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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1815",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1813",
"results": [
{
"created": "2020-04-30T17:19:36.832481+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat2 has been classified as Green List (High Evidence).",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:19:32.059520+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: STAT2 were changed from to Autoinflammatory disorder",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:18:58.047261+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAT2 as Green List (high evidence)",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:18:58.033243+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stat2 has been classified as Green List (High Evidence).",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2020-04-30T17:18:28.398594+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT2 was added\ngene: STAT2 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: STAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAT2 were set to 31836668; 32092142\nReview for gene: STAT2 was set to GREEN\nAdded comment: Three individuals from two unrelated families reported with bi-allelic GoF variants and severe auto inflammatory disease. Functional data. Note gene is already associated with other immune phenotypes. \nSources: Literature",
"entity_name": "STAT2",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:01:25.022284+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABHD12 as ready",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:01:25.012867+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abhd12 has been classified as Green List (High Evidence).",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:01:14.195365+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABHD12 were changed from to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:00:51.376483+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABHD12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:00:13.732468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC6 as ready",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-04-30T13:00:13.720162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc6 has been classified as Green List (High Evidence).",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-04-30T12:59:06.405086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AAAS as ready",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-04-30T12:59:06.396214+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aaas has been classified as Green List (High Evidence).",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-04-30T12:58:50.998103+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, MIM#231550",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-04-30T12:58:23.522623+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AAAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-04-30T09:29:30.454223+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.442",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "commented on gene: DNM2",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:56:50.899550+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3C as ready",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:56:50.888165+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3c has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:56:29.006599+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL18BP as ready",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:56:28.993886+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il18bp has been classified as Red List (Low Evidence).",
"entity_name": "IL18BP",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:55:08.374666+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOS2 as ready",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:55:08.361653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos2 has been classified as Red List (Low Evidence).",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:54:58.780452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2663",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NOS2 were changed from to {Malaria, resistance to} 611162; Disseminated CMV disease",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:25:20.618996+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NOS3 as Red List (low evidence)",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:25:20.608189+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nos3 has been classified as Red List (Low Evidence).",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:25:11.966035+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NOS3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Ischemic stroke, susceptibility to} MIM#601367; Mode of inheritance: Unknown",
"entity_name": "NOS3",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:01:29.713111+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2662",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NOS2 were set to ",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:01:08.855327+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOS2 as Red List (low evidence)",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:01:08.845367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2661",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos2 has been classified as Red List (Low Evidence).",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:01:05.611087+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MMACHC as Green List (high evidence)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:01:05.599937+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mmachc has been classified as Green List (High Evidence).",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:00:49.690402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NOS2: Changed rating: RED",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:00:35.121077+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Stroke. Sources: Literature\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMACHC were set to 12552044; 11742888; 30356112\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type\tMIM#277400\nReview for gene: MMACHC was set to GREEN\nAdded comment: Large artery atherosclerosis, large artery non-atherosclerosis with dissections, coagulation pathology venous thrombosis, and coagulation pathology arterial thrombosis are stroke subtypes reported in this condition. \nSources: Literature",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2020-04-29T19:00:34.014094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NOS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12433515, 31995689; Phenotypes: {Malaria, resistance to} 611162, Disseminated CMV disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:55:06.027535+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOS2 as ready",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:55:06.012315+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nos2 has been classified as Red List (Low Evidence).",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:54:57.315154+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOS2 was added\ngene: NOS2 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: NOS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NOS2 were set to 31995689\nPhenotypes for gene: NOS2 were set to Disseminated CMV disease\nReview for gene: NOS2 was set to RED\nAdded comment: Single individual reported with progressive, fatal CMV disease and homozygous LoF variant in NOS2. \nSources: Expert list",
"entity_name": "NOS2",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:42:19.415675+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD70 as ready",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:42:19.402640+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd70 has been classified as Green List (High Evidence).",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:42:14.536660+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD70 as Green List (high evidence)",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:42:14.527924+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd70 has been classified as Green List (High Evidence).",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:41:43.258096+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD70 was added\ngene: CD70 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD70 were set to 28011864; 28011863,\nPhenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM#\t618261; Host response to EBV\nReview for gene: CD70 was set to GREEN\nAdded comment: Three unrelated families reported. \nSources: Expert list",
"entity_name": "CD70",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:39:31.538463+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CD27 as ready",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:39:31.527790+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:39:26.407988+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CD27 as Green List (high evidence)",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:39:26.399528+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cd27 has been classified as Green List (High Evidence).",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:38:56.333804+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD27 was added\ngene: CD27 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD27 were set to 22801960; 22197273\nPhenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, MIM#\t615122; Host response to EBV\nReview for gene: CD27 was set to GREEN\nAdded comment: At least four families reported. \nSources: Expert list",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:36:50.551679+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITK as ready",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:36:50.542951+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:36:46.111017+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITK as Green List (high evidence)",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:36:46.098867+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itk has been classified as Green List (High Evidence).",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:36:15.844279+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITK was added\ngene: ITK was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITK were set to 19425169; 22289921; 21109689\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM#\t613011; EBV- associated B cell lymphoproliferation, lymphoma\nReview for gene: ITK was set to GREEN\nAdded comment: At least three families reported, abnormal host response to EBV. \nSources: Expert list",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:34:03.602838+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: XIAP as ready",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:34:03.591835+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:33:58.580651+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: XIAP as Green List (high evidence)",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:33:58.571623+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: xiap has been classified as Green List (High Evidence).",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:33:27.785387+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: XIAP was added\ngene: XIAP was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: XIAP were set to 17080092\nPhenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2\t300635; Host response to EBV\nReview for gene: XIAP was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:30:53.326228+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SH2D1A as ready",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:30:53.313909+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Green List (High Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:30:35.299712+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SH2D1A as Green List (high evidence)",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:30:35.291344+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sh2d1a has been classified as Green List (High Evidence).",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:30:04.385782+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SH2D1A was added\ngene: SH2D1A was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: SH2D1A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SH2D1A were set to 9771704\nPhenotypes for gene: SH2D1A were set to Host response to EBV infection; Lymphoproliferative syndrome, X-linked, 1\t308240\nReview for gene: SH2D1A was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SH2D1A",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:24:08.284478+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NLRP1 as ready",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:24:08.275149+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nlrp1 has been classified as Red List (Low Evidence).",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:24:01.094169+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NLRP1 was added\ngene: NLRP1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: NLRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NLRP1 were set to 31484767\nPhenotypes for gene: NLRP1 were set to Recurrent respiratory papillomatosis\nReview for gene: NLRP1 was set to RED\nAdded comment: Single family reported with homozygous GoF variants in siblings with recurrent respiratory papillomatosis. Note gene is associated with multiple, mono- and bi-allelic immunological phenotypes. \nSources: Expert list",
"entity_name": "NLRP1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:19:55.237412+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIB1 as ready",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:19:55.223618+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib1 has been classified as Green List (High Evidence).",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:19:51.397640+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIB1 as Green List (high evidence)",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:19:51.388855+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cib1 has been classified as Green List (High Evidence).",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:19:21.666442+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIB1 was added\ngene: CIB1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB1 were set to 30068544\nPhenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3, MIM#\t618267; HPV infections and cancer of the skin\nReview for gene: CIB1 was set to GREEN\nAdded comment: 24 individuals from six families reported. \nSources: Expert list",
"entity_name": "CIB1",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:13:13.949405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORA31 as ready",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:13:13.937471+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:13:04.598748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNORA31 as Green List (high evidence)",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:13:04.589990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:12:44.786178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNORA31 was added\ngene: SNORA31 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNORA31 were set to 31806906\nPhenotypes for gene: SNORA31 were set to Susceptibility to HSV1 encephalitis\nReview for gene: SNORA31 was set to GREEN\nAdded comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis. \nSources: Expert list",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:12:26.420216+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SNORA31 as ready",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:12:26.411522+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:11:27.491475+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNORA31 were changed from Susceptibility to herpes simplex encephalitis to Susceptibility to HSV1 encephalitis",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:10:57.904620+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SNORA31 as Green List (high evidence)",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:10:57.891311+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: snora31 has been classified as Green List (High Evidence).",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T18:10:23.500031+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNORA31 was added\ngene: SNORA31 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: SNORA31 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SNORA31 were set to 31806906\nPhenotypes for gene: SNORA31 were set to Susceptibility to herpes simplex encephalitis\nReview for gene: SNORA31 was set to GREEN\nAdded comment: Five unrelated individuals reported with rare missense variants in this gene, functional data to support susceptibility to herpes simplex encephalitis. \nSources: Expert list",
"entity_name": "SNORA31",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:43:37.999693+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRDM13 as Green List (high evidence)",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:43:37.995572+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Cause of condition cannot be detected by WES",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:43:37.971882+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.10",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prdm13 has been classified as Green List (High Evidence).",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:41:44.929454+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: PRDM13: Changed rating: GREEN",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:41:29.715893+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.9",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2020-04-29T16:27:22.937662+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.139",
"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": "2020-04-29T15:58:13.673693+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:58:13.660759+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:58:01.569616+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FKRP as Green List (high evidence)",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:58:01.558443+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:57:18.835413+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMT2 as ready",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:57:18.826445+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:57:14.992043+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POMT2 as Green List (high evidence)",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:57:14.983317+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomt2 has been classified as Green List (High Evidence).",
"entity_name": "POMT2",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:56:30.124638+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROBO3 as ready",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:56:30.113467+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:56:25.262608+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROBO3 as Green List (high evidence)",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:56:25.253444+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: robo3 has been classified as Green List (High Evidence).",
"entity_name": "ROBO3",
"entity_type": "gene"
},
{
"created": "2020-04-29T15:55:23.073125+10:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
}
]
}