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{
"created": "2020-04-11T14:26:28.112606+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:25:39.640144+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFAT5 as ready",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:25:39.631650+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfat5 has been classified as Red List (Low Evidence).",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:25:31.475445+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NFAT5 were changed from to Recurrent infections; Autoimmune enterocolopathy",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:25:10.514315+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFAT5 were set to 25667416",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:24:49.465877+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NFAT5 were set to ",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:24:25.060330+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NFAT5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:24:01.815057+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFAT5 as Red List (low evidence)",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:24:01.800872+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfat5 has been classified as Red List (Low Evidence).",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:23:31.681750+10:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NFAT5: Rating: RED; Mode of pathogenicity: None; Publications: 25667416; Phenotypes: Recurrent infections, Autoimmune enterocolopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NFAT5",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:52.816693+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MS4A1 as ready",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:52.806767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Red List (Low Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:45.428249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:31.678880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MS4A1 were set to ",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:17.999387+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:03.297894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MS4A1 as Red List (low evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:03.285224+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Red List (Low Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:01.086935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MS4A1 as Red List (low evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:14:01.077539+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Red List (Low Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:13:43.313318+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:09:44.803072+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MS4A1 as ready",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:09:44.790165+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Red List (Low Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:09:42.034447+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MS4A1 were changed from to Immunodeficiency, common variable, 5, MIM# 613495",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:09:15.581904+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MS4A1 were set to ",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:08:50.506007+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MS4A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:08:05.419186+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MS4A1 as Red List (low evidence)",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:08:05.405936+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ms4a1 has been classified as Red List (Low Evidence).",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T14:07:32.442600+10:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MS4A1: Rating: RED; Mode of pathogenicity: None; Publications: 20038800; Phenotypes: Immunodeficiency, common variable, 5, MIM# 613495; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MS4A1",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:59:30.599027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP2 as ready",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:59:30.590491+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp2 has been classified as Red List (Low Evidence).",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:59:22.338899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:59:00.220439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:58:38.851640+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MASP2 as Red List (low evidence)",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:58:38.838380+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp2 has been classified as Red List (Low Evidence).",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:58:18.470484+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:55:32.706801+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MASP2 as ready",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:55:32.697963+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp2 has been classified as Red List (Low Evidence).",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:55:30.226787+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MASP2 were changed from to MASP2 deficiency, MIM# 613791",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:55:06.487115+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MASP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:54:42.291443+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MASP2 as Red List (low evidence)",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:54:42.277843+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: masp2 has been classified as Red List (Low Evidence).",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:54:12.148846+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MASP2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: MASP2 deficiency, MIM# 613791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MASP2",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:31:48.331236+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGAM as ready",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T13:31:48.321974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgam has been classified as Red List (Low Evidence).",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:47:30.243628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGAM as Red List (low evidence)",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:47:30.230751+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgam has been classified as Red List (Low Evidence).",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:47:11.702410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:46:46.915272+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITGAM as ready",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:46:46.900992+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgam has been classified as Red List (Low Evidence).",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:46:42.720038+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ITGAM as Red List (low evidence)",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:46:42.710765+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itgam has been classified as Red List (Low Evidence).",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-11T12:46:12.628006+10:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ITGAM: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ITGAM",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:19:27.738748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF7 as ready",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:19:27.725798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:19:09.798820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2098",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:13:26.397748+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2097",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF7 were set to ",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:13:11.126536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:12:25.026401+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Amber List (moderate evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:12:25.017569+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:12:00.523418+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:11:02.720655+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF7 as ready",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:11:02.706496+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:09:19.115056+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:08:54.716915+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF7 were set to ",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:08:29.365081+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:08:20.992938+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IRF7 as ready",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:08:20.974095+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:08:09.336307+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IRF7 were changed from to Immunodeficiency 39, MIM# 616345",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:07:46.727963+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Amber List (moderate evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:07:46.713526+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:07:14.214738+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:07:13.885853+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IRF7 were set to ",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:06:37.814642+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IRF7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:06:14.076287+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: IRF7 as Amber List (moderate evidence)",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:06:14.060825+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: irf7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T20:05:42.778963+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IRF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 25814066, 15800576; Phenotypes: Immunodeficiency 39, MIM# 616345; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IRF7",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:38:22.138969+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DMD as ready",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:38:22.125943+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dmd has been classified as Green List (High Evidence).",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:38:18.596798+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DMD were changed from to Cardiomyopathy, dilated, 3B (MIM#302045)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:37:09.709180+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DMD were set to ",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:36:47.102686+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.878927+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.810973+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A10 was added\ngene: SLC2A10 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MIM#208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.741812+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RIN2 was added\ngene: RIN2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: RIN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RIN2 were set to Macrocephaly, alopecia, cutis laxa, and scoliosis MIM#613075",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.674699+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum MIM#231070",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.605069+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PYCR1 was added\ngene: PYCR1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438",
"entity_name": "PYCR1",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.536284+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LTBP4 was added\ngene: LTBP4 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: LTBP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LTBP4 were set to Cutis laxa, autosomal recessive, type IC MIM#613177",
"entity_name": "LTBP4",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.470014+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FBLN5 was added\ngene: FBLN5 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: FBLN5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FBLN5 were set to Cutis laxa, autosomal recessive, type IA MIM#219100; ?Cutis laxa, autosomal dominant 2 MIM#614434",
"entity_name": "FBLN5",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.404049+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELN was added\ngene: ELN was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELN were set to Cutis laxa, autosomal dominant MIM#123700",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.336201+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EFEMP2 was added\ngene: EFEMP2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB MIM#614437",
"entity_name": "EFEMP2",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.268684+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Occipital horn syndrome MIM#304150",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.202501+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA MIM#219200; Wrinkly skin syndrome MIM#278250",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.133281+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH18A1 was added\ngene: ALDH18A1 was added to Cutis Laxa. Sources: Expert Review Green,GeneReviews\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to Cutis laxa, autosomal recessive, type IIIA MIM#219150",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:25:38.088594+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Cutis Laxa",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-10T18:15:02.923324+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL21 as ready",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:15:02.914604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21 has been classified as Red List (Low Evidence).",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:14:58.706731+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL21 as ready",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:14:58.693148+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il21 has been classified as Red List (Low Evidence).",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:14:55.724725+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767",
"entity_name": "IL21",
"entity_type": "gene"
},
{
"created": "2020-04-10T18:14:24.766444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL21 were changed from to Immunodeficiency, common variable, 11, MIM# 615767",
"entity_name": "IL21",
"entity_type": "gene"
}
]
}