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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1836",
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"results": [
{
"created": "2020-04-19T21:05:45.948274+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: WDR45B was added\ngene: WDR45B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR45B were set to Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3), Autosomal recessive",
"entity_name": "WDR45B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:45.032246+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: WDR35 was added\ngene: WDR35 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR35 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR35 were set to Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3)",
"entity_name": "WDR35",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:43.947120+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: WDR34 was added\ngene: WDR34 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:42.662163+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: WDR19 was added\ngene: WDR19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR19 were set to Senior-Loken syndrome 8, 616307 (3)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:41.751884+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: WAS was added\ngene: WAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:40.557740+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: WARS2 was added\ngene: WARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3), Autosomal recessive",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:39.545620+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: VWF was added\ngene: VWF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VWF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VWF were set to von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:38.245808+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: VSX2 was added\ngene: VSX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:37.345681+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: VRK1 was added\ngene: VRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:36.442604+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: VPS53 was added\ngene: VPS53 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:35.152007+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: VPS45 was added\ngene: VPS45 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:34.248846+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: VPS37A was added\ngene: VPS37A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS37A were set to Spastic paraplegia 53, autosomal recessive, 614898 (3)",
"entity_name": "VPS37A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:33.044197+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: VPS33B was added\ngene: VPS33B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:32.148002+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: VPS13B was added\ngene: VPS13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:30.949659+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: VPS13A was added\ngene: VPS13A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to Choreoacanthocytosis, 200150 (3)",
"entity_name": "VPS13A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:30.049341+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: VPS11 was added\ngene: VPS11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:29.142736+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: VMA21 was added\ngene: VMA21 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VMA21 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: VMA21 were set to Myopathy, X-linked, with excessive autophagy, 310440 (3), X-linked recessive",
"entity_name": "VMA21",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:27.849443+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: VLDLR was added\ngene: VLDLR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:26.861598+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: VKORC1 was added\ngene: VKORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, 607473 (3)",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:25.636393+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: VIPAS39 was added\ngene: VIPAS39 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3)",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:24.650339+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: VARS2 was added\ngene: VARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, 615917 (3)",
"entity_name": "VARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:23.547087+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: VARS was added\ngene: VARS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VARS were set to Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3), Autosomal recessive",
"entity_name": "VARS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:22.625128+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: USP9X was added\ngene: USP9X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:21.647209+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: USH2A was added\ngene: USH2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:20.350661+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: USH1G was added\ngene: USH1G was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:19.459983+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: USH1C was added\ngene: USH1C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:18.262647+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: USB1 was added\ngene: USB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USB1 were set to Poikiloderma with neutropenia, 604173 (3)",
"entity_name": "USB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:17.346451+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: UROS was added\ngene: UROS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UROS were set to Porphyria, congenital erythropoietic, 263700 (3)",
"entity_name": "UROS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:16.351541+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: UQCRQ was added\ngene: UQCRQ was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UQCRQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRQ were set to Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)",
"entity_name": "UQCRQ",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:15.145940+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: UQCRC2 was added\ngene: UQCRC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UQCRC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UQCRC2 were set to Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)",
"entity_name": "UQCRC2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:14.243925+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: UPF3B was added\ngene: UPF3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:12.947402+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: UPB1 was added\ngene: UPB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, 613161 (3)",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:12.049769+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: UNC80 was added\ngene: UNC80 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UNC80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC80 were set to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, 616801 (3), Autosomal recessive",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:10.762276+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: UNC13D was added\ngene: UNC13D was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:09.750954+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: UMPS was added\ngene: UMPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UMPS were set to Orotic aciduria, 258900 (3)",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:08.746633+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: UGT1A1 was added\ngene: UGT1A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:07.550834+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: UFM1 was added\ngene: UFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899 (3), Autosomal recessive",
"entity_name": "UFM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:06.552613+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: UBR1 was added\ngene: UBR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:05.246990+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: UBE3B was added\ngene: UBE3B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, 244450 (3)",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:04.414105+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: LARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 4 MIM#615300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:04.243050+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: UBE2T was added\ngene: UBE2T was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:03.344875+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: UBE2A was added\ngene: UBE2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBE2A were set to Mental retardation, X-linked syndromic, Nascimento-type, 300860 (3)",
"entity_name": "UBE2A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:02.046826+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: UBA5 was added\ngene: UBA5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:05:01.141529+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: UBA1 was added\ngene: UBA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile, 301830 (3)",
"entity_name": "UBA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:59.843257+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: TYRP1 was added\ngene: TYRP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:58.947954+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: TYR was added\ngene: TYR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:57.545000+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: TYMP was added\ngene: TYMP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:56.656644+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: TYK2 was added\ngene: TYK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYK2 were set to Immunodeficiency 35, 611521 (3)",
"entity_name": "TYK2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:55.750035+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: TXNL4A was added\ngene: TXNL4A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TXNL4A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TXNL4A were set to Burn-McKeown syndrome, 608572 (3)",
"entity_name": "TXNL4A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:54.548550+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: TWNK was added\ngene: TWNK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:53.644002+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: TUSC3 was added\ngene: TUSC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUSC3 were set to Mental retardation, autosomal recessive 7, 611093 (3)",
"entity_name": "TUSC3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:52.260487+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: TULP1 was added\ngene: TULP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:51.342768+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: TUFM was added\ngene: TUFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678 (3)",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:50.439417+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: TUBGCP6 was added\ngene: TUBGCP6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUBGCP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBGCP6 were set to Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)",
"entity_name": "TUBGCP6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:49.150230+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: TUBGCP4 was added\ngene: TUBGCP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUBGCP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBGCP4 were set to Microcephaly and chorioretinopathy, autosomal recessive, 3, 616335 (3)",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:48.150391+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: TUBA8 was added\ngene: TUBA8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TUBA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TUBA8 were set to Polymicrogyria with optic nerve hypoplasia, 613180 (3)",
"entity_name": "TUBA8",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:46.948180+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: TTPA was added\ngene: TTPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:45.948097+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: TTN was added\ngene: TTN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTN were set to Myopathy, early-onset, with fatal cardiomyopathy, 611705 (3)",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:45.046336+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: TTI2 was added\ngene: TTI2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTI2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTI2 were set to Mental retardation, autosomal recessive 39, 615541 (3)",
"entity_name": "TTI2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:43.649666+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: TTC8 was added\ngene: TTC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:42.736890+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: TTC7A was added\ngene: TTC7A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:41.533065+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: TTC37 was added\ngene: TTC37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:40.621397+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: TTC21B was added\ngene: TTC21B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC21B were set to Short-rib thoracic dysplasia 4 with or without polydactyly, 613819 (3)",
"entity_name": "TTC21B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:39.646690+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: TTC19 was added\ngene: TTC19 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC19 were set to Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:38.444901+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: TSPYL1 was added\ngene: TSPYL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSPYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSPYL1 were set to Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)",
"entity_name": "TSPYL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:37.548679+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: TSPAN7 was added\ngene: TSPAN7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TSPAN7 were set to Mental retardation, X-linked 58, 300210 (3)",
"entity_name": "TSPAN7",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:36.331239+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: TSHB was added\ngene: TSHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:35.349442+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: TSFM was added\ngene: TSFM was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:34.340686+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: TSEN54 was added\ngene: TSEN54 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:33.146978+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: TSEN2 was added\ngene: TSEN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:32.242951+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: TRPM6 was added\ngene: TRPM6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:31.025720+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: TRNT1 was added\ngene: TRNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3)",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:29.939480+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: TRMU was added\ngene: TRMU was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:28.746897+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: TRMT10A was added\ngene: TRMT10A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism, 616033 (3)",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:27.748291+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: TRIT1 was added\ngene: TRIT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIT1 were set to Combined oxidative phosphorylation deficiency 35, 617873 (3), Autosomal recessive",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:26.847179+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: TRIP11 was added\ngene: TRIP11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIP11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP11 were set to Achondrogenesis, type IA, 200600 (3)",
"entity_name": "TRIP11",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:25.547314+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: TRIM37 was added\ngene: TRIM37 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:24.651121+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: TRIM32 was added\ngene: TRIM32 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:23.427650+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: TREX1 was added\ngene: TREX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:22.550991+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: TRDN was added\ngene: TRDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:21.647443+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: TRAPPC9 was added\ngene: TRAPPC9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRAPPC9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC9 were set to Mental retardation, autosomal recessive 13, 613192 (3)",
"entity_name": "TRAPPC9",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:20.429553+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: TRAPPC11 was added\ngene: TRAPPC11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, type 2S, 615356 (3)",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:19.445374+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: TRAC was added\ngene: TRAC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRAC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAC were set to Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)",
"entity_name": "TRAC",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:18.160256+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: TPP1 was added\ngene: TPP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:17.341205+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: TPM3 was added\ngene: TPM3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPM3 were set to Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3)",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:16.441102+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: TPK1 was added\ngene: TPK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:15.147166+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: TPI1 was added\ngene: TPI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPI1 were set to Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3)",
"entity_name": "TPI1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:14.248702+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: TOE1 was added\ngene: TOE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:12.954189+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: TNNT1 was added\ngene: TNNT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNNT1 were set to Nemaline myopathy 5, Amish type, 605355 (3)",
"entity_name": "TNNT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:12.144443+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: TNFSF11 was added\ngene: TNFSF11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, 259710 (3)",
"entity_name": "TNFSF11",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:11.231133+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: TNFRSF13B was added\ngene: TNFRSF13B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF13B were set to Immunodeficiency, common variable, 2, 240500 (3)",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:10.050687+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: TNFRSF11B was added\ngene: TNFRSF11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11B were set to Paget disease of bone 5, juvenile-onset, 239000 (3)",
"entity_name": "TNFRSF11B",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:08.935111+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: TNFRSF11A was added\ngene: TNFRSF11A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, 612301 (3)",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:07.639348+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: TMTC3 was added\ngene: TMTC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:06.747026+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: TMEM70 was added\ngene: TMEM70 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:05.825941+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: TMEM67 was added\ngene: TMEM67 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:04.546542+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: TMEM237 was added\ngene: TMEM237 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:03.661576+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: TMEM231 was added\ngene: TMEM231 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:02.458850+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: TMEM216 was added\ngene: TMEM216 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-04-19T21:04:01.537178+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: TMEM165 was added\ngene: TMEM165 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM165 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM165 were set to Congenital disorder of glycosylation, type IIk, 614727 (3)",
"entity_name": "TMEM165",
"entity_type": "gene"
}
]
}