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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1904",
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"results": [
{
"created": "2020-03-16T20:01:49.362302+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA6B as Green List (high evidence)",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T20:01:49.352903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1707",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema6b has been classified as Green List (High Evidence).",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T20:01:26.775702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1706",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA6B was added\ngene: SEMA6B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA6B were set to 32169168\nPhenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy\nMode of pathogenicity for gene: SEMA6B was set to Other\nReview for gene: SEMA6B was set to GREEN\nAdded comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD. \nSources: Literature",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T20:01:10.100380+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA6B as ready",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T20:01:10.091872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema6b has been classified as Green List (High Evidence).",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T19:59:41.428554+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA6B as Green List (high evidence)",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T19:59:41.415894+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema6b has been classified as Green List (High Evidence).",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-16T19:59:13.249071+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEMA6B was added\ngene: SEMA6B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SEMA6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SEMA6B were set to 32169168\nPhenotypes for gene: SEMA6B were set to Progressive myoclonic epilepsy\nMode of pathogenicity for gene: SEMA6B was set to Other\nReview for gene: SEMA6B was set to GREEN\nAdded comment: Five individuals from unrelated families reported with de novo variants in the last exon, escaping NMD. \nSources: Literature",
"entity_name": "SEMA6B",
"entity_type": "gene"
},
{
"created": "2020-03-14T15:00:06.656986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1705",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:59:42.580250+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:59:42.571644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1704",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:59:24.676663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants and BBS phenotype reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:58:45.771236+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:58:45.758153+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:58:17.153489+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed rating: GREEN; Changed publications: 27486776, 32144365",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:57:43.838106+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:57:12.195557+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFT74 as Green List (high evidence)",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:57:12.187056+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:56:44.064781+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Changed rating: GREEN",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:56:14.609664+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family plus functional data. \nSources: Expert list; to: Single family plus functional data (zebrafish model consistent with ciliopathy). \r\nSources: Expert list",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:54:39.911569+11:00",
"panel_name": "Bardet Biedl syndrome",
"panel_id": 53,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported.; Changed publications: 27486776, 32144365",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:53:56.273858+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT74 were set to 27486776",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:53:21.437388+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Added comment: Second individual with bi-allelic variants reported. However, neither had renal disease.; Changed publications: 27486776, 32144365",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:47:41.080566+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMTA1 as ready",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:47:41.067632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Green List (High Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:47:33.634584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1703",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:47:19.544632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1702",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMTA1 were set to ",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:46:49.193922+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1701",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:46:35.641749+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CAMTA1.",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:46:17.836384+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:42:33.403943+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAMTA1 as ready",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:42:33.390637+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:42:28.304745+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.89",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CAMTA1 were changed from to Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:41:58.421549+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.88",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMTA1 were set to ",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:41:28.215463+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.87",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAMTA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:41:04.811796+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CAMTA1 as Red List (low evidence)",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:41:04.803066+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.86",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: camta1 has been classified as Red List (Low Evidence).",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:40:35.259934+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.85",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:40:27.154472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CAMTA1 were set to ",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:38:43.594464+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CAMTA1.",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-14T14:38:31.370152+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAMTA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32157189, 22693284; Phenotypes: Cerebellar ataxia, nonprogressive, with mental retardation (614756 AD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CAMTA1",
"entity_type": "gene"
},
{
"created": "2020-03-12T16:04:37.413868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI3K as ready",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T16:04:37.390186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T16:04:28.091084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNI3K as Green List (high evidence)",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T16:04:28.082286+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1700",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T16:02:27.401135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1699",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNI3K was added\ngene: TNNI3K was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 30010057; 29355681\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM#\t616117\nReview for gene: TNNI3K was set to GREEN\ngene: TNNI3K was marked as current diagnostic\nAdded comment: At least 6 multigenerational families reported where variants segregated with disease. \nSources: Expert list",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:57:10.943221+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNNI3K as ready",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:57:10.936771+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:57:10.890820+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:56:47.376594+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy\t616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM#\t616117",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:56:24.182208+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNNI3K as Green List (high evidence)",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:56:24.168755+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnni3k has been classified as Green List (High Evidence).",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T15:52:11.846370+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.20",
"user_name": "Ivan Macciocca",
"item_type": "entity",
"text": "gene: TNNI3K was added\ngene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 30010057; 29355681\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy\t616117\nReview for gene: TNNI3K was set to GREEN\ngene: TNNI3K was marked as current diagnostic\nAdded comment: mutliple families reported. Green on England PanelApp \nSources: Expert list",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:53.858279+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KREMEN1 as ready",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:53.848804+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:50.208190+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KREMEN1 were set to ",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:31.903490+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KREMEN1 as Amber List (moderate evidence)",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:31.890269+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kremen1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T14:12:22.113359+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KREMEN1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29526031, 29526031; Phenotypes: Ectodermal dysplasia 13, hair/tooth type, 617392; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KREMEN1",
"entity_type": "gene"
},
{
"created": "2020-03-12T12:31:05.997881+11:00",
"panel_name": "Ectodermal Dysplasia",
"panel_id": 3089,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel name changed from Ectodermal Dysplasia_RMH to Ectodermal Dysplasia\nPanel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-03-12T12:29:19.253094+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENAM as ready",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2020-03-12T12:29:19.239666+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enam has been classified as Red List (Low Evidence).",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2020-03-12T12:29:11.677097+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENAM was added\ngene: ENAM was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: ENAM was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ENAM were set to Amelogenesis imperfecta, type IB, MIM#\t104500; Amelogenesis imperfecta, type IC, MIM#\t204650\nReview for gene: ENAM was set to RED\nAdded comment: Affects teeth only. \nSources: Expert list",
"entity_name": "ENAM",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:40:44.803699+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PKP1 as ready",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:40:44.795203+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:40:39.639764+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PKP1 as Green List (high evidence)",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:40:39.626764+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pkp1 has been classified as Green List (High Evidence).",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:40:31.072031+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.16",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PKP1 was added\ngene: PKP1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: PKP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKP1 were set to 26288439; 9326952\nPhenotypes for gene: PKP1 were set to Ectodermal dysplasia/skin fragility syndrome MIM#604536\nReview for gene: PKP1 was set to GREEN\nAdded comment: Ectodermal dysplasia is a prominent feature of the condition. >3 cases reported. \nSources: Expert list",
"entity_name": "PKP1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:31:20.226808+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:31:20.215739+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:31:16.928863+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GPT2 as Green List (high evidence)",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:31:16.915495+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:30:48.823398+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GPT2 were set to 27601654; 25758935\nPhenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, MIM#616281\nReview for gene: GPT2 was set to GREEN\nAdded comment: Two missense and 1 truncating variants reported, in 3 unrelated consanguineous families with intellectual and developmental disabilities and microcephaly. Functional studies showed loss of enzyme activity. \nSources: Expert list",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:55.834898+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NFKBIA as ready",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:55.826173+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:48.239971+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFKBIA as Green List (high evidence)",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:48.231031+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfkbia has been classified as Green List (High Evidence).",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:37.539203+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFKBIA was added\ngene: NFKBIA was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: NFKBIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFKBIA were set to 28597146\nPhenotypes for gene: NFKBIA were set to Ectodermal dysplasia and immunodeficiency 2 MIM#612132\nMode of pathogenicity for gene: NFKBIA 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: NFKBIA was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported. Gain-of-function missense variants and nonsense variants upstream from S32 associated with the reinitiation of translation downstream. \nSources: Expert list",
"entity_name": "NFKBIA",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:24.546126+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:24.531441+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:29:15.762082+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1698",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:28:52.989847+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPT2 were set to ",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:28:32.650586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:28:12.419315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27601654, 25758935; Phenotypes: Mental retardation, autosomal recessive 49, MIM#616281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:27:09.128089+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPT2 as ready",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:27:09.114728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpt2 has been classified as Green List (High Evidence).",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:27:03.491103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPT2 were changed from to Mental retardation, autosomal recessive 49, MIM#616281",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:26:36.727960+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPT2 were set to ",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:26:10.250044+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPT2",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:10:43.973786+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NECTIN1 as ready",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:10:43.954039+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nectin1 has been classified as Green List (High Evidence).",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:10:40.659476+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NECTIN1 as Green List (high evidence)",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:10:40.647685+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nectin1 has been classified as Green List (High Evidence).",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-03-11T20:09:24.465972+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NECTIN1 was added\ngene: NECTIN1 was added to Ectodermal Dysplasia_RMH. Sources: Expert list\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NECTIN1 were set to 25913853\nPhenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome MIM#225060\nReview for gene: NECTIN1 was set to GREEN\nAdded comment: Ectodermal dysplasia is a feature of the condition. >3 cases reported \nSources: Expert list",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:48:07.207943+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT74 as Amber List (moderate evidence)",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:48:07.199405+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.11",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt74 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:47:52.522332+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: KRT74: Rating: AMBER; Mode of pathogenicity: None; Publications: 24714551; Phenotypes: Ectodermal dysplasia 7, hair/nail type MIM#614929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KRT74",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:32:17.793537+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IKBKG as ready",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:32:17.784330+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ikbkg has been classified as Green List (High Evidence).",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-03-11T19:32:11.915788+11:00",
"panel_name": "Ectodermal Dysplasia_RMH",
"panel_id": 3089,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IKBKG as Green List (high evidence)",
"entity_name": "IKBKG",
"entity_type": "gene"
}
]
}