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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1881",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1879",
"results": [
{
"created": "2020-04-05T21:09:39.781365+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:09:22.248695+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SAMHD1 as Green List (high evidence)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:09:22.235363+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: samhd1 has been classified as Green List (High Evidence).",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:08:45.405417+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, MIM#\t612952\nReview for gene: SAMHD1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:06:42.074091+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2A as ready",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:06:42.059711+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:06:35.620383+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2A as Green List (high evidence)",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:06:35.611450+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2a has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:06:06.009887+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, MIM#\t610333\nReview for gene: RNASEH2A was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:04:39.319468+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:04:39.310809+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:04:34.789188+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2C as Green List (high evidence)",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:04:34.780804+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:04:05.612359+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, MIM#\t610329\nReview for gene: RNASEH2C was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:02:27.625913+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNASEH2B as ready",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:02:27.611447+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:02:23.846393+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNASEH2B as Green List (high evidence)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:02:23.837348+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnaseh2b has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:01:53.950027+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, MIM#\t610181\nReview for gene: RNASEH2B was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:00:18.108171+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TREX1 as ready",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:00:18.099281+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:00:13.502860+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TREX1 as Green List (high evidence)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T21:00:13.493986+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trex1 has been classified as Green List (High Evidence).",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T20:59:44.799619+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to {Systemic lupus erythematosus, susceptibility to}\t152700; Aicardi-Goutieres syndrome 1, dominant and recessive\t225750\nReview for gene: TREX1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:15:32.935634+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TMEM173: Changed phenotypes: STING-associated vasculopathy, infantile-onset, MIM# 615934; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:15:17.940061+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM173 as ready",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:15:17.931237+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:15:10.762876+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM173 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:14:40.900984+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM173 as Green List (high evidence)",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:14:40.892400+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem173 has been classified as Green List (High Evidence).",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:14:10.936917+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM173 was added\ngene: TMEM173 was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Expert list\nMode of inheritance for gene: TMEM173 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM173 were set to 25401470; 25029335\nPhenotypes for gene: TMEM173 were set to STING-associated vasculopathy, infantile-onset, MIM#\t615934\nMode of pathogenicity for gene: TMEM173 was set to Other\nReview for gene: TMEM173 was set to GREEN\nAdded comment: Four families reported. \nSources: Expert list",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:11:00.909067+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-05T19:04:19.864148+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HMOX1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21088618, 9884342, 20844238; Phenotypes: Heme oxygenase-1 deficiency, MIM# 614034, Asplenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:03:26.894846+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMOX1 as ready",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:03:26.885833+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:03:22.908646+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMOX1 as Amber List (moderate evidence)",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:03:22.900300+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmox1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T19:02:52.359660+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMOX1 was added\ngene: HMOX1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMOX1 were set to 21088618; 9884342; 20844238\nPhenotypes for gene: HMOX1 were set to Heme oxygenase-1 deficiency, MIM#\t614034; Asplenia\nReview for gene: HMOX1 was set to AMBER\nAdded comment: Two families reported, functional data. \nSources: Expert list",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:55:47.422251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease.; to: No evidence currently for Mendelian disease association. Some evidence for polymorphisms in this gene influencing susceptibility/protection from infectious disease. One family with 8 individuals and bi-allelic variants and susceptibility to staphylococcal disease reported.",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:55:09.720645+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TIRAP: Changed publications: 28235196; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:54:17.417775+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIRAP as ready",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:54:17.404617+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tirap has been classified as Red List (Low Evidence).",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:54:09.981999+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TIRAP was added\ngene: TIRAP was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TIRAP were set to 28235196\nPhenotypes for gene: TIRAP were set to Staphylococcal disease during childhood\nReview for gene: TIRAP was set to RED\nAdded comment: Eight individuals from a single family. \nSources: Expert list",
"entity_name": "TIRAP",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:49:57.322961+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK1 as ready",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:49:57.309702+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak1 has been classified as Red List (Low Evidence).",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:49:47.604178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: IRAK1.",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:49:35.804734+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: IRAK1.",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:49:34.602008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRAK1 was added\ngene: IRAK1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRAK1 were set to 28069966\nPhenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections\nReview for gene: IRAK1 was set to RED\nAdded comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies. \nSources: Expert list",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:47:52.358705+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRAK1 as ready",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:47:52.349257+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irak1 has been classified as Red List (Low Evidence).",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:47:44.342197+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IRAK1 was added\ngene: IRAK1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IRAK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IRAK1 were set to 28069966\nPhenotypes for gene: IRAK1 were set to Susceptibility to bacterial infections\nReview for gene: IRAK1 was set to RED\nAdded comment: Single individual with MECP2 and IRAK1 deletion, died in infancy, immunological phenotype not fully elucidated. In vitro studies. \nSources: Expert list",
"entity_name": "IRAK1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:34:15.511724+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:34:15.498199+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:34:06.132947+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DBR1 as Green List (high evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:34:06.119760+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:33:30.897975+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DBR1 as ready",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:33:30.889694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:33:11.437010+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DBR1 as Green List (high evidence)",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:33:11.424438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dbr1 has been classified as Green List (High Evidence).",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:32:52.525583+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 29474921\nPhenotypes for gene: DBR1 were set to Viral infections of the brainstem\nReview for gene: DBR1 was set to GREEN\nAdded comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants. \nSources: Expert list",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:31:44.418674+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DBR1 was added\ngene: DBR1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: DBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DBR1 were set to 29474921\nPhenotypes for gene: DBR1 were set to Viral infections of the brainstem\nReview for gene: DBR1 was set to GREEN\nAdded comment: Seven individuals from three unrelated families with viral brainstem encephalitis and bi-allelic hypomorphic variants. \nSources: Expert list",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:25:44.081416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3F as ready",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:25:44.072042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3f has been classified as Red List (Low Evidence).",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:25:34.050294+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1984",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3F was added\ngene: POLR3F was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3F were set to 30211253\nPhenotypes for gene: POLR3F were set to Severe VZV infection\nReview for gene: POLR3F was set to RED\nAdded comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited. \nSources: Expert list",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:23:53.935504+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3F as ready",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:23:53.922721+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3f has been classified as Red List (Low Evidence).",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:20:17.328993+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3F was added\ngene: POLR3F was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: POLR3F was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3F were set to 30211253\nPhenotypes for gene: POLR3F were set to Severe VZV infection\nReview for gene: POLR3F was set to RED\nAdded comment: Missense variant identified in a pair of monozygotic twins. Variant was paternally inherited. \nSources: Expert list",
"entity_name": "POLR3F",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:13:48.688848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3C as ready",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:13:48.675796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1983",
"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": "2020-04-05T18:13:38.970946+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1983",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3C as Amber List (moderate evidence)",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:13:38.954844+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1983",
"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": "2020-04-05T18:13:21.062292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1982",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3C was added\ngene: POLR3C was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3C were set to 28783042\nPhenotypes for gene: POLR3C were set to Severe VZV infection\nReview for gene: POLR3C was set to AMBER\nAdded comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants. \nSources: Expert list",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:12:40.312697+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3C as Amber List (moderate evidence)",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:12:40.299542+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.19",
"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": "2020-04-05T18:12:12.141861+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3C was added\ngene: POLR3C was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: POLR3C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3C were set to 28783042\nPhenotypes for gene: POLR3C were set to Severe VZV infection\nReview for gene: POLR3C was set to AMBER\nAdded comment: One individual with POLR3C variant and another individual with both POL3RA and POL3RC variants. \nSources: Expert list",
"entity_name": "POLR3C",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:09:22.773501+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:09:22.760440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Green List (High Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:09:14.691130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1981",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:08:59.104206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1980",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLR3A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:08:36.317754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694, Wiedemann-Rautenstrauch syndrome, MIM# 264090, Susceptibility to severe VZV infection; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:05:53.290478+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLR3A as ready",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:05:53.277523+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:05:27.008436+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLR3A as Amber List (moderate evidence)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:05:26.999678+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polr3a has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:04:56.667848+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: POLR3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLR3A were set to 28783042; 29728610\nPhenotypes for gene: POLR3A were set to Severe VZV infection\nReview for gene: POLR3A was set to AMBER\nAdded comment: Two individuals with mono allelic POLR3A variants and another individual with both POLR3A and a POLR3C variants reported. \nSources: Expert list",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:00:38.694160+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFIH1 as ready",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:00:38.685399+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:00:34.636120+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFIH1 as Green List (high evidence)",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:00:34.627333+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifih1 has been classified as Green List (High Evidence).",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-05T18:00:04.540050+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 28716935; 29018476\nPhenotypes for gene: IFIH1 were set to Severe viral respiratory infections; Rhinovirus and other RNA viruses\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Three unrelated individuals with mono allelic LoF variants reported from a cohort of children admitted to ICU with severe respiratory infections (PMID:28716935). Another individual with bi-allelic variants and recurrent and prolonged infections also reported (PMID: 29018476) \nSources: Expert list",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:54:19.963602+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNAR2 as ready",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:54:19.950508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Red List (Low Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:54:11.790286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1979",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFNAR2 were changed from to Immunodeficiency 45, MIM# 616669",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:53:51.347815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1978",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFNAR2 were set to ",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:53:31.753951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1977",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IFNAR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:53:07.920156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IFNAR2 as Red List (low evidence)",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:53:07.910994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1976",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Red List (Low Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:52:49.062305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1975",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFNAR2: Rating: RED; Mode of pathogenicity: None; Publications: 26424569; Phenotypes: Immunodeficiency 45, MIM# 616669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:51:43.198011+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFNAR2 as ready",
"entity_name": "IFNAR2",
"entity_type": "gene"
},
{
"created": "2020-04-05T17:51:43.184966+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ifnar2 has been classified as Red List (Low Evidence).",
"entity_name": "IFNAR2",
"entity_type": "gene"
}
]
}