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[
{
"created": "2024-01-09T11:32:26.337443Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005 to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2023-03-27T11:55:36.813540Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.24",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: PRDM10 was added\ngene: PRDM10 was added to Inherited renal cancer. Sources: Literature\nMode of inheritance for gene: PRDM10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM10 were set to 36440963\nPhenotypes for gene: PRDM10 were set to Fibrofolliculoma, HP:0030436; lipomatosis, MONDO:0006574; renal cell carcinoma, MONDO:0005086\nReview for gene: PRDM10 was set to RED\nAdded comment: Comment on gene rating: This gene should be rated RED as it has only been identified with a variant in this gene from one family.\r\n\r\nPMID:36440963 reported a family presenting with skin and mucosal lesions, extensive lipomatosis and renal cell carcinomas. The proband was initially diagnosed with Birt-Hogg-Dubé syndrome (BHD, MIM #135150) based on the presence of fibrofolliculomas, but no pathogenic germline variant was detected in FLCN, the gene associated with BHD. A heterozygous missense variant (p.Cys677Tyr) was identified, which co-segregated with the phenotype in the family.\r\n\r\nFunctional studies show that Cys677Tyr loses affinity for a regulatory binding motif in the FLCN promoter, abrogating cellular FLCN mRNA and protein levels. Overexpressing inducible PRDM10Cys677Tyr in renal epithelial cells altered the transcription of multiple genes, showing overlap but also differences with the effects of knocking out FLCN.\r\n\r\nThis gene has not yet been associated with phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
"entity_name": "PRDM10",
"entity_type": "gene"
},
{
"created": "2023-02-22T14:51:42.669617Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far.\r\n\r\nA female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). \r\n\r\nThis is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far.\r\n\r\nThis gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. \nSources: Literature; to: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far.\r\n\r\nA female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). \r\n\r\nThis is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far.\r\n\r\nThis gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. \r\nSources: Literature",
"entity_name": "ELOC",
"entity_type": "gene"
},
{
"created": "2023-02-22T14:48:34.350522Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.23",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: ELOC was added\ngene: ELOC was added to Inherited renal cancer. Sources: Literature\nMode of inheritance for gene: ELOC was set to Unknown\nPublications for gene: ELOC were set to 35323939\nPhenotypes for gene: ELOC were set to von Hippel-Lindau disease, MONDO:0008667; renal cell carcinoma, MONDO:0005086; retinal hemangioblastoma, MONDO:0003343\nReview for gene: ELOC was set to RED\nAdded comment: Comment on gene classification: This gene should be rated red as there is only one case with germline variant found so far.\r\n\r\nA female patient was identified with a germline de novo missense variant in ELOC gene (c.236A>G/ p.Tyr79Cys) and satisfied the clinical diagnostic criteria for von Hippel-Lindau (VHL) disease. The patient had left retinal haemangioblastomas, renal cell carcinomas, cyst of the right kidney, spinal haemangioblastoma, a haemangioblastoma at the cervicomedullary junction and Henoch-Schonlein purpura (PMID:35323939). \r\n\r\nThis is the only germline variant detected in ELOC gene and was associated with VHL so far. However, ~20 somatic ELOC variants have been reported to be associated with renal cell carcinomas so far.\r\n\r\nThis gene has not yet been associated with relevant phenotypes in OMIM or Gene2Phenotype. \nSources: Literature",
"entity_name": "ELOC",
"entity_type": "gene"
},
{
"created": "2022-08-30T13:54:12.983174Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086 to Paragangliomas 4, OMIM:115310; Pheochromocytoma, OMIM:171300; Paraganglioma and gastric stromal sarcoma, OMIM:606864",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-08T15:11:01.211035Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from Renal cell carcinoma (disease), MONDO:000508 to Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-03-08T15:10:07.319327Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM127 were changed from to Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2021-03-08T15:04:40.077887Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHD was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-03-08T15:02:23.686263Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: SDHD were set to 27899189",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-03-08T15:02:19.014869Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from to Renal cell carcinoma (disease), MONDO:000508",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:56:12.376223Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHC were changed from to Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:52:55.201905Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from to Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:51:14.866235Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MITF were changed from to {Melanoma, cutaneous malignant, susceptibility to, 8}, OMIM:614456; Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:50:09.650693Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: MITF were set to 27899189",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:17:00.697139Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN2B were changed from to Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:00:08.249055Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Erythrocytosis, familial, 2 (MIM# 263400); Pheochromocytoma (MIM# 171300); Renal cell carcinoma, somatic (MIM# 144700)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-03-08T14:00:08.216449Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: VHL were changed from Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater to von Hippel-Lindau syndrome, OMIM:193300; von Hippel-Lindau disease, MONDO:0008667; Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:42:29.648589Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Gastrointestinal stromal tumor (MIM# 6067640; Paraganglioma and gastric stromal sarcoma (MIM# 606864); Pheochromocytoma (MIM# 171300)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:42:29.626888Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.10",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma. to Paragangliomas 4, OMIM:115310; Renal cell carcinoma (disease), MONDO:0005086",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:10:15.046137Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with ?Deafness, autosomal recessive 97 (MIM# 616705); {Osteofibrous dysplasia, susceptibility to} (MIM# 607278); Hepatocellular carcinoma, childhood type, somatic (MIM# 114550)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:10:15.015412Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.9",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MET were changed from hereditary papillary renal carcinoma with type 1 papillary tumors to Renal cell carcinoma, papillary, 1, familial and somatic, OMIM:605074; Papillary renal cell carcinoma, MONDO:0017884",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:06:28.244298Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, somatic (MIM# 114500); Pneumothorax, primary spontaneous (MIM# 173600); Renal carcinoma, chromophobe, somatic (MIM# 144700)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2021-03-08T13:06:28.216668Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FLCN were changed from Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas to Birt-Hogg-Dube syndrome, OMIM:135150; Renal carcinoma, MONDO:0005206",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2021-03-08T12:52:17.236292Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Fumarase deficiency (MIM# 606812)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2021-03-08T12:52:17.216885Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.7",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients) to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2021-03-08T12:42:09.414095Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BAP1 were changed from Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type to Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2021-03-08T12:38:35.496277Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: BAP1 were set to ",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:18:39.510802Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: PMS2.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:18:32.429559Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: MSH6.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:18:09.096919Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: MSH2.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2021-02-26T15:18:02.821634Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.4",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag curated_removed tag was added to gene: MLH1.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2020-03-04T11:28:11.066125Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.3",
"user_name": "Catherine Snow",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-15T15:11:24.435237Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "1.0",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-15T14:59:16.311101Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.50",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel types changed to GMS Rare Disease; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-10-15T14:54:14.804823Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.49",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: TMEM127 were set to PMID: 24334765",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:54:05.283837Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.48",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: SDHD were set to PMID: 27899189",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:53:52.828826Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.47",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: SDHC were set to PMID: 27899189",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:53:35.781360Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.46",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: MITF were set to PMID: 27899189",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:53:20.383445Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.45",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: VHL were set to PMID: 27899189",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:53:05.947187Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.44",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: SDHB were set to PMID: 27899189",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:52:46.239827Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.43",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: MET were set to PMID: 27899189",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-10-15T14:52:33.949328Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.42",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Publications for gene: FLCN were set to PMID: 27899189",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-10-14T12:52:28.722877Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: PTEN as Amber List (moderate evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-10-14T12:52:28.717798Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Added comment: Comment on list classification: PTEN has been changed from red to amber based on a comment by Shazia Mahamdallie (email communication, October 11th 2019) who notes that \"amber status might be more appropriate, i.e. evidence of association but not significant\".",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-10-14T12:52:28.679170Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.41",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: pten has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-09-12T12:56:27.877131Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PTEN as Red List (low evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-09-12T12:56:27.871606Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: PTEN has been demoted from green to red as it was decided that it does not contribute significantly to inherited renal cancer susceptibility.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-09-12T12:56:27.836236Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.39",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:57:09.550532Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:56:58.779667Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:56:51.738401Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:56:38.146760Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:55:46.105802Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:51:15.682886Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MITF",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:53.482582Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:44.255346Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: CDKN2B: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:41.692530Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: VHL",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:39.619235Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: SDHB",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:37.031028Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: PTEN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:34.607121Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: FLCN",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:32.513339Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: MET",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:29.378532Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: FH",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:50:27.119399Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "commented on gene: BAP1",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-07-31T12:49:07.567660Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.38",
"user_name": "Ivone Leong",
"item_type": "panel",
"text": "List of related panels changed from to R224",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-02-01T10:05:11.844182Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PMS2 as No list",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:05:11.841224Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:05:11.819918Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.37",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pms2 has been removed from the panel.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:48.525650Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MSH6 as No list",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:48.522863Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:48.495257Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.36",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: msh6 has been removed from the panel.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:35.915014Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MSH2 as No list",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:35.911835Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:35.882610Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.35",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: msh2 has been removed from the panel.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:13.939636Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MLH1 as No list",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:13.937191Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be removed from the panel as it is associated with TCC and not RCC. Therefore, this gene has been made grey.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-02-01T10:04:13.917813Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.34",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mlh1 has been removed from the panel.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:47:13.305500Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TMEM127 as Amber List (moderate evidence)",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:47:13.302409Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:47:13.282293Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.33",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tmem127 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:45.429691Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHD as Amber List (moderate evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:45.426567Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:45.399827Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.32",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:28.998422Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHC as Amber List (moderate evidence)",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:28.995454Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:28.971162Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.31",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:15.962095Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CDKN2B as Amber List (moderate evidence)",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:15.959058Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-02-01T09:46:15.934848Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.30",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cdkn2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:40:04.940368Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: BAP1 as Green List (high evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:40:04.933140Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.29",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:37:01.308878Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHD as Amber List (moderate evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:37:01.302657Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.28",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:36:45.597555Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHC as Amber List (moderate evidence)",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:36:45.592773Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.27",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:36:25.617100Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CDKN2B as Amber List (moderate evidence)",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-31T12:36:25.607798Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.26",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cdkn2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:26:18.779511Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.25",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMS2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:25:44.020985Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.24",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSH6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:25:03.010807Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.23",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MSH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:24:45.911826Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.22",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Mode of inheritance for gene: MLH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:16:07.620677Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.21",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: FH were set to PMID: 27899189",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-01-30T14:11:28.450457Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.19",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Publications for gene: CDKN2B were set to PMID:25873077",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:50.925430Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: TMEM127 as Green List (high evidence)",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:50.917157Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.18",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: tmem127 has been classified as Green List (High Evidence).",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:34.078019Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHD as Green List (high evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:34.070493Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.17",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:23.111601Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHC as Green List (high evidence)",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:23.103492Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.16",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Green List (High Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:15.514828Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MITF as Amber List (moderate evidence)",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:15.507341Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.15",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mitf has been classified as Amber List (Moderate Evidence).",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:06.906115Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: CDKN2B as Green List (high evidence)",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:14:06.896889Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.14",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: cdkn2b has been classified as Green List (High Evidence).",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:56.269905Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: VHL as Green List (high evidence)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:56.260609Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.13",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: vhl has been classified as Green List (High Evidence).",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:47.945431Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: SDHB as Green List (high evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:47.938123Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.12",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:38.194814Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:38.187027Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.11",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:28.913430Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: PMS2 as Amber List (moderate evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:28.907245Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.10",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:19.592463Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MSH6 as Amber List (moderate evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:13:19.585645Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.9",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:56.693240Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MSH2 as Amber List (moderate evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:56.686548Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.8",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:40.719357Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MLH1 as Amber List (moderate evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:40.709314Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.7",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:08.556390Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: MET as Green List (high evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:12:08.550506Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.6",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: met has been classified as Green List (High Evidence).",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:58.544679Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FLCN as Green List (high evidence)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:58.538525Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.5",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: flcn has been classified as Green List (High Evidence).",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:39.786576Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Classified gene: FH as Green List (high evidence)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:39.779137Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.4",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Gene: fh has been classified as Green List (High Evidence).",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.397108Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: PMS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.385691Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: MSH6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.374310Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: MSH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.363834Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: MLH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.353255Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.342376Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.331106Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.319902Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.307842Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.296207Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:11:15.283966Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.3",
"user_name": "Lara Hawkes",
"item_type": "entity",
"text": "reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.489148Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Inherited renal cancer. Sources: Expert List\nMode of inheritance for gene: PMS2 was set to ",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.452142Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Inherited renal cancer. Sources: Expert List\nMode of inheritance for gene: MSH6 was set to ",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.404205Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Inherited renal cancer. Sources: Expert List\nMode of inheritance for gene: MSH2 was set to ",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.359929Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Inherited renal cancer. Sources: Expert List\nMode of inheritance for gene: MLH1 was set to ",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.305347Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to BAP1.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.241362Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to VHL.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.173399Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to SDHB.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.103665Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to PTEN.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:59.036611Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to MET.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:58.975623Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to FLCN.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2019-01-30T10:10:58.907840Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.2",
"user_name": "Ivone Leong",
"item_type": "entity",
"text": "Source Expert List was added to FH.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2018-12-28T11:56:57.834416Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "reviewed gene: CDKN2B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2018-12-28T11:48:42.148422Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-12-28T11:44:23.781612Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: CDKN2B was added\ngene: CDKN2B was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: CDKN2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKN2B were set to PMID:25873077\ngene: CDKN2B was marked as current diagnostic",
"entity_name": "CDKN2B",
"entity_type": "gene"
},
{
"created": "2018-12-28T11:35:00.081907Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: TMEM127 was added\ngene: TMEM127 was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM127 were set to PMID: 24334765\nReview for gene: TMEM127 was set to GREEN\ngene: TMEM127 was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2018-12-28T11:27:26.349405Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: MITF was added\ngene: MITF was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: MITF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MITF were set to PMID: 27899189\ngene: MITF was marked as current diagnostic",
"entity_name": "MITF",
"entity_type": "gene"
},
{
"created": "2018-12-28T10:58:23.917534Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nReview for gene: PTEN was set to GREEN\ngene: PTEN was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2018-12-28T10:54:30.427518Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27899189; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2018-12-28T10:53:33.001253Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: SDHD was set to Other\nPublications for gene: SDHD were set to PMID: 27899189\nPenetrance for gene: SDHD were set to Complete\nReview for gene: SDHD was set to GREEN\ngene: SDHD was marked as current diagnostic\nAdded comment: SDHD linked pedigrees exhibit a clear parent-of-origin effect: inheritance of paraganglioma commonly occurs in an autosomal dominant way only when paternally transmitted. There are a few reports of SDHD-related disease with maternal transmission. The SDHD gene is not imprinted, SDHD-linked tumours arise upon paternal transmission of the mutation on selective loss of the entire maternal chromosome 11 (PMID: 15064708). \nSources: UKGTN",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2018-12-28T10:13:45.161695Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SDHC were set to PMID: 27899189",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2018-12-28T10:12:07.926726Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SDHB were set to PMID: 27899189\nPhenotypes for gene: SDHB were set to Cowden syndrome 2; Gastrointestinal stromal tumor; Paraganglioma and gastric stromal sarcoma; Paragangliomas 4; Pheochromocytoma.\nPenetrance for gene: SDHB were set to Complete\nReview for gene: SDHB was set to GREEN\ngene: SDHB was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2018-12-28T09:38:18.276408Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VHL were set to PMID: 27899189\nPhenotypes for gene: VHL were set to Renal hemangioblastoma; Renal cell carcinoma; Multiple renal cysts; Pheochromocytoma; Sporadic cerebellar hemangioblastoma; Hypernephroma; Pancreatic cancer; Paraganglioma; Adenocarcinoma of ampulla of Vater\nPenetrance for gene: VHL were set to Complete\nReview for gene: VHL was set to GREEN\ngene: VHL was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2018-12-28T09:33:31.504280Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: MET was added\ngene: MET was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MET were set to PMID: 27899189\nPhenotypes for gene: MET were set to hereditary papillary renal carcinoma with type 1 papillary tumors\nPenetrance for gene: MET were set to Incomplete\nReview for gene: MET was set to GREEN\ngene: MET was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "MET",
"entity_type": "gene"
},
{
"created": "2018-12-28T09:27:23.067220Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: FLCN was added\ngene: FLCN was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLCN were set to PMID: 27899189\nPhenotypes for gene: FLCN were set to Renal carcinoma; Parotid oncocytomas; Neural tissue tumors; Lipomas; Angiolipomas\nPenetrance for gene: FLCN were set to Complete\nReview for gene: FLCN was set to GREEN\ngene: FLCN was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "FLCN",
"entity_type": "gene"
},
{
"created": "2018-12-28T09:19:58.200405Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FH were set to PMID: 27899189\nPhenotypes for gene: FH were set to Uterine leiomyosarcoma (less common); Cutaneous leiomyosarcoma (less common); Renal cell carcinoma, solitary papillary type 2 (about 20% of patients)\nPenetrance for gene: FH were set to Incomplete\nReview for gene: FH was set to GREEN\nAdded comment: Mean age of diagnosis of renal cell carcinoma is 46 years. \r\nRecessive pathogenic variants in fumarase deficiency. \nSources: UKGTN",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2018-12-28T09:08:21.207934Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.1",
"user_name": "Rachel Robinson",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Inherited renal cancer. Sources: UKGTN\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAP1 were set to Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type\nPenetrance for gene: BAP1 were set to Incomplete\nReview for gene: BAP1 was set to GREEN\ngene: BAP1 was marked as current diagnostic\nAdded comment: Sources: UKGTN",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2018-11-16T10:14:15.784517Z",
"panel_name": "Inherited renal cancer",
"panel_id": 521,
"panel_version": "0.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Added Panel Inherited renal cancer\nSet panel types to: GMS Rare Disease",
"entity_name": null,
"entity_type": null
}
]