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[
{
"created": "2024-03-12T14:45:36.749327Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.81",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TP53 were changed from Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089 to Li-Fraumeni syndrome, OMIM:151623; Solitary Fibrous Tumour; Sarcoma, MONDO:0005089",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-03-12T14:45:26.521480Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.80",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TP53 were set to 27050224; 28338660",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:38.605423Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.79",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: TERT were set to PMID: 31529158",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:30.619820Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: TERT as Red List (low evidence)",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:30.612431Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Although there is evidence to support that TERT promoter variants affect prognosis, they are not the driving alteration in SFT. Furthermore, this cancer panel is intended for germline susceptibility findings rather than somatic variants as described in the case of TERT. \r\n\r\nTherefore, assigning a Red rating to the TERT gene on this panel.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:30.579986Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.78",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: tert has been classified as Red List (Low Evidence).",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:23.184754Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag promoter tag was added to gene: TERT.\nTag somatic tag was added to gene: TERT.",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-03-12T13:29:09.846661Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: ; Mode of pathogenicity: None; Publications: 24726063, 27562490, 29985536, 31529158, 31321477, 38392213, 38357190; Phenotypes: Solitary Fibrous Tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2024-01-22T15:14:54.871927Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.77",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: T were set to 23064415; 19801981; 34837714",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2024-01-22T15:14:54.566792Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.76",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: T were set to 23064415; 19801981",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2024-01-15T17:42:58.476397Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.75",
"user_name": "Adrienne Flanagan",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31529158; Phenotypes: Solitary Fibrous Tumour; Mode of inheritance: None",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-01-15T17:32:33.404312Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.75",
"user_name": "Adrienne Flanagan",
"item_type": "entity",
"text": "gene: TERT was added\ngene: TERT was added to Sarcoma susceptibility. Sources: Literature,Other\nMode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TERT were set to PMID: 31529158\nPhenotypes for gene: TERT were set to Solitary Fibrous Tumour\nReview for gene: TERT was set to GREEN\nAdded comment: Solitary fibrous tumour (SFT) is a rare mesenchymal tumour with a wide anatomical distribution, including superficial and deep soft tissue, visceral organs and bone and is most common in adults. The tumours classified in the intermediate risk group by WHO grading system are difficult to prognosticate. Recent studies show that C228T TERT promoter (pTERT) mutation is associated with reduced survival in SFT. pTERT mutation is more common in intermediate and high-risk groups, and is associated with poorer outcome. Detection of the pTERT mutation has the potential to improve current prognostication and guide management of patients with intermediate-risk solitary fibrous tumours. \r\nThese findings were validated by a study presented at the 2023 joint winter meeting of Pathological Society with the RSM, abstract OF6: \r\n\r\nhttps://www.pathsoc.org/_userfiles/pages/files/abstracts_booklet_winter_meeting_2023.pdf \nSources: Literature, Other",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:27:26.162590Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_rating was removed from gene: FANCC.\nTag Q3_22_expert_review was removed from gene: FANCC.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2023-01-30T11:26:59.586115Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.73",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: FANCC: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Amber. Expert review indicated that there is not sufficient evidence for this gene-disease association at this time.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:20:43.975405Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "commented on gene: FANCC",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-10-05T16:42:04.180818Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.72",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "Tag Q3_22_rating tag was added to gene: FANCC.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T11:16:43.106764Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag Q3_22_expert_review tag was added to gene: FANCC.",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T11:16:27.356027Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.72",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: FANCC were set to PMID: 35512711",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T11:15:55.804436Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Classified gene: FANCC as Amber List (moderate evidence)",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T11:15:55.799615Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Rating Amber but will flag this gene for GMS review to determine whether there is enough evidence supporting contribution of germline variants in FANCC to sarcoma pathogenesis.\r\n\r\nGillani et al., (2022) reported statistically significant enrichment for predicted pathogenic germline variants in the FANCC gene in a cohort of European Ewing sarcoma patients. However, variants have reduced penetrance and the overall frequency of these variants was low (1.5% in discovery cohort, 0.8% in validation cohort). \r\nChan etl al., (2017) also identified another likely pathogenic frameshift deletion in FANCC in an individual with epitheloid sarcoma",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T11:15:55.768727Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.71",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Gene: fancc has been classified as Amber List (Moderate Evidence).",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-06-22T10:52:39.626105Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.70",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FANCC were changed from Ewing Sarcome to Ewing sarcoma, MONDO:0012817",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:20:18.203701Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Tag new-gene-name tag was added to gene: T.",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2022-05-10T15:20:07.328605Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "commented on gene: T: Added new-gene-name tag, new approved HGNC gene symbol is TBXT",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2022-05-09T19:24:27.084707Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.69",
"user_name": "Dmitrijs Rots",
"item_type": "entity",
"text": "gene: FANCC was added\ngene: FANCC was added to Sarcoma susceptibility. Sources: Literature\nMode of inheritance for gene: FANCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FANCC were set to PMID: 35512711\nPhenotypes for gene: FANCC were set to Ewing Sarcome\nPenetrance for gene: FANCC were set to unknown\nReview for gene: FANCC was set to GREEN\nAdded comment: At least 6 individuals in PMID: 35512711 with significant enrichment (OR=12 and 7 in discovery and validation cohorts, respectively) \nSources: Literature",
"entity_name": "FANCC",
"entity_type": "gene"
},
{
"created": "2021-03-12T14:00:45.917419Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.69",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: T were changed from Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978 to Chordoma (disease), MONDO:0008978",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2021-03-12T13:53:47.038946Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.68",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WT1 were changed from Wilms tumour 1, 194070 to Wilms tumour 1, OMIM:194070; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2021-03-12T13:46:10.082115Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.67",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TNFRSF11A were changed from Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma to {Paget disease of bone 2, early-onset}, OMIM:602080; Osteosarcoma (disease), MONDO:0009807",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2021-03-12T13:41:23.367845Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.66",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PDGFRA were changed from Gastrointestinal stromal tumor, somatic 606764; Familial GIST to Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial, OMIM:175510; Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, MONDO:0008285",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2021-03-12T13:38:24.039338Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.65",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PAX7 were changed from Rhabdomyosarcoma 2, alveolar, 268220 to Rhabdomyosarcoma 2, alveolar, OMIM:268220",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2021-03-12T13:37:47.221575Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.64",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PAX3 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:44:56.805120Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "changed review comment from: Comment on mode of inheritance: somatic mosaicism; to: Comment on mode of inheritance: One case with somatic mosaicism (PMID: 20805368)",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:44:23.279107Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on mode of inheritance: somatic mosaicism",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:44:23.251322Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.63",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: KRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:43:32.972201Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.62",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: KRAS were set to ",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:43:28.852512Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.61",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KRAS were changed from Nevus, Epidermal 162900 to Nevus, Epidermal, OMIM:162900; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:39:53.272884Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.60",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FOXO1 were changed from Rhabdomyosarcoma, alveolar, 268220 to Rhabdomyosarcoma, alveolar, OMIM:268220",
"entity_name": "FOXO1",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:37:04.324740Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.59",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: DICER1 were set to 30989777",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:26:04.003121Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.58",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CREBBP were changed from Rubinstein-Taybi syndrome 1, 180849 to Rubinstein-Taybi syndrome 1, OMIM:180849; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:24:13.740749Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.57",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: WRN were changed from Werner syndrome 277700 to Werner syndrome, OMIM:277700; Osteosarcoma (disease), MONDO:0009807",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:16:10.695494Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.56",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:15:50.577202Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Coffin-Siris syndrome 3, OMIM:614608 and Rhabdoid tumors, somatic, OMIM:609322",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:15:50.549160Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.55",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCB1 were changed from Rhabdoid tu, schwannomatosis to {Rhabdoid tumor predisposition syndrome 1}, OMIM:609322; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; {Schwannomatosis-1, susceptibility to}, OMIM:162091; Schwannomatosis 1, MONDO:0024517",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:12:27.041166Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.54",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA4 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:12:21.393681Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.53",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA4 were changed from undifferentiated uterine sarcoma to Uterine corpus sarcoma, MONDO:0005210",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:04:45.265181Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.52",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHD were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:03:41.345264Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.51",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHC were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2021-03-12T11:02:28.778040Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.50",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SDHB were changed from to Paraganglioma and gastric stromal sarcoma, OMIM:606864; Carney-Stratakis syndrome, MONDO:0011740",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:57:42.846499Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.49",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RB1 were changed from Retinoblastoma, 180200 to Retinoblastoma, OMIM:180200; Osteosarcoma, somatic, OMIM:259500",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:52:56.030042Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.48",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Paraganglioma to Leiomyosarcoma, MONDO:0005058",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:52:34.854879Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.47",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTEN was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:52:28.081195Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.46",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: PTEN were set to ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:50:26.992006Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Colorectal cancer, hereditary nonpolyposis, type 4, OMIM:614337",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:50:26.963642Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.45",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: PMS2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 4, OMIM:619101; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:48:22.911476Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Aplastic anemia, OMIM:609135 and Leukemia, acute lymphoblastic, OMIM:613065",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-12T10:48:22.883805Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.44",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NBN were changed from Nijmegen breakage syndrome, 251260 to Nijmegen breakage syndrome, OMIM:251260; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:21:58.688989Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.43",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MSH6 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 3, OMIM:619097; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:20:23.507124Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.42",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MSH2 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 2, OMIM:619096; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:18:47.428009Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.41",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MLH1 were changed from Mismatch repair cancer syndrome, 276300 to Mismatch repair cancer syndrome 1, OMIM:276300; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:16:23.446627Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.40",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: KIT were changed from to Gastrointestinal stromal tumor, familial, OMIM:606764; Gastrointestinal stromal tumor, MONDO:0011719",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:14:26.801899Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.39",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: KIT was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:12:57.625647Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.38",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: HRAS were changed from Costello syndrome, 218040 to Costello syndrome, OMIM:218040; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2021-03-11T13:08:09.525628Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.37",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: FH were changed from Leiomyomatosis and renal cell cancer 150800 to Leiomyomatosis and renal cell cancer, OMIM:150800; Hereditary leiomyomatosis and renal cell cancer, MONDO:0007888; Leiomyosarcoma, MONDO:0005058",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2021-03-11T12:59:24.611904Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.36",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:38:59.827109Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.35",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATM were set to 27498913; 30567006",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:25:38.201058Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.34",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: ATM were set to 27498913",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:16:17.758087Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.33",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Publications for gene: APC were set to ",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:10:51.843297Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.32",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC2 were changed from to Sarcoma, MONDO:0005089",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:08:04.595118Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with IMAGE syndrome, OMIM:614732",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:08:04.566132Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.31",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: CDKN1C were changed from Beckwith-Wiedemann syndrome, 130650 to Beckwith-Wiedemann syndrome, OMIM:130650; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:05:44.523272Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.30",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1, 257300 to Mosaic variegated aneuploidy syndrome 1, OMIM:257300; Rhabdomyosarcoma (disease), MONDO:0005212",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:02:12.984229Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.29",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-03-11T11:02:06.750744Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.28",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Sarcoma, MONDO:0005089",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:54:02.221376Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.27",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: BLM was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:53:00.403634Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.26",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: BLM were changed from Bloom to Bloom syndrome, OMIM:210900; Osteosarcoma (disease), MONDO:0009807",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:48:02.683016Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.25",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATR was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:47:15.603772Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.24",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:43:14.247633Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.23",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATR were changed from to Sarcoma, MONDO:0005089",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:36:12.355426Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.22",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: ATM were changed from to Sarcoma, MONDO:0005089",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:31:39.925891Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.21",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Mode of inheritance for gene: APC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:30:37.146788Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.20",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: APC were changed from Gardner / fibromatosis; Gardner syndrome to Gardner syndrome, OMIM:175100; Sarcoma, MONDO:0005089",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:27:38.197204Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.19",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: TP53 were changed from Sarcoma; Li-Fraumeni syndrome, 151623 to Li-Fraumeni syndrome, OMIM:151623; Sarcoma, MONDO:0005089",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:24:12.969387Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with {Neural tube defects, susceptibility to}, OMIM:182940; Sacral agenesis with vertebral anomalies, OMIM:615709",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:24:12.941639Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.18",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: T were changed from Familial Chordoma; Chordoma to Susceptibility to Chordoma; Chordoma (disease), MONDO:0008978",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:19:37.489775Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437; Myopathy, distal, with rimmed vacuoles, OMIM:617158; Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, OMIM:617145",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:19:37.469769Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.17",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: SQSTM1 were changed from Osteosarcoma; Paget disease of bone 3 167250 to Paget disease of bone 3, OMIM:167250; Paget disease of bone 3, MONDO:0008176; Osteosarcoma (disease), MONDO:0009807",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:14:01.721680Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Baller-Gerold syndrome, OMIM:218600",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:14:01.698983Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.16",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma to RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400; Osteosarcoma (disease), MONDO:0009807",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:09:22.624427Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Leukemia, juvenile myelomonocytic, OMIM:607785; Neurofibromatosis-Noonan syndrome, OMIM:601321; Neurofibromatosis, familial spinal, OMIM:162210; Watson syndrome, OMIM:193520",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:09:22.596109Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.15",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: NF1 were changed from Neurofibromatosis, type 1 162200 to Neurofibromatosis, type 1, OMIM:162200; Neurofibromatosis type 1, MONDO:0018975",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:05:48.873598Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.14",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: MTAP were changed from Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone to Diaphyseal medullary stenosis with malignant fibrous histiocytoma, OMIM:112250; Diaphyseal medullary stenosis-bone malignancy syndrome, MONDO:0007205",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:03:50.851831Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Biallelic variants in this gene are associated with Seizures, scoliosis, and macrocephaly syndrome (MIM# 616682)",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:03:50.824098Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.13",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EXT2 were changed from Exostoses, multiple, type 2 to Exostoses, multiple, type 2, OMIM:133701; Exostoses, multiple, type 2, MONDO:0007586",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:02:31.703931Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: This gene is also associated with Exostoses, multiple, type 1 (MIM# 133700)",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-03-11T10:02:31.676687Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.12",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: EXT1 were changed from Chondrosarcoma 215300 to Chondrosarcoma, OMIM:215300; Chondrosarcoma (disease), MONDO:0008977",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2021-02-11T16:32:29.474604Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.11",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source: Expert Review Amber was removed from gene: EXT2",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2021-02-11T13:42:30.593966Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.8",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source: Expert Review Amber was removed from gene: NF1",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2021-02-11T13:41:03.593444Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.6",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Source: Expert Review Green was removed from gene: PDGFRA",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2020-12-02T12:48:43.028476Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.5",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "Phenotypes for gene: DICER1 were changed from Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295 to Pleuropulmonary blastoma, OMIM:601200; Pleuropulmonary blastoma, MONDO:0011014; Rhabdomyosarcoma, embryonal, 2, OMIM:180295; Embryonal rhabdomyosarcoma (disease), MONDO:0009993",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2020-02-18T16:47:27.924019Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-02-04T11:38:23.115411Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.1",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel version has been signed off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-10T16:38:49.414165Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "1.0",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-10T16:37:07.590060Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.11",
"user_name": "Ellen McDonagh",
"item_type": "panel",
"text": "Panel types changed to GMS Cancer Germline Virtual; GMS signed-off",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-08-01T13:19:25.370130Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Classified gene: EXT1 as Green List (high evidence)",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-08-01T13:19:25.361003Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.8",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Gene: ext1 has been classified as Green List (High Evidence).",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-08-01T13:19:13.114410Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.7",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to EXT1.\nRating Changed from No List (delete) to Red List (low evidence)",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-08-01T13:18:52.916267Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.6",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "All sources for gene: EXT1 were removed",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:26.067652Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SMARCB1.",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:26.010383Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SMARCA4.",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.929913Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.869228Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to ERCC2.",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.816990Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to BRCA2.",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.761020Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to BLM.",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.709013Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to ATR.",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.654646Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to ATM.",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.605936Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to APC.",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.550594Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to WT1.",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.497435Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to TNFRSF11A.",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.399702Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to PAX7.",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.342704Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to PAX3.",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.289072Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to KRAS.",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.233817Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to FOXO1.",
"entity_name": "FOXO1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.180528Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to DICER1.",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.122427Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to CREBBP.",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.071387Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to WRN.",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:25.010613Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SDHD.",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.959106Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SDHC.",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.907901Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SDHB.",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.854195Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to SDHA.",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.768211Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to RB1.",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.714288Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to PMS2.",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.654108Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to NBN.",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.595306Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to MSH6.",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.536452Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to MSH2.",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.488272Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to MLH1.",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.436735Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to KIT.",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.379982Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to HRAS.",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.320619Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to FH.",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.267088Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to CDKN1C.",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-08-01T11:32:24.198159Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.5",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "Source NHS GMS was added to BUB1B.",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:22.278119Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.3",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel status changed from internal to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-23T15:16:04.758414Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.743686Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.728316Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.713518Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224268; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.698546Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.684302Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 31190001; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.669162Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.651518Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.633482Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: APC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Gardner syndrome; Mode of inheritance: ",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.617915Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.602495Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.588000Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.572460Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660, 27050224; Phenotypes: Li-Fraumeni; Mode of inheritance: ",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.556218Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.537544Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.520068Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660; Phenotypes: ; Mode of inheritance: ",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.503938Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: PDGFRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:16:04.487646Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.2",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:14:47.111587Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.1",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Panel types changed to GMS Cancer Germline Virtual",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-07-23T15:13:42.576578Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ERCC2 was added\ngene: ERCC2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: ERCC2 was set to \nPublications for gene: ERCC2 were set to 27498913",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.535054Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: ATR was set to \nPublications for gene: ATR were set to 27498913",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.492907Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: ATM was set to \nPublications for gene: ATM were set to 27498913",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.452198Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: BRCA2 was set to \nPublications for gene: BRCA2 were set to 17224268; 27498913",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.398149Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: SMARCB1 was set to \nPhenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.325120Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: SMARCA4 was set to \nPublications for gene: SMARCA4 were set to 31190001\nPhenotypes for gene: SMARCA4 were set to undifferentiated uterine sarcoma",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.284090Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: BLM was set to \nPublications for gene: BLM were set to 28338660\nPhenotypes for gene: BLM were set to Bloom",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.244490Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: PTEN was set to \nPhenotypes for gene: PTEN were set to Paraganglioma",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.199709Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: APC was added\ngene: APC was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber\nMode of inheritance for gene: APC was set to \nPhenotypes for gene: APC were set to Gardner / fibromatosis; Gardner syndrome",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.157418Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WT1 were set to Wilms tumour 1, 194070",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.117491Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TNFRSF11A was added\ngene: TNFRSF11A was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNFRSF11A were set to 15758393; 12673693; 11351498\nPhenotypes for gene: TNFRSF11A were set to Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma",
"entity_name": "TNFRSF11A",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.062223Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PAX7 was added\ngene: PAX7 was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments\nPublications for gene: PAX7 were set to 25768946\nPhenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220",
"entity_name": "PAX7",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:42.003764Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PAX3 was added\ngene: PAX3 was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments\nPublications for gene: PAX3 were set to 25768946\nPhenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.963382Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KRAS was added\ngene: KRAS was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: KRAS were set to Nevus, Epidermal 162900",
"entity_name": "KRAS",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.919155Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FOXO1 was added\ngene: FOXO1 was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: FOXO1 was set to Other - please specifiy in evaluation comments\nPublications for gene: FOXO1 were set to 25768946\nPhenotypes for gene: FOXO1 were set to Rhabdomyosarcoma, alveolar, 268220",
"entity_name": "FOXO1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.880575Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: DICER1 was added\ngene: DICER1 was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: DICER1 were set to 30989777\nPhenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.843744Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Sarcoma susceptibility. Sources: Expert Review Red\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.807734Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WRN were set to 28338660\nPhenotypes for gene: WRN were set to Werner syndrome 277700",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.769936Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.733020Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.696170Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.658770Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.625314Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RB1 was added\ngene: RB1 was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RB1 were set to 28338660\nPhenotypes for gene: RB1 were set to Retinoblastoma, 180200",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.590135Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMS2 were set to 27050224\nPhenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.555920Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.519647Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.485986Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome, 276300",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.452048Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.416135Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome, 276300",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.379449Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: KIT was added\ngene: KIT was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "KIT",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.344769Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: HRAS was added\ngene: HRAS was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HRAS were set to Costello syndrome, 218040",
"entity_name": "HRAS",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.311146Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: FH was added\ngene: FH was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer 150800",
"entity_name": "FH",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.272748Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: EXT2 was added\ngene: EXT2 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXT2 were set to 27636706; 7726168; 29529714; 23770606\nPhenotypes for gene: EXT2 were set to Exostoses, multiple, type 2",
"entity_name": "EXT2",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.217790Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: EXT1 was added\ngene: EXT1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXT1 were set to 23770606; 29529714; 10441575\nPhenotypes for gene: EXT1 were set to Chondrosarcoma 215300",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.175342Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: CDKN1C was added\ngene: CDKN1C was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.136546Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Sarcoma susceptibility. Sources: Expert Review Amber\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.098371Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TP53 were set to 27050224; 28338660\nPhenotypes for gene: TP53 were set to Sarcoma; Li-Fraumeni syndrome, 151623",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.059111Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: T was added\ngene: T was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: T was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: T were set to 23064415; 19801981\nPhenotypes for gene: T were set to Familial Chordoma; Chordoma",
"entity_name": "T",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:41.019468Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: SQSTM1 was added\ngene: SQSTM1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SQSTM1 were set to 21437228; 11473345; 9345096; 12374763\nPhenotypes for gene: SQSTM1 were set to Osteosarcoma; Paget disease of bone 3 167250",
"entity_name": "SQSTM1",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:40.977112Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: RECQL4 was added\ngene: RECQL4 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RECQL4 were set to 12734318; 17264332; 12612652; 28338660\nPhenotypes for gene: RECQL4 were set to Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:40.939478Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: PDGFRA was added\ngene: PDGFRA was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Red\nMode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PDGFRA were set to 26297068; 14699510; 17566086; 25975287\nPhenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, somatic 606764; Familial GIST",
"entity_name": "PDGFRA",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:40.891302Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "entity",
"text": "gene: MTAP was added\ngene: MTAP was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: MTAP were set to 19197386; 22464254\nPhenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone",
"entity_name": "MTAP",
"entity_type": "gene"
},
{
"created": "2019-07-23T15:13:40.855597Z",
"panel_name": "Sarcoma susceptibility",
"panel_id": 734,
"panel_version": "0.0",
"user_name": "Rebecca Foulger",
"item_type": "panel",
"text": "Added panel Sarcoma susceptibility",
"entity_name": null,
"entity_type": null
}
]