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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=393",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=391",
"results": [
{
"created": "2024-09-12T13:31:08.530497+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanoma, MONDO:0005105, BAP1-related tumor predisposition syndrome, MONDO:0013692, BAP1-tumour predisposition syndrome, MIM#614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T13:27:53.425348+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T13:27:04.150357+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Melanoma, MONDO:0005105, BAP1-related tumor predisposition syndrome, MONDO:0013692, BAP1-tumour predisposition syndrome, MIM#614327; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T13:14:18.664008+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from retired to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T13:10:16.125956+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTCH2 was added\ngene: PTCH2 was added to Basal Cell Cancer. Sources: Literature,Expert Review\nMode of inheritance for gene: PTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTCH2 were set to PMID: 34170463, 18285427, 23479190, 30820324, 38354379\nPhenotypes for gene: PTCH2 were set to Basal cell carcinoma, MONDO:0020804; Nevoid basal cell carcinoma syndrome, MONDO:0007187\nReview for gene: PTCH2 was set to RED\nAdded comment: A number of case/family reports have proposed PTCH2 as a putative Gorlin Syndrome (GS) gene, but evidence to support this is lacking. PMID: 34170463 paper found no pathogenic or likely pathogenic PTCH2 variants in cohort of 21 PTCH1/SUFU negative GS families.\r\nThey assessed evidence from reported cases/families with PTCH2 variants, and determined that none of the previously published PTCH2 variants in GS families/cases could be considered pathogenic or likely pathogenic using current guidelines. There is also a high frequency of Loss-of-function (LoF) variants in the general population, including the presence of homozygous LoF variants without a clinical phenotype. \nSources: Literature, Expert Review",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:59:14.204005+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Schwannomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:59:06.503774+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Schwannomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:58:57.754544+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Schwannomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:58:49.851464+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Schwannomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:58:18.574999+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Meningiomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:52.472921+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Meningiomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:44.106722+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Meningiomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:34.062761+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Meningiomas reported in condition. \r\nSources: Expert list, Expert Review",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:18.346731+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:18.332344+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:12.632205+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Basal Cell Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SUFU were set to PMID: 20301330\nPhenotypes for gene: SUFU were set to Basal cell carcinoma, MONDO:0020804; Basal cell nevus syndrome 2, MONDO:0958189; Basal cell nevus syndrome 2, MIM#620343; Meningioma, familial, susceptibility to, MIM#607174; Medulloblastoma predisposition syndrome, MIM#155255\nReview for gene: SUFU was set to GREEN\nAdded comment: Established gene-disease association with basal cell nevus syndrome (also known as Gorlin syndrome). Basal cell cancers reported in condition. ClinGen definitive for medulloblastoma. \nSources: Expert list, Expert Review",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:57:02.691166+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive\r\nBasal cell cancers reported in condition \nSources: Expert list, Expert Review; to: ClinGen definitive. Basal cell cancers reported in condition \r\nSources: Expert list, Expert Review",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:55:58.942783+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Green List (high evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:55:58.930921+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:55:58.410340+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Green List (high evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:55:58.397582+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:55:04.358887+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Basal Cell Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Basal cell carcinoma, MONDO:0020804; Basal cell nevus syndrome 1, MONDO:0958174; Basal cell nevus syndrome 1, MIM#109400\nReview for gene: PTCH1 was set to GREEN\nAdded comment: ClinGen definitive\r\nBasal cell cancers reported in condition \nSources: Expert list, Expert Review",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:41:13.499850+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Schwannoma. Sources: Expert Review,Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA4 were set to PMID: 36786840\nPhenotypes for gene: SMARCA4 were set to Schwannoma, MONDO:0002546; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325\nReview for gene: SMARCA4 was set to RED\nAdded comment: ClinGen definitive for RTPS2\r\n\r\n1 family with 3 affected individuals with adult-onset schwannomas (2/3), glioblastoma (1/3), and malignant peripheral nerve sheath tumour (1/3). Whole-genome sequencing in proband identified a variant in SMARCA4 gene ([c.1752_1755del, p.(Lys585Argfs*27).\r\n\r\nIn the schwannomas, immunohistochemical (IHC) staining showed loss of BRG1 (SMARCA4) expression in 80–90% of cells and loss of INI1 (SMARCB1) in the complementary 10–20% of cells in all 5 schwannomas but complete retention of BRG1 and INI1 in the glioblastoma. \r\n\r\nWhole exome sequencing (WES) of DNA from proband's blood, mother’s normal skin, all 5 \r\nschwannomas and the glioblastoma, confirmed the presence of the truncating SMARCA4 LPV in all samples. LOH was observed at the SMARCA4 locus, extending to 12–23 Mb of Chromosome 19p (Chr19p) in all schwannomas, but not in the glioblastoma. No LOH of Chr22q was detected in the schwannomas. The germline SMARCA4 variant was also detected in proband's maternal grandfather’s MPNST in a heterozygous state. \nSources: Expert Review, Literature",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:27:28.883118+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive for RTPS2\r\n\r\n11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. \nSources: Expert Review, Literature; to: ClinGen definitive for RTPS2\r\n\r\n11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. \r\nSources: Expert Review, Literature",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:25:45.114043+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMARCA4 as Amber List (moderate evidence)",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:25:45.082490+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:25:38.101319+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Neuroblastoma. Sources: Expert Review,Literature\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCA4 were set to Neuroblastoma, MONDO:0005072; Rhabdoid tumor predisposition syndrome 2, MONDO:0013224; Rhabdoid tumor predisposition syndrome 2, MIM#613325\nReview for gene: SMARCA4 was set to AMBER\nAdded comment: ClinGen definitive for RTPS2\r\n\r\n11 patients with neuroblastoma (age of diagnosis from 2 months-26 years) with heterozygous germline variants in SMARCA4. Eight of the germline variants were expected to result in loss of function of SMARCA4 (large deletion, truncating and canonical splice variants), while the remaining four were missense variants. Loss of heterozygosity of the wild-type SMARCA4 allele was found in all eight cases where somatic testing was performed, supporting the notion that SMARCA4 functions as a classic tumour suppressor. \nSources: Expert Review, Literature",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:19:41.464919+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PHOX2B as Green List (high evidence)",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:19:41.450684+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: phox2b has been classified as Green List (High Evidence).",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:19:35.183926+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PHOX2B was added\ngene: PHOX2B was added to Neuroblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: PHOX2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PHOX2B were set to PMID: 17637745\nPhenotypes for gene: PHOX2B were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 2, MONDO:0700041; Neuroblastoma, susceptibility to, 2, MIM#613013; Neuroblastoma with Hirschsprung disease, MIM #613013\nReview for gene: PHOX2B was set to GREEN\nAdded comment: ClinGen definitive \nSources: Expert list, Expert Review",
"entity_name": "PHOX2B",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:19:21.262875+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ALK as Green List (high evidence)",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:19:21.249952+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: alk has been classified as Green List (High Evidence).",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-09-12T12:17:01.650147+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ALK was added\ngene: ALK was added to Neuroblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: ALK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ALK were set to PMID: 18724359\nPhenotypes for gene: ALK were set to Neuroblastoma, MONDO:0005072; Neuroblastoma susceptibility to 3, MONDO:0013083; Neuroblastoma, susceptibility to, 3, MIM#613014\nReview for gene: ALK was set to GREEN\nAdded comment: ClinGen definitive \nSources: Expert list, Expert Review",
"entity_name": "ALK",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:55:43.936970+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DGCR8 was added\ngene: DGCR8 was added to Schwannoma. Sources: Literature,Expert Review\nMode of inheritance for gene: DGCR8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DGCR8 were set to PMID: 31805011\nPhenotypes for gene: DGCR8 were set to Schwannoma, MONDO:0002546; Early-onset multinodular goiter and schwannomatosis, no MIM#\nReview for gene: DGCR8 was set to RED\nAdded comment: 1 family with 6 affected individuals with early-onset MNG (6/6) and adult-onset schwannomatosis (5/6). Whole-exome sequencing identified a variant in DGCR8 gene (c.1552G>A; p.E518K) which segregated with disease. \r\n\r\nCopy number loss of chromosome 22q, leading to loss of heterozygosity at the DGCR8 locus, was found in all 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumours. miRNA profiling of PTCs, MNG, schwannomas, and Wilms tumours revealed a common profile among E518K hemizygous tumours. In vitro cleavage demonstrated improper processing of pre-miRNA by DGCR8-E518K. MicroRNA and RNA profiling show that this variant disrupts precursor microRNA production, impacting populations of canonical microRNAs and mirtrons. \nSources: Literature, Expert Review",
"entity_name": "DGCR8",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:46:53.312731+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBSN as ready",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:46:53.296926+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbsn has been classified as Red List (Low Evidence).",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:46:44.530459+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RBSN was added\ngene: RBSN was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: RBSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBSN were set to 29784638\nPhenotypes for gene: RBSN were set to Myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities, MIM#\t620939\nReview for gene: RBSN was set to RED\nAdded comment: Single family reported, 3 affected sibs, homozygous splice site variant. However, also note biallelic variants in this gene have also been associated with a neurodevelopmental syndrome in the absence of bone marrow involvement, Kariminejad-Reversade neurodevelopmental syndrome, MIM#620937. Given the overall small number of families reported, it is currently unclear whether these are two distinct disorders or part of a spectrum. \nSources: Literature",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:42:59.441916+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: LZTR1 as Green List (high evidence)",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:42:59.421204+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: lztr1 has been classified as Green List (High Evidence).",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:40:49.257987+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6207",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBSN were changed from intellectual disability, MONDO:0001071 to Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:40:08.606673+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6206",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBSN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:39:44.314534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBSN were changed from intellectual disability, MONDO:0001071, RBSN-related to Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:39:24.307042+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: LZTR1 was added\ngene: LZTR1 was added to Schwannoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: LZTR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LZTR1 were set to PMID: 24362817, 29517885\nPhenotypes for gene: LZTR1 were set to Schwannoma, MONDO:0002546; Schwannomatosis 2, MONDO:0014299; Schwannomatosis, susceptibility to, 2, MIM#615670\nReview for gene: LZTR1 was set to GREEN\ngene: LZTR1 was marked as current diagnostic\nAdded comment: 15 different germline heterozygous mutations in the LZTR1 gene identified in 16/20 probands with schwannomatosis. There were 6 truncating mutations, 1 in-frame splice site mutation, 1 deletion affecting a splice site, and 7 missense mutations at highly conserved residues. Mutations segregated with disease in all available affected first-degree relatives, although four asymptomatic parents also carried an LZTR1 mutation.\r\n\r\nAll schwannomas studied also carried the heterozygous LZTR1 mutation, and all showed loss of heterozygosity (LOH) at chromosome 22q11, including the LZTR1, NF2, and SMARCB1 genes. In addition, all tumours carried a heterozygous somatic mutation in the NF2 gene. These findings were consistent with biallelic loss of function of both LZTR1 and NF2 in all tumours. Functional studies of the variants were not performed. Pathogenesis of tumour characterised as resulting from 3 mutational events: a germline LZTR1 mutation (E1), a deletion of 22q that includes the LZTR1 and NF2 genes (E2), and a somatic NF2 mutation (E3). Loss of LZTR1 function can predispose to the development of autosomal dominant multiple schwannomas, thus implicating LZTR1 as a tumor suppressor gene. \nSources: Expert list, Expert Review",
"entity_name": "LZTR1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:38:43.940864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBSN: Changed phenotypes: Kariminejad-Reversade neurodevelopmental syndrome, MIM# 620937",
"entity_name": "RBSN",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:31:04.319201+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Green List (high evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:31:04.295560+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: prkar1a has been classified as Green List (High Evidence).",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:58.663957+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NF1 as Green List (high evidence)",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:58.653516+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nf1 has been classified as Green List (High Evidence).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:53.822021+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NF2 as Green List (high evidence)",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:53.799776+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nf2 has been classified as Green List (High Evidence).",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:49.400196+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Schwannoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: PRKAR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKAR1A were set to Schwannoma, MONDO:0002546; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980\nReview for gene: PRKAR1A was set to GREEN\ngene: PRKAR1A was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:45.969372+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMARCB1 as Green List (high evidence)",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:45.951438+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:32.461692+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Schwannoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCB1 were set to Schwannoma, MONDO:0002546; Schwannomatosis 1, MONDO:0024517; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322; Schwannomatosis, susceptibility to, 1, MIM#162091\nReview for gene: SMARCB1 was set to GREEN\ngene: SMARCB1 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:08.978557+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to Schwannoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Schwannoma, MONDO:0002546; Neurofibromatosis type 2, MONDO:0007039; Neurofibromatosis, type 2, MIM#607174\nReview for gene: NF2 was set to GREEN\ngene: NF2 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:30:03.366209+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to Schwannoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Schwannoma, MONDO:0002546; Neurofibromatosis type 1, MONDO:0018975; Neurofibromatosis, type 1, MIM#162200\nReview for gene: NF1 was set to GREEN\ngene: NF1 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nSchwannomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:31.809378+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:31.793376+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:26.514389+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMARCE1 as Green List (high evidence)",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:26.496672+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smarce1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:21.248634+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SMARCB1 as Green List (high evidence)",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:21.207255+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:16.049965+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NF2 as Green List (high evidence)",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:16.034178+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nf2 has been classified as Green List (High Evidence).",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:10.688760+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BAP1 as Green List (high evidence)",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:17:10.675890+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bap1 has been classified as Green List (High Evidence).",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:00:25.134111+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Meningioma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SUFU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SUFU were set to Meningioma, MONDO:0016642; Basal cell nevus syndrome 2, MONDO:0958189; Basal cell nevus syndrome 2, MIM#620343; Meningioma, familial, susceptibility to, MIM#607174; Medulloblastoma predisposition syndrome, MIM#155255\nReview for gene: SUFU was set to GREEN\ngene: SUFU was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-12T11:00:11.023967+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCE1 was added\ngene: SMARCE1 was added to Meningioma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCE1 were set to Meningioma, MONDO:0016642; Meningioma, familial, susceptibility to, MIM#607174\nReview for gene: SMARCE1 was set to GREEN\ngene: SMARCE1 was marked as current diagnostic\nAdded comment: ClinGen definitive \nSources: Expert list, Expert Review",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2024-09-12T10:59:52.163642+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Meningioma. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCB1 were set to Meningioma, MONDO:0016642; Rhabdoid tumor predisposition syndrome 1, MONDO:0012252; Rhabdoid tumor predisposition syndrome 1, MIM#609322; Schwannomatosis, susceptibility to, 1, MIM#162091\nReview for gene: SMARCB1 was set to GREEN\ngene: SMARCB1 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2024-09-12T10:59:23.153372+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to Meningioma. Sources: Expert list,Expert Review\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Meningioma, MONDO:0016642; Neurofibromatosis type 2, MONDO:0007039; Neurofibromatosis, type 2, MIM#607174\nReview for gene: NF2 was set to GREEN\ngene: NF2 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2024-09-12T10:58:46.756300+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BAP1 was added\ngene: BAP1 was added to Meningioma. Sources: Expert list,Expert Review\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAP1 were set to Meningioma, MONDO:0016642; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327\nReview for gene: BAP1 was set to GREEN\ngene: BAP1 was marked as current diagnostic\nAdded comment: ClinGen definitive\r\nMeningiomas reported in condition \nSources: Expert list, Expert Review",
"entity_name": "BAP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T10:28:08.333790+10:00",
"panel_name": "Breast Cancer",
"panel_id": 4375,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Breast Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:28:06.945582+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Ovarian Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:27:00.225285+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Endometrial Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:26:44.815739+10:00",
"panel_name": "Prostate Cancer",
"panel_id": 4372,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Prostate Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:26:30.488020+10:00",
"panel_name": "Colorectal Cancer and Polyposis",
"panel_id": 4371,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Colorectal Cancer and Polyposis\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:25:25.042846+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Pancreatic Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:24:55.793086+10:00",
"panel_name": "Gastrointestinal Stromal Tumour",
"panel_id": 4369,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Gastrointestinal Stromal Tumour\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:24:43.821658+10:00",
"panel_name": "Diffuse Gastric Cancer",
"panel_id": 4368,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Diffuse Gastric Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:23:44.731183+10:00",
"panel_name": "Kidney Cancer",
"panel_id": 4367,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Kidney Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:23:40.947016+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Wilms Tumour\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:23:38.151282+10:00",
"panel_name": "Paraganglioma_phaeochromocytoma",
"panel_id": 4365,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Paraganglioma_phaeochromocytoma\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:21:32.271132+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Pituitary Tumour\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:21:15.460176+10:00",
"panel_name": "Parathyroid Neoplasm",
"panel_id": 4363,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Parathyroid Neoplasm\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:21:01.584384+10:00",
"panel_name": "Thyroid Neoplasm",
"panel_id": 4362,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Thyroid Neoplasm\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:20:40.260257+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from public to retired",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:18:55.282750+10:00",
"panel_name": "Neuroblastoma",
"panel_id": 4361,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Neuroblastoma\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:18:41.857950+10:00",
"panel_name": "Basal Cell Cancer",
"panel_id": 4360,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Basal Cell Cancer\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:17:43.507809+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from public to retired",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:15:43.372538+10:00",
"panel_name": "Sarcoma non-soft tissue",
"panel_id": 4359,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Sarcoma non-soft tissue\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:15:27.481055+10:00",
"panel_name": "Sarcoma soft tissue",
"panel_id": 4358,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Sarcoma soft tissue\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:13:48.779709+10:00",
"panel_name": "Schwannoma",
"panel_id": 4357,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Schwannoma\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T10:12:48.740004+10:00",
"panel_name": "Meningioma",
"panel_id": 4356,
"panel_version": "0.0",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Added Panel Meningioma\nSet panel types to: Cancer Germline",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T06:52:36.269675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2012",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: B2M was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2024-09-12T06:52:13.201456+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2011",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: B2M: Rating: GREEN; Mode of pathogenicity: None; Publications: 22693999, 37223323, 24014031, 35575118, 32875920; Phenotypes: variant ABeta2M amyloidosis MONDO:0017810; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "B2M",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:38:54.300531+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU2-2P as ready",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:38:54.270736+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:38:43.562302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNU2-2P as ready",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:38:43.547129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnu2-2p has been classified as Green List (High Evidence).",
"entity_name": "RNU2-2P",
"entity_type": "gene"
},
{
"created": "2024-09-11T17:37:09.461653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNU2-2P as Green List (high evidence)",
"entity_name": "RNU2-2P",
"entity_type": "gene"
}
]
}