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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1321",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1319",
"results": [
{
"created": "2021-05-19T16:11:51.462544+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYLD as Amber List (moderate evidence)",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2021-05-19T16:11:51.448063+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.120",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyld has been classified as Amber List (Moderate Evidence).",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2021-05-19T11:59:16.774372+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.10",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: DKC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25940403; Phenotypes: X-linked dyskeratosis congenita (MIM#305000), Hoyeraal-Hreidarsson Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:20:27.015091+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-05-18T19:19:48.370946+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCL as ready",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:19:48.357442+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcl has been classified as Green List (High Evidence).",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:19:43.127413+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:19:19.103903+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VCL were set to ",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:18:50.919081+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:18:21.741172+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:14:54.798367+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM1 as ready",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:14:54.789167+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm1 has been classified as Green List (High Evidence).",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:14:51.887876+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:14:27.675539+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPM1 were set to ",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:14:04.072792+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:13:37.113486+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TPM1.",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T19:13:29.553590+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11273725, 23147248, 20117437, 15249230, 20215591, 21483645, 31983221, 28600229; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: None",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:51:53.892259+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: NEXN.",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:51:34.918721+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TNNI3.",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:51:16.669921+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI3 were changed from ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369 to Cardiomyopathy, dilated, 1FF, MIM#613286",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:50:58.275799+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNI3 were set to 15607392",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:50:35.365062+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:50:09.643827+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:46:22.197236+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEXN as ready",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:46:22.184856+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nexn has been classified as Green List (High Evidence).",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:46:18.339049+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEXN were changed from to Cardiomyopathy, dilated, 1CC, MIM# 613122",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:45:39.413093+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NEXN were set to ",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:40:50.743384+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NEXN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:40:26.699499+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472, 26659360; Phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:36:35.644855+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JPH2 were set to PMID: 31227780",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:36:07.055449+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:35:41.169783+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Amber List (moderate evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:35:41.159656+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:35:18.299903+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Gene is also associated with HCM.\r\n\r\nMultiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; to: Gene is also associated with HCM.\r\n\r\nSeveral families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.\r\n\r\nMODERATE by ClinGen.",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:34:55.851025+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: JPH2: Added comment: Gene is also associated with HCM.\r\n\r\nMultiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; Changed rating: AMBER; Changed publications: 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:25:15.193765+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from Congenital disorder of glycosylation to Congenital disorder of glycosylation type II",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:24:39.244804+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC37A4 were set to 32884905",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:24:09.331696+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC37A4 as Amber List (moderate evidence)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T18:24:09.319863+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T17:09:27.241526+10:00",
"panel_name": "Motor Neurone Disease",
"panel_id": 25,
"panel_version": "0.119",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYLD was added\ngene: CYLD was added to Motor Neurone Disease. Sources: Literature\nMode of inheritance for gene: CYLD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYLD were set to 32666117; 32666099; 32185393\nPhenotypes for gene: CYLD were set to Frontotemporal dementia and/or amytrophic lateral sclerosis 8, MIM# 619132\nMode of pathogenicity for gene: CYLD was set to Other\nReview for gene: CYLD was set to AMBER\nAdded comment: Original study (PMID: 32185393) identified a gain of function missense segregating 7 FTD cases (1 also with ALS) and 1 ALS case in an Australian family, that has a previously identified linkage peak in this region. Extensive genomic studies were conducted to exclude structural variation and repeats as causes. Supporting immunohistochemical evidence in brain tissue and extensive in vitro assays on the missense variant (M719V), showing a different mechanism of disease to loss of function that is associated with cutaneous phenotypes. Also, demonstrated a significant enrichment of rare missense variants in the deubiquitinase domain of CYLD (amino acids 593–948) in an FTD cohort, but not an ALS cohort. A subsequent Portuguese FTD study has identified two missense VUS in 2 FTD cases. Segregation studies or functional studies were not conducted (PMID: 32666117). \nSources: Literature",
"entity_name": "CYLD",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:51:59.032960+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.9",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: AMBER; Mode of pathogenicity: None; Publications: 33728255; Phenotypes: Congenital disorder of glycosylation type II; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:06:56.714172+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:06:56.703831+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:06:54.164405+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:06:30.376451+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTC1 were set to ",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:06:01.344261+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:05:38.185166+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ACTC1.",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:05:27.600379+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:01:13.932858+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:01:13.921859+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:01:11.757675+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:00:48.180559+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSP were set to ",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T14:00:19.081611+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:59:54.375117+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 24108106; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:52:04.355028+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTN were set to 22335739; 25589632; 28045975",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:51:35.476574+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TTN: Added comment: DEFINITIVE by ClinGen.; Changed publications: 22335739, 33947203",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:50:51.817906+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNT2 as ready",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:50:51.806210+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnt2 has been classified as Green List (High Evidence).",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:50:49.217408+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:50:19.231508+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNT2 were set to ",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:49:29.221391+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:48:58.511431+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:37:48.998980+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNC1 as ready",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:37:48.987256+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Green List (High Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:37:46.233289+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TNNC1 were set to ",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:37:19.677743+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; MONDO:0012745",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:36:55.719566+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:36:17.193043+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:29:06.267033+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM20 were set to 30871351",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:28:33.154674+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:27:59.472431+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLN as ready",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:27:59.461620+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pln has been classified as Green List (High Evidence).",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:27:56.636393+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:27:26.068136+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLN were set to ",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:27:00.329083+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:26:30.056851+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:24:33.176486+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYH7 as ready",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:24:33.167027+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myh7 has been classified as Green List (High Evidence).",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:24:30.797344+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:24:06.811610+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYH7 were set to ",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:23:36.552700+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:23:10.977638+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262; Mode of inheritance: None",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:19:55.378800+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMNA were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:19:29.334166+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMNA were set to ",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:18:56.091118+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMNA: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 33947203; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:18:09.619391+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:17:35.063140+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLNC",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:16:39.436446+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DES as ready",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:16:39.424423+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: des has been classified as Green List (High Evidence).",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:16:36.647096+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; MONDO:0011482",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:15:16.468066+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DES were set to ",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:14:52.293838+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DES was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:14:20.729890+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, MONDO:0011482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DES",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:10:43.748104+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BAG3 as ready",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:10:43.734648+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bag3 has been classified as Green List (High Evidence).",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:10:41.673469+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:10:17.686087+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BAG3 were set to ",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:09:47.853603+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:09:23.618059+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BAG3: Changed phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, MONDO:0013479",
"entity_name": "BAG3",
"entity_type": "gene"
},
{
"created": "2021-05-18T13:08:53.243796+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BAG3",
"entity_type": "gene"
}
]
}