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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=382",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=380",
"results": [
{
"created": "2024-09-26T14:47:16.609633+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 19966803, 26467218, 28594414; Phenotypes: Noonan syndrome 6, MIM# 613224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NRAS",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:43:44.195842+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15138899, 32139166, 28347285, 8852662, 9856524; Phenotypes: Joubert syndrome 4, MIM# 609583, Nephronophthisis 1, juvenile, MIM# 256100, Senior-Loken syndrome-1, MIM# 266900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:42:08.563431+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24167467, 25589041, 31969185,; Phenotypes: Microphthalmia, syndromic 5, MIM# 610125, Pituitary hormone deficiency, combined, 6, MIM# 613986, Retinal dystrophy, early-onset, with or without pituitary dysfunction, MIM# 610125, Otocephaly-dysgnathia complex; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:37:34.134724+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25159689, 31119193, 31928268; Phenotypes: 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR, Optic atrophy 3 with cataract (MIM#165300), AD; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2024-09-26T14:35:42.871183+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6248",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20727516, 32240828, 29192239, 28386946; Phenotypes: Pseudo-TORCH syndrome 1, MIM#251290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:26:15.789001+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.325",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: STAMBP as ready",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:26:15.762217+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.325",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: stambp has been classified as Green List (High Evidence).",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:26:08.775694+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.325",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: STAMBP were set to ",
"entity_name": "STAMBP",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:25:03.679728+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.324",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: STAR as ready",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:25:03.662535+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.324",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: star has been classified as Green List (High Evidence).",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:24:57.060073+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.324",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: STAR were set to ",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:23:36.732816+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.323",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TBCE as ready",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:23:36.717697+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.323",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tbce has been classified as Green List (High Evidence).",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-09-26T13:23:31.991195+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.323",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: TBCE were changed from Kenny-Caffey syndrome-1, 244460 (3) to Encephalopathy, progressive, with amyotrophy and optic atrophy MIM#617207; Hypoparathyroidism-retardation-dysmorphism syndrome MIM#241410; Kenny-Caffey syndrome, type 1 MIM#244460",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:18.864685+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDHD as Green List (high evidence)",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:18.854755+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdhd has been classified as Green List (High Evidence).",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:14.696383+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDHC as Green List (high evidence)",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:14.675468+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Green List (High Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:10.635358+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDHB as Green List (high evidence)",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:10.610745+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdhb has been classified as Green List (High Evidence).",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:06.677568+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: SDHA as Green List (high evidence)",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:06.661501+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: sdha has been classified as Green List (High Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:02.901375+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PRKAR1A as Green List (high evidence)",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:58:02.879043+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.15",
"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": "2024-09-26T12:57:58.422664+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MEN1 as Green List (high evidence)",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:58.406756+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: men1 has been classified as Green List (High Evidence).",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:53.202723+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Green List (high evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:53.185208+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:52.854589+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CDKN1B as Green List (high evidence)",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:52.836076+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:48.998592+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: AIP as Green List (high evidence)",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:57:48.976070+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: aip has been classified as Green List (High Evidence).",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:51:25.620575+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHD were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 1, MIM#168000\nReview for gene: SDHD was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:51:14.463215+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHC were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 3, MIM#605373\nReview for gene: SDHC was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:51:04.330648+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHB were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 4, MIM#115310\nReview for gene: SDHB was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:50:54.705431+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: SDHA was added\ngene: SDHA was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHA were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Hereditary pheochromocytoma-paraganglioma, MONDO:0017366; Pheochromocytoma/paraganglioma syndrome 5, MIM#614165\nReview for gene: SDHA was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:50:45.321865+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PRKAR1A was added\ngene: PRKAR1A was added to Pituitary Tumour. 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 Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Carney complex type 1, MONDO:0008057; Carney complex, type 1, MIM#160980\nReview for gene: PRKAR1A was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "PRKAR1A",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:50:36.075498+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 1, MONDO:0007540; Multiple endocrine neoplasia, type 1, MIM#131100\nReview for gene: MEN1 was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:50:27.224894+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDKN1B were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Multiple endocrine neoplasia type 4, MONDO:0012552; Multiple endocrine neoplasia, type 4, MIM#610755\nReview for gene: CDKN1B was set to GREEN\nAdded comment: ClinGen definitive. Pituitary tumour/adenomas reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:49:31.070226+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AIP was added\ngene: AIP was added to Pituitary Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: AIP were set to Pituitary tumor, MONDO:0017611; Pituitary gland adenoma, MONDO:0006373; Pituitary adenoma predisposition, MIM#102200\nReview for gene: AIP was set to GREEN\nAdded comment: Established gene-disease association for pituitary tumour/adenoma.. \nSources: Expert list, Expert Review",
"entity_name": "AIP",
"entity_type": "gene"
},
{
"created": "2024-09-26T12:14:42.847516+10:00",
"panel_name": "Pituitary Tumour",
"panel_id": 4364,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Pituitary Adenoma to Pituitary Tumour",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-26T12:07:47.721299+10:00",
"panel_name": "Pituitary Adenoma",
"panel_id": 4364,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel name changed from Pituitary Tumour to Pituitary Adenoma",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-09-26T11:54:33.414300+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive. Wilms tumour may rarely be associated with a germline DICER1 pathogenic variant. \nSources: Expert list, Expert Review; to: ClinGen definitive. Some evidence for presentation with Wilms tumour in disease.\r\nSources: Expert list, Expert Review",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:52:25.565866+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.39",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PIK3CA was added\ngene: PIK3CA was added to Wilms Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PIK3CA were set to Wilms tumor, MONDO:0006058; PIK3CA-related overgrowth spectrum, MONDO:1040002; PIK3CA-related overgrowth syndrome, multiple MIM#\nMode of pathogenicity for gene: PIK3CA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PIK3CA was set to RED\nAdded comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. GOF and mosaic variants. \nSources: Expert list, Expert Review",
"entity_name": "PIK3CA",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:50:41.647335+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.38",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Wilms Tumour. 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 Wilms tumor, MONDO:0006058; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to RED\nAdded comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. \nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:48:55.542622+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.37",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CDC73 was added\ngene: CDC73 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC73 were set to PMID: 37339334, 7912571, 7717405\nPhenotypes for gene: CDC73 were set to Wilms tumor, MONDO:0006058; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000\nReview for gene: CDC73 was set to RED\nAdded comment: ClinGen definitive. Limited evidence for presentation with Wilms tumour in disease. Three cases of Wilms tumour in unrelated individuals with HPT-JT syndrome. \nSources: Expert list, Expert Review, Literature",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:45:36.055370+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.36",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CTCF was added\ngene: CTCF was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: CTCF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTCF were set to PMID: 31239556, 35459888, 36454652\nPhenotypes for gene: CTCF were set to Wilms tumor, MONDO:0006058; Intellectual developmental disorder, autosomal dominant 21, MIM#615502\nReview for gene: CTCF was set to RED\nAdded comment: Limited evidence for presentation with Wilms tumour in disease. Four cases of Wilms tumour in unrelated individuals with CTCF-related disorder. \nSources: Expert list, Expert Review, Literature",
"entity_name": "CTCF",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:43:42.291530+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.35",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: ASXL1 was added\ngene: ASXL1 was added to Wilms Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ASXL1 were set to Wilms tumor, MONDO:0006058; Bohring-Opitz syndrome, MONDO:0011510; Bohring-Opitz syndrome, MIM#605039\nReview for gene: ASXL1 was set to RED\nAdded comment: Limited evidence for presentation with Wilms tumour in disease. \nSources: Expert list, Expert Review",
"entity_name": "ASXL1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:43:23.936534+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Limited evidence for gene-disease association for Wilms tumour. Four cases of Wilms tumour in unrelated individuals with OSCS. \nSources: Expert list, Expert Review, Literature; to: Limited evidence for presentation with Wilms tumour in disease. Four cases of Wilms tumour in unrelated individuals with OSCS. \r\nSources: Expert list, Expert Review, Literature",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:41:12.070834+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.34",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: AMER1 was added\ngene: AMER1 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: AMER1 were set to PMID: 32879452\nPhenotypes for gene: AMER1 were set to Wilms tumor, MONDO:0006058; Osteopathia striata with cranial sclerosis, MONDO:0010310; Osteopathia striata with cranial sclerosis. MIM#300373\nReview for gene: AMER1 was set to RED\nAdded comment: Limited evidence for gene-disease association for Wilms tumour. Four cases of Wilms tumour in unrelated individuals with OSCS. \nSources: Expert list, Expert Review, Literature",
"entity_name": "AMER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:37:37.391537+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: NYNRIN as Amber List (moderate evidence)",
"entity_name": "NYNRIN",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:37:37.369961+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.33",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: nynrin has been classified as Amber List (Moderate Evidence).",
"entity_name": "NYNRIN",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:37:26.634232+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.32",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: NYNRIN was added\ngene: NYNRIN was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: NYNRIN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NYNRIN were set to PMID: 30885698\nPhenotypes for gene: NYNRIN were set to Wilms tumor, MONDO:0006058; Wilms tumour, no MIM#\nReview for gene: NYNRIN was set to AMBER\nAdded comment: Some evidence for gene-disease association for Wilms tumour. Three cases of biallelic truncating variants associated with sporadic Wilms tumour. \nSources: Expert list, Expert Review, Literature",
"entity_name": "NYNRIN",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:37:02.314248+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Some evidence for gene-disease association for Wilms tumour. Few cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance). \nSources: Expert list, Expert Review, Literature; to: Some evidence for gene-disease association for Wilms tumour. Four cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance). \r\nSources: Expert list, Expert Review, Literature",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:35:57.438246+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: FBXW7 as Amber List (moderate evidence)",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:35:57.420760+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.31",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: fbxw7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:35:47.763580+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. \r\n\r\nPMID: 25099282\r\nInactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. \r\n\r\nPMID: 39293508\r\n1 individual with bilateral Wilms tumour and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. \r\n\r\nPMID: 29292210\r\n3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. \nSources: Expert list, Expert Review, Literature; to: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. \r\n\r\nPMID: 25099282\r\nInactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. \r\n\r\nPMID: 39293508\r\n2 female siblings with Wilms tumour (1 with bilateral Wilms tumour) and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. \r\n\r\nPMID: 29292210\r\n3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. \r\nSources: Expert list, Expert Review, Literature",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:33:35.812146+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.30",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: FBXW7 was added\ngene: FBXW7 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: FBXW7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXW7 were set to PMID: 30885698\nPhenotypes for gene: FBXW7 were set to Wilms tumor, MONDO:0006058; Wilms tumour, no MIM#\nReview for gene: FBXW7 was set to AMBER\nAdded comment: Some evidence for gene-disease association for Wilms tumour. Few cases of monoallelic truncating variants associated with sporadic Wilms tumour (possible incomplete penetrance). \nSources: Expert list, Expert Review, Literature",
"entity_name": "FBXW7",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:32:40.764135+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DICER1 as Amber List (moderate evidence)",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:32:40.737764+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.29",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dicer1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:32:34.613227+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.28",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: DICER1 was added\ngene: DICER1 was added to Wilms Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DICER1 were set to Wilms tumor, MONDO:0006058; DICER1-related tumor predisposition, MONDO:0100216; DICER1 syndrome, MIM#601200\nReview for gene: DICER1 was set to AMBER\nAdded comment: ClinGen definitive. Wilms tumour may rarely be associated with a germline DICER1 pathogenic variant. \nSources: Expert list, Expert Review",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:28:32.742141+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CTR9 as Green List (high evidence)",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:28:32.732073+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.27",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ctr9 has been classified as Green List (High Evidence).",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:28:22.449775+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.26",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CTR9 was added\ngene: CTR9 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: CTR9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTR9 were set to PMID: 25099282, 39293508, 29292210\nPhenotypes for gene: CTR9 were set to Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM#\nReview for gene: CTR9 was set to GREEN\nAdded comment: Evidence for gene-disease association for Wilms tumour. Truncating variants are a rare cause of familial Wilms tumour. \r\n\r\nPMID: 25099282\r\nInactivating CTR9 mutations found in 3 of 35 Wilms tumour families, through exome and Sanger sequencing. All variants were absent in 1,000 population controls and segregated with Wilms tumour in the family with second mutational event present in available tumours. CTR9 is a key component of the polymerase-associated factor 1 complex which has multiple roles in RNA polymerase II regulation and is implicated in embryonic organogenesis and maintenance of embryonic stem cell pluripotency. \r\n\r\nPMID: 39293508\r\n1 individual with bilateral Wilms tumour and a pathogenic splice site variant in the CTR9 gene, leading to deletion of exon 9, and inherited from her asymptomatic father. The loss of heterozygosity in the tumour was confirmed. \r\n\r\nPMID: 29292210\r\n3 affected siblings from 1 family with Wilms tumour (one presenting an aggressive bilateral tumour). They identified a novel CTR9 germline variant, located in a consensus splice acceptor site, which was found to segregate with Wilms tumour in this family. The variant leads to the skipping of the entire exon 9 in the mRNA, which is predicted to encode a truncated CTR9 protein, strongly suggesting that it is pathogenic. They also detected loss of heterozygosity in the index case tumour, which is consistent with CTR9 being a tumour suppressor gene. \nSources: Expert list, Expert Review, Literature",
"entity_name": "CTR9",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:04:48.597109+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRIM28 as Green List (high evidence)",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:04:48.572034+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trim28 has been classified as Green List (High Evidence).",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:04:40.037675+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRIM28 was added\ngene: TRIM28 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: TRIM28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRIM28 were set to PMID: 29912901, 30694527, 30885698, 33565090\nPhenotypes for gene: TRIM28 were set to Wilms tumor, MONDO:0006058; Wilms tumor predisposition, no MIM#\nReview for gene: TRIM28 was set to GREEN\nAdded comment: Evidence for gene-disease association for Wilms tumour.\r\n\r\nAmong 890 individuals with Wilms tumour, a germline TRIM28 pathogenic variant was identified in 21 affected individuals. Age of onset ranged from 5 months to 9 years. TRIM28-related Wilms tumours can be either unilateral or bilateral, predominantly have epithelial-type histology, and are frequently accompanied by nephrogenic rests. Immunohistochemistry studies show negative staining for TRIM28. With few exceptions, the reported germline variants are truncating or splice site variants located throughout the protein coding regions with evidence suggestive of a maternal parent-of-origin effect. Germline TRIM28 pathogenic variants do not appear to be associated with any phenotype other than Wilms tumour. \nSources: Expert list, Expert Review, Literature",
"entity_name": "TRIM28",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:01:30.985111+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: REST as Green List (high evidence)",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:01:30.957552+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rest has been classified as Green List (High Evidence).",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2024-09-26T11:01:25.638575+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: REST was added\ngene: REST was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REST were set to PMID: 26551668\nPhenotypes for gene: REST were set to Wilms tumor, MONDO:0006058; Wilms tumor 6, MONDO:0014779; Wilms tumor 6, susceptibility to, MIM#616806\nReview for gene: REST was set to GREEN\nAdded comment: Evidence for gene-disease association for Wilms tumour. \r\n\r\n11 different inactivating mutations in the REST gene in 4 familial Wilms tumor pedigrees and 9 non-familial cases. All variants were absent from ICR1000 control series and ExAC series. A second mutational event was found in two tumors, suggesting that REST may act as a tumor-suppressor gene in Wilms tumor pathogenesis. Ten of 11 mutations clustered within the portion of REST encoding the DNA-binding domain, and functional analyses showed that these mutations compromise REST transcriptional repression. \nSources: Expert list, Expert Review, Literature",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:57:39.726931+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRIP13 as Green List (high evidence)",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:57:39.711794+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.21",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trip13 has been classified as Green List (High Evidence).",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:57:33.834926+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Wilms Tumour. Sources: Expert list,Expert Review,Literature\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIP13 were set to PMID: 28553959\nPhenotypes for gene: TRIP13 were set to Wilms tumor, MONDO:0006058; Mosaic variegated aneuploidy syndrome 3, MONDO:0054736; Mosaic variegated aneuploidy syndrome 3, MIM#617598\nReview for gene: TRIP13 was set to GREEN\nAdded comment: Wilms tumour reported in condition.\r\n\r\n6 unrelated patients with MVA3 with early-onset Wilms tumour, and homozygous truncating mutations in the TRIP13 gene. Cells derived from patients with the R354X mutation showed chromosomal instability, including aneuploidy, premature chromatid separation, lagging chromosomes, and chromosome bridges. Mutant cells showed increased mitotic exit and impaired recruitment of MAD2 to unattached kinetochores, indicating severe disruption of the spindle assembly checkpoint. These defects could be restored with wildtype TRIP13. The mutant protein was unable to rescue spindle assembly checkpoint defects in a cell line with CRISPR-Cas9-mediated knockdown of TRIP13, consistent with a loss of function. \nSources: Expert list, Expert Review, Literature",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:53:54.617596+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHR were changed from ?Retinitis pigmentosa 85 MIM#618345; foveal hypoplasia and infantile nystagmus to Retinitis pigmentosa 85 MIM#618345; Foveal hypoplasia 3, MIM# 620958",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:53:19.088561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AHR: Changed phenotypes: Foveal hypoplasia 3, MIM# 620958",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:58.469894+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AHR were changed from Foveal hypoplasia without albinism; Infantile nystagmus to Foveal hypoplasia 3, MIM#\t620958",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:41.092867+10:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AHR: Changed phenotypes: Foveal hypoplasia 3, MIM# 620958",
"entity_name": "AHR",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:10.098867+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BLM as Green List (high evidence)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:10.080707+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: blm has been classified as Green List (High Evidence).",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:05.938408+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA2 as Green List (high evidence)",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:05.922753+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.18",
"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": "2024-09-26T10:52:02.103516+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BUB1B as Green List (high evidence)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:52:02.047153+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: bub1b has been classified as Green List (High Evidence).",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:57.246178+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CDKN1C as Green List (high evidence)",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:57.226903+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cdkn1c has been classified as Green List (High Evidence).",
"entity_name": "CDKN1C",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:52.830228+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: DIS3L2 as Green List (high evidence)",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:52.817609+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: dis3l2 has been classified as Green List (High Evidence).",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:48.839853+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: GPC3 as Green List (high evidence)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:48.823496+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: gpc3 has been classified as Green List (High Evidence).",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:44.367265+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PALB2 as Green List (high evidence)",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:44.344342+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.13",
"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": "2024-09-26T10:51:40.256416+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TRIM37 as Green List (high evidence)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:40.231859+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Green List (High Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:35.752627+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:34.683655+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: WT1 as Green List (high evidence)",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:34.650797+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:28.665085+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Wilms Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: WT1 were set to Wilms tumor, MONDO:0006058; Wilms tumor 1, MONDO:0008679; Wilms tumor, type 1, MIM#194070; Denys-Drash syndrome, MIM#194080; Frasier syndrome, MIM#136680\nReview for gene: WT1 was set to GREEN\nAdded comment: ClinGen definitive. Wilms tumour reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:16.555363+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSTPIP1: Changed phenotypes: Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416, Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:51:03.680083+10:00",
"panel_name": "Wilms Tumour",
"panel_id": 4366,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Wilms Tumour. Sources: Expert list,Expert Review\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Wilms tumor, MONDO:0006058; Mulibrey nanism, MONDO:0009664; Mulibrey nanism, MIM#253250\nReview for gene: TRIM37 was set to GREEN\nAdded comment: ClinGen definitive. Wilms tumour reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2024-09-26T10:50:50.380080+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSTPIP1 were changed from Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome to Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416; PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome",
"entity_name": "PSTPIP1",
"entity_type": "gene"
}
]
}