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{
"count": 220918,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=711",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=709",
"results": [
{
"created": "2022-10-19T17:39:17.171565+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nIndividuals are asymptomatic unless exposed to triggering agents.\r\n\r\nConsider as a separate pharmacogenomic offering?\r\n\r\nFor review.; to: Well established gene-disease association.\r\n\r\nIndividuals are asymptomatic unless exposed to triggering agents.\r\n\r\nConsider as a separate pharmacogenomic offering?\r\n\r\nGroup review: preventative intervention available by placing alerts in medical records.",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:38:31.334510+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCHE: Changed rating: GREEN",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:35:27.068592+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP7B.",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:35:16.204566+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ATP7B: Group discussion: acute liver failure can be fatal, and the disorder is treatable.",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:34:17.066654+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP7B: Changed rating: GREEN",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:31:42.020152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP7A.",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:29:11.171511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP6V1B1.",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:28:08.734677+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ATP6V0A4.",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:23:01.903819+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AMN.",
"entity_name": "AMN",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:22:21.161916+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AKR1D1.",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:21:44.766033+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AIRE.",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:20:13.105421+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AGXT.",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:19:16.338410+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: ABCD1.",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:12:17.018153+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.\r\n\r\nHowever, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. \r\n\r\nThere are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.; to: Well established gene-disease association.\r\n\r\nSevere disorder with onset in infancy, can be fatal.\r\n\r\nTreatment available: etidronate.\r\n\r\nHowever, note excluded by other screening programs as severity difficult to predict from genotype and gene is also associated with PXE, a milder disorder. However, imaging may be able to determine severity.\r\n\r\nThere are also technical concerns due to 2x pseudogenes which cause mapping/variant calling issues in exons 1-9.",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2022-10-19T17:09:58.114672+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review was removed from gene: AAAS.",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2022-10-19T15:21:54.645145+11:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-19T13:27:31.227306+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDK5RAP2 as ready",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-10-19T13:27:31.206273+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-10-19T13:27:22.837564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5RAP2 as Red List (low evidence)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-10-19T13:27:22.828104+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5rap2 has been classified as Red List (Low Evidence).",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-10-19T13:27:09.185446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDK5RAP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, MIM# 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-10-19T12:22:30.895255+11:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "List of related panels changed from to Albinism HP:0001022",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-19T11:06:18.241575+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-10-19T07:01:35.956943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC34 as ready",
"entity_name": "CCDC34",
"entity_type": "gene"
},
{
"created": "2022-10-19T07:01:35.948516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc34 has been classified as Green List (High Evidence).",
"entity_name": "CCDC34",
"entity_type": "gene"
},
{
"created": "2022-10-19T07:01:23.589977+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC34 as Green List (high evidence)",
"entity_name": "CCDC34",
"entity_type": "gene"
},
{
"created": "2022-10-19T07:01:23.580319+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.416",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc34 has been classified as Green List (High Evidence).",
"entity_name": "CCDC34",
"entity_type": "gene"
},
{
"created": "2022-10-19T07:01:04.888925+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.415",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC34 was added\ngene: CCDC34 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CCDC34 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC34 were set to 34348960\nPhenotypes for gene: CCDC34 were set to Spermatogenic failure 76, MIM#\t620084\nReview for gene: CCDC34 was set to GREEN\nAdded comment: Two unrelated individuals reported with homozygous frameshift variants. Mouse model recapitulated phenotype. \nSources: Expert list",
"entity_name": "CCDC34",
"entity_type": "gene"
},
{
"created": "2022-10-18T20:11:41.575651+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLAD1 as ready",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-18T20:11:41.542196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flad1 has been classified as Green List (High Evidence).",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-18T20:11:31.904170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLAD1 were set to ",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-18T20:11:14.064842+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: FLAD1.\nTag treatable tag was added to gene: FLAD1.",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-18T20:11:00.213130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31392824; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-18T18:08:27.893064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.414",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17097056, 20022194, 25173926, 25224718, 22767232, 27287556, 28436997, 31333075, 31956495, 32973354, 34802252, 33500567, 36078153, 36116040; Phenotypes: intrinsic cardiomyopathy MONDO:0000591; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTN2",
"entity_type": "gene"
},
{
"created": "2022-10-18T14:29:52.254173+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19790256; Phenotypes: hypoglycaemia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GCK",
"entity_type": "gene"
},
{
"created": "2022-10-18T14:21:32.868840+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25356975; Phenotypes: hypoglycaemia, IUGR, hepatomegaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC",
"entity_type": "gene"
},
{
"created": "2022-10-18T14:14:54.204103+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33266441; Phenotypes: neurodegneration, coarse facial features, grow retardation, dysostosis multiplex, angiokeratomata, recurrent URTIs; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2022-10-18T14:03:12.163185+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "John Christodoulou",
"item_type": "entity",
"text": "reviewed gene: FLAD1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 30680745; Phenotypes: lactic acidosis, respiratory insufficiency, cardiomyopathy, skeletal myopathy, hypotonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:51.912146+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC40 as ready",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:51.902894+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:48.839573+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC40 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 15, MIM#613808",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:29.639132+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC40 as Red List (low evidence)",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:29.630307+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc40 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:57:18.674826+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC40: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 15, MIM#613808; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:56:01.858410+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CCDC39 as ready",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:56:01.847370+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:55:57.868748+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC39 were changed from Primary ciliary dyskinesia to Ciliary dyskinesia, primary, 14, MIM# 613807",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:55:45.681031+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CCDC39 as Red List (low evidence)",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:55:45.670149+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ccdc39 has been classified as Red List (Low Evidence).",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:55:34.708776+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CCDC39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 14, MIM# 613807; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:54:19.737212+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:54:19.727686+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Red List (Low Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:54:16.623014+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome to Joubert syndrome 9, MIM# 612285; Meckel syndrome 6, MIM# 612284; COACH syndrome 2, MIM# 619111",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:54:01.623192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CC2D2A as Red List (low evidence)",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:54:01.609339+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Red List (Low Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:53:51.522087+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 9, MIM# 612285, Meckel syndrome 6, MIM# 612284, COACH syndrome 2, MIM# 619111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:52:11.317052+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:51:57.260073+11:00",
"panel_name": "Lipodystrophy_Lipoatrophy",
"panel_id": 130,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:51:44.533522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAVIN1 as ready",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:51:44.522902+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cavin1 has been classified as Green List (High Evidence).",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:51:39.054566+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:50:24.723749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:49:44.314456+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAVIN1 were changed from Lipodystrophy, congenital generalized, type 4 to Lipodystrophy, congenital generalized, type 4, MIM# 613327",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:49:29.144267+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAVIN1 were set to ",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:49:17.740798+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: CAVIN1.",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:49:08.190094+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAVIN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19726876, 20300641, 20684003, 18840361; Phenotypes: Lipodystrophy, congenital generalized, type 4, MIM# 613327; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:30.341629+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV3 as ready",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:30.332325+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Red List (Low Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:27.013202+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAV3 were changed from Caveolinopathy; Muscular dystrophy, limb-girdle, type IC to Myopathy, distal, Tateyama type MIM#614321; Rippling muscle disease 2 MIM#606072; Creatine phosphokinase, elevated serum MIM#123320",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:14.232345+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAV3 as Red List (low evidence)",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:14.222059+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav3 has been classified as Red List (Low Evidence).",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:38:01.198328+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAV3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, distal, Tateyama type MIM#614321, Rippling muscle disease 2 MIM#606072, Creatine phosphokinase, elevated serum MIM#123320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAV3",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:06:29.946634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.414",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:06:06.880710+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.413",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFAT5 were set to 25667416",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:05:42.389433+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFAT5 as Amber List (moderate evidence)",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:05:42.381847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.412",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfat5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:05:24.877149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NFAT5: Added comment: Two additional individuals with missense variants reported in PMID 36238298: one with EBV infection with hepatitis and enterocolitis, and one with fatal HLH.; Changed rating: AMBER; Changed publications: 25667416, 36238298; Changed phenotypes: Immune deficiency disease, MONDO:0003778, NFAT5-related, Recurrent infections, Autoimmune enterocolopathy, EBV susceptibility, HLH",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:04:00.532304+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFAT5 were changed from Recurrent infections; Autoimmune enterocolopathy to Immune deficiency disease, MONDO:0003778, NFAT5-related; Recurrent infections; Autoimmune enterocolopathy; EBV susceptibility; HLH",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:02:14.521076+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFAT5 were set to 25667416",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:01:38.730434+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFAT5 as Amber List (moderate evidence)",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T18:01:38.721624+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfat5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T17:59:24.169265+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG1 as ready",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2022-10-17T17:59:24.158040+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog1 has been classified as Red List (Low Evidence).",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2022-10-17T17:59:19.395041+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COG1 as Red List (low evidence)",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2022-10-17T17:59:19.385243+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog1 has been classified as Red List (Low Evidence).",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2022-10-17T16:00:54.121278+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.157",
"user_name": "Peter McNaughton",
"item_type": "entity",
"text": "reviewed gene: NFAT5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36238298; Phenotypes: EBV susceptibility, HLH; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2022-10-17T10:48:25.822124+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.142",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: COG1 was added\ngene: COG1 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature\nMode of inheritance for gene: COG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COG1 were set to 16537452; 19008299; 17904886; 11980916; 18462449\nPhenotypes for gene: COG1 were set to Congenital disorder of glycosylation, type IIg - MIM#611209\nReview for gene: COG1 was set to AMBER\nAdded comment: IUGR known feature - but disproportionate impact on length and rhizomelia only reported in the literature in early infancy rather than prenatally. \nSources: Expert list, Literature",
"entity_name": "COG1",
"entity_type": "gene"
},
{
"created": "2022-10-16T18:04:47.584900+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"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": "2022-10-16T07:16:13.150572+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4999",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC1 were changed from spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes; Syndromic disease MONDO:0002254, PSMC1-related to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-10-16T07:15:39.114982+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4998",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSMC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-10-16T07:15:12.739722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.411",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSMC1 were changed from 35861243; spastic paraplegia; severe developmental delay; severe intellectual disability; hearing loss; micropenis; undescended testes to Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-10-16T07:14:45.475717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.410",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PSMC1: Changed phenotypes: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss , MIM# 620071",
"entity_name": "PSMC1",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:22.834709+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC2A10 as ready",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:22.796007+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc2a10 has been classified as Green List (High Evidence).",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:20.091324+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC2A10 were set to ",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:08.277898+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:08.267122+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:02:05.309519+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RIN2 were set to ",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:01:52.533826+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PYCR1 as ready",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2022-10-15T19:01:52.523128+11:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pycr1 has been classified as Green List (High Evidence).",
"entity_name": "PYCR1",
"entity_type": "gene"
}
]
}