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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1313",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1311",
"results": [
{
"created": "2021-06-03T16:47:23.775693+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19549989, 19552682, 23815599; Phenotypes: Bleeding disorder, platelet-type, 11, MIM# 614201, MONDO:0013623; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:43:13.647523+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BB as ready",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:43:13.634700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1bb has been classified as Green List (High Evidence).",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:43:05.575552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:42:47.430808+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GP1BB were set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:42:28.095253+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:42:08.175083+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:41:14.743933+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GP1BB as ready",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:41:14.734475+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gp1bb has been classified as Green List (High Evidence).",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:41:11.542583+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GP1BB were changed from to Bernard-Soulier syndrome, type B, MIM# 231200; Macrothrombocytopaenia",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:40:43.199075+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GP1BB were set to ",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:40:06.877423+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GP1BB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T16:39:36.496004+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GP1BB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8703016, 9116284, 10887115, 33813986, 33657022, 33216977, 31997307, 1730088, 11222377; Phenotypes: Bernard-Soulier syndrome, type B, MIM# 231200, Macrothrombocytopaenia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:54:39.804869+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGG as ready",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:54:39.795156+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgg has been classified as Green List (High Evidence).",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:54:16.784786+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGG were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:53:40.642624+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGG were set to ",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:53:11.690354+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T13:52:40.558560+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 11001902, 11001903, 3337908; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2021-06-03T10:00:36.338030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CREB3L3 as ready",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T10:00:36.328088+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: creb3l3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T10:00:24.056554+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREB3L3 were changed from Hyperlipidaemia; hypertriglyceridemia to Hypertriglyceridaemia-2, MIM#619324",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T10:00:04.816740+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridaemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:59:38.652830+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CREB3L3 were changed from Hypertriglyceridaemia to Hypertriglyceridaemia-2, MIM#619324",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:59:25.068238+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CREB3L3 were set to ",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:58:54.171909+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CREB3L3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertriglyceridemia-2, MIM#619324; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CREB3L3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:56:40.265244+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC3 as ready",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:56:40.254036+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:56:31.447189+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:56:31.437273+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:56:17.847395+10:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:55:10.609590+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC3 as ready",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:55:10.599938+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:55:03.837863+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC3 as Amber List (moderate evidence)",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:55:03.828035+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:54:35.784304+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC3 was added\ngene: PSMC3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSMC3 were set to 32500975\nPhenotypes for gene: PSMC3 were set to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354\nReview for gene: PSMC3 was set to AMBER\nAdded comment: Three affected individuals from a single consanguineous family reported with homozygous intronic variant. Animal model. \nSources: Literature",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:53:02.730738+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:52:32.864566+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:52:18.765009+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:51:49.024659+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:50:43.182315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC3 were changed from Deafness; cataract to Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:50:23.433962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC3: Changed phenotypes: Deafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T09:50:14.081694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC3: Changed phenotypes: Feafness, cataract, impaired intellectual development, and polyneuropathy, MIM#619354",
"entity_name": "PSMC3",
"entity_type": "gene"
},
{
"created": "2021-06-03T08:52:04.880116+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1092",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33216760; Phenotypes: monogenic human epilepsy disorders; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:43:54.329316+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1B as ready",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:43:54.319544+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Green List (High Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:43:39.494884+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCNN1B were changed from to Liddle syndrome 1, MIM# 177200; Pseudohypoaldosteronism, type I, MIM# 264350; Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:43:18.461303+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCNN1B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:42:57.520104+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCNN1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Liddle syndrome 1, MIM# 177200, Pseudohypoaldosteronism, type I, MIM# 264350, Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:42:50.225835+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1B as Amber List (moderate evidence)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:42:50.215771+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T07:42:25.470753+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:59:46.146132+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGB as ready",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:59:46.134984+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgb has been classified as Green List (High Evidence).",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:58:58.107961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenaemia, congenital, MIM# 616004",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:58:36.595409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGB were set to ",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:58:09.191926+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:57:49.612730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.\r\n\r\nAfibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder. Well established gene-disease association.; to: Inherited disorders of fibrinogen affect either the quantity (afibrinogenaemia and hypofibrinogenaemia) or the quality (dysfibrinogenemia) of the circulating fibrinogen or both.\r\n\r\nAfibrinogenaemia is characterized by the complete absence of immunoreactive fibrinogen. Bleeding due to afibrinogenaemia usually manifests in the neonatal period, with 85% of cases presenting umbilical cord bleeding, but a later age of onst is not unusual. Bleeding may occur in the skin, gastrointestinal tract, genitourinary tract, or the central nervous system, with intracranial haemorrhage being reported as the major cause of death. Patients are susceptible to spontaneous rupture of the spleen. First-trimester pregnancy loss is common. Both arterial and venous thromboembolic complications have been reported. Hypofibrinogenaemia is a milder disorder.\r\n\r\nWell established gene-disease association.",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:57:37.677077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenaemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:56:30.187013+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGB as ready",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:56:30.177234+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgb has been classified as Green List (High Evidence).",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:56:27.528245+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGB were changed from to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:55:58.394940+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGB were set to ",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:55:27.644957+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:55:03.168221+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: 12393540, 16195396; Phenotypes: Afibrinogenaemia, congenital, MIM# 202400, Hypofibrinogenaemia, congenital, MIM# 202400, Dysfibrinogenemia, congenital, MIM# 616004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:48:30.967933+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F9 as ready",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:48:30.956863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f9 has been classified as Green List (High Evidence).",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:48:24.408715+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:48:06.624166+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F9 were set to ",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:47:45.400029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:46:55.922822+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:46:06.616652+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:45:30.085981+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F9 were changed from Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807 to Haemophilia B, MIM# 306900; MONDO:0010604; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; http://purl.obolibrary.org/obo/MONDO:0010432",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:43:58.324338+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F9 as ready",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:43:58.313636+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f9 has been classified as Green List (High Evidence).",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:43:55.665294+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F9 were changed from to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:43:26.888135+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F9 were set to ",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:42:57.470519+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:42:33.659201+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F9: Rating: GREEN; Mode of pathogenicity: None; Publications: 19846852, 34015304, 33656538; Phenotypes: Haemophilia B, MIM# 306900, Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F9",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:38:55.917016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F8 as ready",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:38:55.904093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f8 has been classified as Green List (High Evidence).",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:38:47.833227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700; MONDO:0010602",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:38:21.336033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F8 were set to ",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:37:59.430819+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:37:41.592446+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700, MONDO:0010602; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:37:12.762566+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F8 were changed from Haemophilia A, MIM# 306700 to Haemophilia A, MIM# 306700; MONDO:0010602",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:36:15.859120+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F8 as ready",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:36:15.848137+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f8 has been classified as Green List (High Evidence).",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:36:11.098873+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F8 were changed from to Haemophilia A, MIM# 306700",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:35:43.512614+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F8 were set to ",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:35:21.069492+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F8 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:34:57.087604+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F8: Rating: GREEN; Mode of pathogenicity: None; Publications: 2986011, 3097553; Phenotypes: Haemophilia A, MIM# 306700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "F8",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:32:36.203566+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F7 as ready",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:32:36.194114+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f7 has been classified as Green List (High Evidence).",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:32:24.296160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7761",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F7 were changed from to Factor VII deficiency, MIM# 227500; MONDO:0009211",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:32:01.824105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7760",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F7 were set to ",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:31:36.647498+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7759",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:31:11.980023+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7758",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F7: Rating: GREEN; Mode of pathogenicity: None; Publications: 12181036; Phenotypes: Factor VII deficiency, MIM# 227500, MONDO:0009211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:30:22.697791+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F7 as ready",
"entity_name": "F7",
"entity_type": "gene"
},
{
"created": "2021-06-03T06:30:22.687691+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f7 has been classified as Green List (High Evidence).",
"entity_name": "F7",
"entity_type": "gene"
}
]
}