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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=385",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=383",
"results": [
{
"created": "2024-09-24T20:54:57.755962+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6227",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ELOVL4 were set to ",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:54:23.127033+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6226",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELOVL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:52:36.390377+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: EIF2AK3 as ready",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:52:36.348838+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: eif2ak3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:52:26.056256+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6225",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EIF2AK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:51:42.384005+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6224",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EIF2AK3 were set to ",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:43:31.489874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6223",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: DIAPH1 were set to 24781755; 26463574",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-09-24T20:42:47.481699+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39076976, 24781755, 26463574, 33662367; Phenotypes: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DIAPH1",
"entity_type": "gene"
},
{
"created": "2024-09-24T14:46:48.495240+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31436889, 31707899, 20118933, 23224214, 29243230, 2578773, 27066567; Phenotypes: Ataxia-oculomotor apraxia 4, Microcephaly, seizures, and developmental delay, Charcot-Marie-Tooth disease, type 2B2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-09-24T14:44:22.802448+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2016",
"user_name": "Shakira Heerah",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-09-23T14:46:02.560410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2016",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RPS6KB1 as Amber List (moderate evidence)",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-09-23T14:46:02.555237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2016",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Comment on list classification: ClinGen HCVD GCEP has classified this gene as Limited for HCM on 13/09/2023 - https://search.clinicalgenome.org/CCID:006034",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-09-23T14:46:02.493423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2016",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rps6kb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RPS6KB1",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:39:13.124557+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: LARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Infantile liver failure syndrome 1, MIM# 615438; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:34:15.955483+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 3, with or without intracellular inclusions MIM#611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KCTD7",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:32:43.289329+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: HPS5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hermansky-Pudlak syndrome 5 MIM#614074; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:30:01.626685+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: HLCS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Holocarboxylase synthetase deficiency MIM#253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:28:47.148917+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: HADHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial trifunctional protein deficiency 2 MIM#620300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:26:17.596109+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GSS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutathione synthetase deficiency MIM#266130; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:17:39.345526+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucolipidosis III alpha/beta MIM#252600, Mucolipidosis II alpha/beta MIM#252500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:13:06.977206+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:10:53.685781+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital MIM#202400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGB",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:07:38.548477+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Afibrinogenemia, congenital (MIM#202400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:07:19.489418+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2024-09-20T16:04:57.864191+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.322",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FGA: Rating: GREEN; Mode of pathogenicity: None; Publications: Afibrinogenemia, congenital (MIM#202400); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FGA",
"entity_type": "gene"
},
{
"created": "2024-09-20T15:52:36.124415+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 24507776, 27185855, 28815563, 29633571; Phenotypes: pancytopenia-developmental delay syndrome MONDO:0014317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC6L2",
"entity_type": "gene"
},
{
"created": "2024-09-20T14:56:53.959927+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301571; Phenotypes: xeroderma pigmentosum group B MONDO:0012531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC3",
"entity_type": "gene"
},
{
"created": "2024-09-20T14:38:52.541740+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301571; Phenotypes: xeroderma pigmentosum group D MONDO:0010212, trichothiodystrophy 1, photosensitive MONDO:0011125, cerebrooculofacioskeletal syndrome 2 MONDO:0012553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ERCC2",
"entity_type": "gene"
},
{
"created": "2024-09-20T11:48:40.987062+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "changed review comment from: EP300 is definitively associated with autosomal dominant Rubinstein-Taybi syndrome. Rubinstein-Taybi syndrome is characterized by distinctive facial features, broad and angulated thumbs and halluces, short stature, and intellectual disability (https://search.clinicalgenome.org/CCID:004751). \r\n\r\nMechanism of disease: loss of function; to: EP300 is definitively associated with autosomal dominant Rubinstein-Taybi syndrome. Rubinstein-Taybi syndrome is characterized by distinctive facial features, broad and angulated thumbs and halluces, short stature and intellectual disability (https://search.clinicalgenome.org/CCID:004751). \r\n\r\nMechanism of disease: loss of function",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-20T11:48:31.452058+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: EP300: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Rubinstein-Taybi syndrome MONDO:0019188; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-09-20T11:36:13.175318+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6222",
"user_name": "Ken Lee Wan",
"item_type": "entity",
"text": "reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 37592902; Phenotypes: congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2024-09-19T10:37:23.376516+10:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.86",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: RSPO4 was added\ngene: RSPO4 was added to Ectodermal Dysplasia. Sources: Literature\nMode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RSPO4 were set to 17041604; 17914448; 18070203\nPhenotypes for gene: RSPO4 were set to Anonychia congenita MIM# 206800\nReview for gene: RSPO4 was set to GREEN\ngene: RSPO4 was marked as current diagnostic\nAdded comment: Congenital anonychia is defined as the absence of fingernails and toenails. Anonychia and its milder phenotypic variant, hyponychia, usually occur as a feature of genetic syndromes, in association with significant skeletal and limb anomalies. Isolated nonsyndromic congenital anonychia/hyponychia is a rare entity that usually follows autosomal recessive inheritance with variable expression, even within a given family. The nail phenotypes observed range from no nail field to a nail field of reduced size with an absent or rudimentary nail (summary by Bruchle et al., 2008). This form of nail disorder is referred to here as nonsyndromic congenital nail disorder-4 (NDNC4).\r\n\r\nMultiple families with homozygous or compound heterozygous variants, in consanguineous and non-consanguineous families. \nSources: Literature",
"entity_name": "RSPO4",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:48:07.897942+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "changed review comment from: ClinGen definitive. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review; to: ClinGen definitive. Ovarian cancers 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 (PMID: 36040522).\r\n\r\nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:47.191299+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TP53 as Green List (high evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:47.173367+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.24",
"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": "2024-09-19T09:47:41.392239+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAD51D as Green List (high evidence)",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:41.375788+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rad51d has been classified as Green List (High Evidence).",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:35.932427+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RAD51C as Green List (high evidence)",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:35.918460+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.22",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rad51c has been classified as Green List (High Evidence).",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:32.011971+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"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": "2024-09-19T09:47:31.982736+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"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": "2024-09-19T09:47:28.005342+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EPCAM as Green List (high evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:27.983870+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.20",
"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": "2024-09-19T09:47:22.984832+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRIP1 as Green List (high evidence)",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:22.968560+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: brip1 has been classified as Green List (High Evidence).",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:18.485750+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"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": "2024-09-19T09:47:18.473692+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"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": "2024-09-19T09:47:14.016758+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:13.985318+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.17",
"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": "2024-09-19T09:47:09.998682+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:47:00.535780+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RAD51D was added\ngene: RAD51D was added to Ovarian Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: RAD51D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD51D were set to Ovarian cancer, MONDO:0008170; RAD51D-related cancer predisposition, MONDO:0700274; Breast-ovarian cancer, familial, susceptibility to, 4, MONDO:0013669; Breast-ovarian cancer, familial, susceptibility to, 4, MIM#614291\nReview for gene: RAD51D was set to GREEN\nAdded comment: ClinGen definitive. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:46:52.481358+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RAD51C was added\ngene: RAD51C was added to Ovarian Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: RAD51C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RAD51C were set to Ovarian cancer, MONDO:0008170; RAD51C-related cancer predisposition, MONDO:0700273; Breast-ovarian cancer, familial, susceptibility to, 3, MONDO:0013253; Breast-ovarian cancer, familial, susceptibility to, 3, MIM#613399\nReview for gene: RAD51C was set to GREEN\nAdded comment: ClinGen definitive. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "RAD51C",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:46:38.875194+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:46:13.827971+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Ovarian 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 Ovarian cancer, MONDO:0008170; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Ovarian cancers 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": "2024-09-19T09:45:59.086997+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRIP1 was added\ngene: BRIP1 was added to Ovarian Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: BRIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRIP1 were set to Ovarian cancer, MONDO:0008170\nReview for gene: BRIP1 was set to GREEN\nAdded comment: ClinGen definitive. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRIP1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:45:48.642894+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA2 was added\ngene: BRCA2 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:45:37.883237+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:43:37.856719+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PMS2 as Green List (high evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:43:37.845008+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.8",
"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": "2024-09-19T09:43:34.123956+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:43:34.109213+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.7",
"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": "2024-09-19T09:43:29.695317+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:43:29.682783+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.6",
"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": "2024-09-19T09:43:25.451521+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:43:25.430032+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.5",
"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": "2024-09-19T09:43:15.870519+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers 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": "2024-09-19T09:43:02.909638+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:42:51.439710+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:42:35.795123+10:00",
"panel_name": "Ovarian Cancer",
"panel_id": 4374,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Ovarian 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 Ovarian cancer, MONDO:0008170; 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. Ovarian cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:55.925033+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POLE as Green List (high evidence)",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:55.904647+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.20",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pole has been classified as Green List (High Evidence).",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:51.120085+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: POLD1 as Green List (high evidence)",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:51.088495+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.19",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pold1 has been classified as Green List (High Evidence).",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:47.209595+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.18",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: TP53 as Green List (high evidence)",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:47.193461+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.18",
"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": "2024-09-19T09:22:43.171229+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PTEN as Green List (high evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:43.137850+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.17",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pten has been classified as Green List (High Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:38.395653+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EPCAM as Green List (high evidence)",
"entity_name": "EPCAM",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:38.383753+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.16",
"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": "2024-09-19T09:22:34.692859+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: BRCA1 as Green List (high evidence)",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:34.671433+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.15",
"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": "2024-09-19T09:22:29.673041+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PMS2 as Green List (high evidence)",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:29.652350+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.14",
"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": "2024-09-19T09:22:25.453738+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.13",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH6 as Green List (high evidence)",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:25.438774+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.13",
"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": "2024-09-19T09:22:20.822059+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MSH2 as Green List (high evidence)",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:20.797666+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.12",
"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": "2024-09-19T09:22:16.940207+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: MLH1 as Green List (high evidence)",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:22:16.922300+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.11",
"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": "2024-09-19T09:22:07.898107+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POLE was added\ngene: POLE was added to Endometrial Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: POLE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLE were set to Endometrial cancer, MONDO:0011962; POLE-related polyposis and colorectal cancer syndrome, MONDO:0100287; POLE-associated polyposis, MIM#615083\nMode of pathogenicity for gene: POLE 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: POLE was set to GREEN\nAdded comment: ClinGen definitive. Endometrial cancers reported in condition. GOF variants. \nSources: Expert list, Expert Review",
"entity_name": "POLE",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:21:53.022364+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: POLD1 was added\ngene: POLD1 was added to Endometrial Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: POLD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: POLD1 were set to Endometrial cancer, MONDO:0011962; POLD1-related polyposis and colorectal cancer syndrome, MONDO:0100351; POLD1-associated polyposis, MIM#612591\nMode of pathogenicity for gene: POLD1 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: POLD1 was set to GREEN\nAdded comment: ClinGen definitive. Endometrial cancers reported in condition. GOF variants. \nSources: Expert list, Expert Review",
"entity_name": "POLD1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:21:18.036918+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.8",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; Li-Fraumeni syndrome, MONDO:0018875; Li-Fraumeni syndrome, MIM#151623\nReview for gene: TP53 was set to GREEN\nAdded comment: ClinGen definitive. Endometrial cancers 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 (PMID: 36040522). \nSources: Expert list, Expert Review",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:21:01.430503+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.7",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Endometrial Cancer. Sources: Expert list,Expert Review\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTEN were set to Endometrial cancer, MONDO:0011962; PTEN hamartoma tumor syndrome, MONDO:0017623; PTEN hamartoma tumour syndromes, MIM#158350\nReview for gene: PTEN was set to GREEN\nAdded comment: ClinGen definitive. Endometrial cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:20:38.089502+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.6",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EPCAM was added\ngene: EPCAM was added to Endometrial 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 Endometrial cancer, MONDO:0011962; Lynch syndrome 8, MONDO:0013196; Lynch syndrome 8, MIM#613244\nReview for gene: EPCAM was set to GREEN\nAdded comment: ClinGen definitive. Endometrial cancers 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": "2024-09-19T09:20:22.029873+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.5",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: BRCA1 was added\ngene: BRCA1 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:20:02.652848+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.4",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers 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": "2024-09-19T09:19:44.177588+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.3",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:19:33.389292+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.2",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:19:22.884574+10:00",
"panel_name": "Endometrial Cancer",
"panel_id": 4373,
"panel_version": "0.1",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Endometrial 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 Endometrial cancer, MONDO:0011962; 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. Endometrial cancers reported in condition. \nSources: Expert list, Expert Review",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2024-09-19T09:07:00.214301+10:00",
"panel_name": "Prostate Cancer",
"panel_id": 4372,
"panel_version": "0.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: HOXB13 as Green List (high evidence)",
"entity_name": "HOXB13",
"entity_type": "gene"
}
]
}