome 11, 615084 (3)",
"entity_name": "MGME1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:31.023971+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MGAT2 was added\ngene: MGAT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MGAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MGAT2 were set to Congenital disorder of glycosylation, type IIa, 212066 (3)",
"entity_name": "MGAT2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:30.714123+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:30.217843+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFSD2A was added\ngene: MFSD2A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFSD2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD2A were set to Microcephaly 15, primary, autosomal recessive, 616486 (3), Autosomal recessive",
"entity_name": "MFSD2A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:29.949563+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:29.628955+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: METTL23 was added\ngene: METTL23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:29.397068+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MESP2 was added\ngene: MESP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:29.112589+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MERTK was added\ngene: MERTK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MERTK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MERTK were set to Retinitis pigmentosa 38, 613862 (3)",
"entity_name": "MERTK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:28.608095+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF8 was added\ngene: MEGF8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MEGF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF8 were set to Carpenter syndrome 2, 614976 (3)",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:28.309854+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEGF10 was added\ngene: MEGF10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MEGF10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MEGF10 were set to Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3)",
"entity_name": "MEGF10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:28.010641+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED25 was added\ngene: MED25 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED25 were set to Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3)",
"entity_name": "MED25",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:48:27.711764+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MED23 was added\ngene: MED23 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED23 were set to Mental retardation, autosomal recessive 18, 614249 (3)",
"entity_name": "MED23",
"entity_type": "gene"
}
]
}