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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1311",
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"results": [
{
"created": "2021-06-04T12:34:45.404067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:34:26.863424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:33:34.235659+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINE1 as ready",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:33:34.225799+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpine1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:33:31.731156+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:33:07.010670+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINE1 were set to ",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:32:36.664397+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINE1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:29:08.327838+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9207454, 15650551; Phenotypes: Plasminogen activator inhibitor-1 deficiency, MIM# 613329; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:13:15.566032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXA2R as ready",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:13:15.554548+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxa2r has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:13:08.384427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:12:41.376244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBXA2R were set to ",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:12:21.252108+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:12:06.354846+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBXA2R as Amber List (moderate evidence)",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:12:06.340563+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxa2r has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:11:48.392135+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:05:31.803387+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBXA2R as ready",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:05:31.793919+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxa2r has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:05:29.240929+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBXA2R were changed from to {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:02:24.018309+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBXA2R were set to ",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:01:50.186008+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBXA2R was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:01:27.297198+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBXA2R as Amber List (moderate evidence)",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:01:27.287273+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbxa2r has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:00:58.561207+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBXA2R: Rating: AMBER; Mode of pathogenicity: None; Publications: 7929844, 19828703, 22517902; Phenotypes: {Bleeding disorder, platelet-type, 13, susceptibility to}, MIM# 614009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBXA2R",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:57:37.291945+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P2RY12 were changed from Bleeding disorder, platelet-type, 8 MIM# 609821 to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:57:24.556112+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RY12 were set to ",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:57:12.800619+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P2RY12 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:57:00.706690+10:00",
"panel_name": "Additional findings_Paediatric",
"panel_id": 3302,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:56:04.339478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P2RY12 as ready",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:56:04.328634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry12 has been classified as Green List (High Evidence).",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:55:57.768171+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7813",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:55:39.055218+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7812",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RY12 were set to ",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:55:19.591619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7811",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:54:59.358435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987, 29117459, 19237732; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:54:00.573887+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: P2RY12 as ready",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:54:00.563683+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: p2ry12 has been classified as Green List (High Evidence).",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:53:57.815058+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: P2RY12 were changed from to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:53:24.653259+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: P2RY12 were set to ",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:52:58.268153+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: P2RY12 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:52:12.382367+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.; to: Platelet-type bleeding disorder-8 is characterized by mild to moderate mucocutaneous bleeding and excessive bleeding after surgery or trauma. The defect is due to the inability of ADP to induce platelet aggregation.\r\n\r\nFamilies with bi-allelic and mono-allelic disease reported. Dominant negative mechanism proposed for mono-allelic disease.",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:51:39.246171+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: P2RY12: Changed publications: 11196645, 12578987, 29117459, 19237732; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:48:34.371803+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: P2RY12: Changed phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821, MONDO:0012354",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:48:02.002082+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: P2RY12: Rating: GREEN; Mode of pathogenicity: None; Publications: 11196645, 12578987; Phenotypes: Bleeding disorder, platelet-type, 8, MIM# 609821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:45:32.327270+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCFD2 as ready",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:45:32.317516+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcfd2 has been classified as Green List (High Evidence).",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:45:09.803204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:44:37.295428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCFD2 were set to ",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:44:16.948084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:44:00.191880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:42:45.213768+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCFD2 as ready",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:42:45.204359+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcfd2 has been classified as Green List (High Evidence).",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:37:03.435093+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCFD2 were changed from to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:36:34.393068+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCFD2 were set to ",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:36:01.475376+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.292",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCFD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:35:29.147262+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCFD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 12717434, 16304051, 18391077,; Phenotypes: Factor V and factor VIII, combined deficiency of, MIM# 613625, MONDO:0013331; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:30:37.508863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMAN1 as ready",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:30:37.499618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lman1 has been classified as Green List (High Evidence).",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:30:12.828807+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:29:54.053948+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMAN1 were set to ",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:29:34.151724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:29:15.939029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300, MONDO:0009206; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:28:14.890556+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.291",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN1 were changed from Combined factor V and VIII deficiency, MIM# 227300 to Combined factor V and VIII deficiency, MIM# 227300; MONDO:0009206",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:27:35.538893+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMAN1 as ready",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:27:35.528988+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lman1 has been classified as Green List (High Evidence).",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:27:31.887080+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMAN1 were changed from to Combined factor V and VIII deficiency, MIM# 227300",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:27:01.859106+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMAN1 were set to ",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:26:32.896627+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMAN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:26:06.851480+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMAN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9546392, 16304051; Phenotypes: Combined factor V and VIII deficiency, MIM# 227300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:24:06.731677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA2B as ready",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:24:06.722349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga2b has been classified as Green List (High Evidence).",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:23:58.785996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:23:40.168816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA2B were set to ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:23:20.397284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:23:03.297333+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.\r\n\r\nGlanzmann thrombasthenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.; to: Platelet-type bleeding disorder-16 (BDPLT16) is an autosomal dominant form of congenital macrothrombocytopaenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities. Multiple families reported.\r\n\r\nGlanzmann thrombasthaenia-1 (GT1) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Multiple families reported.",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:22:53.323573+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:21:50.697740+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGA2B as ready",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:21:50.684864+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itga2b has been classified as Green List (High Evidence).",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:21:47.220399+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITGA2B were changed from to Bleeding disorder, platelet-type, 16, MIM# 187800; MONDO:000855; Glanzmann thrombasthaenia 1, MIM# 273800",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:19:51.673267+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITGA2B were set to ",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:19:18.709656+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ITGA2B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:18:54.190434+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGA2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 1638023, 21454453, 8282784, 16463284; Phenotypes: Bleeding disorder, platelet-type, 16, MIM# 187800, MONDO:000855, Glanzmann thrombasthaenia 1, MIM# 273800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:08:41.563560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMOD1 as ready",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:08:41.553441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:08:30.131065+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD1 were changed from to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:08:09.522111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMOD1 were set to ",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:07:51.702455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMOD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:07:33.364959+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMOD1 as Amber List (moderate evidence)",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:07:33.354360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmod1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:07:15.843960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 28292896; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:05:43.785661+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMOD1 were changed from Megacystis microcolon intestinal hypoperistalsis syndrome to Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T11:05:27.771352+10:00",
"panel_name": "Gastrointestinal neuromuscular disease",
"panel_id": 3087,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMOD1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3, MIM# 619362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LMOD1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:06:32.013428+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POU4F1 as ready",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:06:31.998828+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou4f1 has been classified as Green List (High Evidence).",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:06:03.884018+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POU4F1 as Green List (high evidence)",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:06:03.874819+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou4f1 has been classified as Green List (High Evidence).",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:04:30.885909+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POU4F1 was added\ngene: POU4F1 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: POU4F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POU4F1 were set to 33783914; 8876243\nPhenotypes for gene: POU4F1 were set to Ataxia; intention tremor; hypotonia\nReview for gene: POU4F1 was set to GREEN\nAdded comment: 4 unrelated probands presenting with paediatric onset ataxia, intention tremor, and hypotonia, with de novo loss of function variants, and supporting null mouse model. \nSources: Literature",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:03:04.573111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7797",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: POU4F1 as ready",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:03:04.562818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7797",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou4f1 has been classified as Green List (High Evidence).",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:01:45.800843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7797",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: POU4F1 as Green List (high evidence)",
"entity_name": "POU4F1",
"entity_type": "gene"
},
{
"created": "2021-06-04T10:01:45.791063+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7797",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pou4f1 has been classified as Green List (High Evidence).",
"entity_name": "POU4F1",
"entity_type": "gene"
}
]
}