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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=390",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=388",
"results": [
{
"created": "2024-09-13T09:58:09.617743+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive. Medulloblastoma reported in condition.; to: ClinGen definitive. Medulloblastoma reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-13T08:23:03.069708+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32296180, 39184053; Phenotypes: Medulloblastoma, MONDO:0007959, Medulloblastoma predisposition syndrome, MIM#155255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2024-09-13T08:12:18.514051+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: GPR161: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31609649, 39184053; Phenotypes: Medulloblastoma, MONDO:0007959, Medulloblastoma predisposition syndrome, MIM#155255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:48:08.647102+10:00",
"panel_name": "Melanoma",
"panel_id": 3279,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from public to internal",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-13T07:47:54.916977+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from public to internal",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-13T07:47:44.645352+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA2 as Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:44.631031+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:40.756522+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EPCAM as Green List (high evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:40.740859+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:36.161947+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:36.147891+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:31.630443+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:31.618524+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Green List (High Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:27.324712+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:27.310992+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Green List (High Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:22.546927+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PMS2 as Green List (high evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:22.535918+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Green List (High Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:47:16.795595+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101\nReview for gene: PMS2 was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition.\r\n\r\nNote: there is a high level of homology between PMS2 and pseudogenes. \nSources: Expert list, Expert Review",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:46:55.348712+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097\nReview for gene: MSH6 was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:46:47.339946+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096\nReview for gene: MSH2 was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:46:38.942693+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 2, MONDO:0012249; Mismatch repair cancer syndrome 1, MONDO:0010159; Lynch syndrome 2, MIM#609310; Mismatch repair cancer syndrome 1, MIM#276300\nReview for gene: MLH1 was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:45:55.326706+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Medulloblastoma, MONDO:0007959; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition.\r\n\r\nDeletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. \nSources: Expert list, Expert Review",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:45:35.066653+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Medulloblastoma. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA2 were set to Medulloblastoma, MONDO:0007959; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555\nReview for gene: BRCA2 was set to GREEN\nAdded comment: ClinGen definitive. Medulloblastoma reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:43:54.457797+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medulloblastoma, MONDO:0007959, Li-Fraumeni syndrome, MONDO:0018875, Li-Fraumeni syndrome, MIM#151623; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:43:42.196609+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medulloblastoma, MONDO:0007959, 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; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:43:31.037148+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medulloblastoma, MONDO:0007959, Basal cell nevus syndrome 1, MONDO:0958174, Basal cell nevus syndrome 1, MIM#109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:42:50.020681+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medulloblastoma, MONDO:0007959, Familial adenomatous polyposis 1, MONDO:0021056, Adenomatous polyposis coli, MIM#175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:41:34.877933+10:00",
"panel_name": "Medulloblastoma",
"panel_id": 3280,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel status changed from retired to public",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-13T07:25:30.957788+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: ATM as Green List (high evidence)",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:30.944578+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: atm has been classified as Green List (High Evidence).",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:26.190571+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: STK11 as Green List (high evidence)",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:26.175249+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Green List (High Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:20.079768+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TP53 as Green List (high evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:20.068526+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: tp53 has been classified as Green List (High Evidence).",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:07.617616+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PALB2 as Green List (high evidence)",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:07.602355+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: palb2 has been classified as Green List (High Evidence).",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:02.228127+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:25:02.159924+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:56.590129+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA2 as Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:56.570524+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:50.175776+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CDKN2A as Green List (high evidence)",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:50.161802+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdkn2a has been classified as Green List (High Evidence).",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:42.556757+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDKN2A was added\ngene: CDKN2A was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN2A were set to Malignant pancreatic neoplasm, MONDO:0009831; Melanoma-pancreatic cancer syndrome, MONDO:0011713; Melanoma and neural system tumor syndrome, MONDO:0007967; Melanoma cutaneous malignant susceptibility to 2, MONDO:0007964; Melanoma, cutaneous malignant, 2, MIM#155601; Melanoma-pancreatic cancer syndrome, MIM#606719; Melanoma and neural system tumor syndrome, MIM#155755\nReview for gene: CDKN2A was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition \nSources: Expert list, Expert Review",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:14.580255+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA1 were set to Malignant pancreatic neoplasm, MONDO:0009831; BRCA1-related cancer predisposition, MONDO:0700268; Breast-ovarian cancer, familial, 1, MIM#604370\nReview for gene: BRCA1 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:24:10.557337+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA2 were set to Malignant pancreatic neoplasm, MONDO:0009831; BRCA2-related cancer predisposition, MONDO:0700269; Breast-ovarian cancer, familial, 2, MIM#612555\nReview for gene: BRCA2 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:23:35.706081+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PALB2 were set to Malignant pancreatic neoplasm, MONDO:0009831; PALB2-related cancer predisposition, MONDO:0700272; Breast-ovarian cancer, familial, susceptibility to, 5, MIM#620442; Pancreatic cancer, susceptibility to, 3, MIM#613348\nReview for gene: PALB2 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:22:59.055866+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Malignant pancreatic neoplasm, MONDO:0009831; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:22:54.358231+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: STK11 was added\ngene: STK11 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STK11 were set to Malignant pancreatic neoplasm, MONDO:0009831; Peutz-Jeghers syndrome, MONDO:0008280; Peutz-Jeghers syndrome, MIM#175200\nReview for gene: STK11 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition.\r\nSingle gene testing may be more appropriate if clinical features of JPS. \nSources: Expert list, Expert Review",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:22:08.179260+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ATM was added\ngene: ATM was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ATM were set to Malignant pancreatic neoplasm, MONDO:0009831; ATM-related cancer predisposition, MONDO:0700270; Breast cancer, susceptibility to, MIM#114480\nReview for gene: ATM was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "ATM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:10.655199+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EPCAM as Green List (high evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:10.624145+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: epcam has been classified as Green List (High Evidence).",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:06.254646+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PMS2 as Green List (high evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:06.242005+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pms2 has been classified as Green List (High Evidence).",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:01.148933+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:20:01.129689+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh6 has been classified as Green List (High Evidence).",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:19:55.822537+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:19:55.797906+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: msh2 has been classified as Green List (High Evidence).",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:19:50.839181+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:19:50.825265+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: mlh1 has been classified as Green List (High Evidence).",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:19:36.049010+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PMS2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: PMS2 were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 4, MONDO:0013699; Mismatch repair cancer syndrome 4, MONDO:0030843; Lynch syndrome 4, MIM#614337; Mismatch repair cancer syndrome 4, MIM#619101\nReview for gene: PMS2 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition.\r\n\r\nNote: there is a high level of homology between PMS2 and pseudogenes. \nSources: Expert list, Expert Review",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:18:58.191485+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH6 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH6 were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 5, MONDO:0013710; Mismatch repair cancer syndrome 3, MONDO:0030841; Lynch syndrome 5, MIM#614350; Mismatch repair cancer syndrome 3, MIM#619097\nReview for gene: MSH6 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:18:45.870425+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MSH2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MSH2 were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 1, MONDO:0007356; Mismatch repair cancer syndrome 2, MONDO:0030840; Lynch syndrome 1, MIM#120435; Mismatch repair cancer syndrome 2, MIM#619096\nReview for gene: MSH2 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:18:34.707265+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: MLH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: MLH1 were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 2, MONDO:0012249; Mismatch repair cancer syndrome 1, MONDO:0010159; Lynch syndrome 2, MIM#609310; Mismatch repair cancer syndrome 1, MIM#276300\nReview for gene: MLH1 was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-13T07:17:53.679905+10:00",
"panel_name": "Pancreatic Cancer",
"panel_id": 4370,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Pancreatic Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: EPCAM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: EPCAM were set to Malignant pancreatic neoplasm, MONDO:0009831; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Pancreatic cancer reported in condition.\r\n\r\nDeletion of 3’end of EPCAM gene leading to epigenetic silencing of adjacent downstream MSH2 gene. \nSources: Expert list, Expert Review",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-13T06:45:27.049306+10:00",
"panel_name": "Parathyroid Cancer",
"panel_id": 4363,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Parathyroid Neoplasm to Parathyroid Cancer",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-12T22:19:33.489662+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:30.223125+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CAMK2A",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:22.981983+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:17.501706+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:11.893083+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:07.124607+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:03.837970+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "GNAI1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:19:00.187627+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:56.395553+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:53.070648+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:49.715184+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:46.351557+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:43.124619+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:39.383483+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:35.673805+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:32.460453+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:29.173516+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:25.427917+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:18:21.675620+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2024-09-12T22:17:16.655100+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2024-09-12T21:49:00.359795+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "changed review comment from: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS.\r\n\r\nAnother in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar.\r\n\r\nBraden et al., (2021; 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that \"All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16).\" \nSources: Expert list, Expert Review; to: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS.\r\n\r\nAnother in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar.\r\n\r\nBraden et al., (2021; PMID: 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that \"All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16).\" \r\nSources: Expert list, Expert Review",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T21:35:24.135513+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: FOXP1 was added\ngene: FOXP1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: FOXP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXP1 were set to 34109629\nPhenotypes for gene: FOXP1 were set to Intellectual developmental disorder with language impairment with or without autistic features, MIM# 613670\nReview for gene: FOXP1 was set to GREEN\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. The proband shows mild CAS.\r\n\r\nAnother in-house (unpublished) CAS proband with a de novo splice variant that is listed as pathogenic in ClinVar.\r\n\r\nBraden et al., (2021; 34109629) examined 29 probands with pathogenic FOXP1 variants, and reported that \"All verbal patients had dysarthric and apraxic features, with phonologicaldeficits in most (14 out of 16).\" \nSources: Expert list, Expert Review",
"entity_name": "FOXP1",
"entity_type": "gene"
},
{
"created": "2024-09-12T21:08:57.253273+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: TRIM8 was added\ngene: TRIM8 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: TRIM8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TRIM8 were set to Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428\nReview for gene: TRIM8 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "TRIM8",
"entity_type": "gene"
},
{
"created": "2024-09-12T21:06:11.384976+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: TAB2 was added\ngene: TAB2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: TAB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TAB2 were set to Congenital heart defects, nonsyndromic, 2, MIM# 614980\nReview for gene: TAB2 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "TAB2",
"entity_type": "gene"
},
{
"created": "2024-09-12T21:01:37.771050+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SPTBN1 was added\ngene: SPTBN1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SPTBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SPTBN1 were set to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619475\nReview for gene: SPTBN1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SPTBN1",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:59:31.527825+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SMARCA2 was added\ngene: SMARCA2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMARCA2 were set to Blepharophimosis-impaired intellectual development syndrome, MIM# 619293; Nicolaides-Baraitser syndrome, MIM# 601358\nReview for gene: SMARCA2 was set to RED\nAdded comment: Two in-house (as yet unpublished) CAS probands with pathogenic variants. \nSources: Expert list, Expert Review",
"entity_name": "SMARCA2",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:56:26.905053+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SLC6A1 was added\ngene: SLC6A1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SLC6A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC6A1 were set to Myoclonic-atonic epilepsy, MIM# 616421\nReview for gene: SLC6A1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SLC6A1",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:43:21.209492+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SETD5 was added\ngene: SETD5 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SETD5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SETD5 were set to Intellectual developmental disorder, autosomal dominant 23, MIM# 615761\nReview for gene: SETD5 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SETD5",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:40:30.296042+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SETD2 was added\ngene: SETD2 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SETD2 were set to Intellectual developmental disorder, autosomal dominant 70, MIM# 620157; Luscan-Lumish syndrome, MIM# 616831; Rabin-Pappas syndrome, MIM# 620155\nReview for gene: SETD2 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:36:24.534637+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SET was added\ngene: SET was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SET were set to Intellectual developmental disorder, autosomal dominant 58, MIM# 618106\nReview for gene: SET was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:29:21.487172+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: SCN8A was added\ngene: SCN8A was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Developmental and epileptic encephalopathy 13, MIM# 614558; Seizures, benign familial infantile, 5, MIM# 617080\nReview for gene: SCN8A was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:19:38.364454+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: RAF1 was added\ngene: RAF1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAF1 were set to Cardiomyopathy, dilated, 1NN, MIM# 615916; LEOPARD syndrome 2, MIM# 611554; Noonan syndrome 5, MIM# 611553\nReview for gene: RAF1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "RAF1",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:17:06.246441+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: PPP2R5D was added\ngene: PPP2R5D was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1, MIM# 616355\nReview for gene: PPP2R5D was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:12:17.771891+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to Speech apraxia. Sources: Expert list,Expert Review\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NSD1 were set to Sotos syndrome, MIM# 117550\nReview for gene: NSD1 was set to RED\nAdded comment: An in-house (as yet unpublished) CAS proband with a pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-09-12T20:04:55.053194+10:00",
"panel_name": "Speech apraxia",
"panel_id": 4290,
"panel_version": "1.6",
"user_name": "Thomas Scerri",
"item_type": "entity",
"text": "commented on gene: KDM5C: An in-house (as yet unpublished) CAS proband with a pathogenic variant.",
"entity_name": "KDM5C",
"entity_type": "gene"
}
]
}