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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=693",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=691",
"results": [
{
"created": "2022-11-16T20:35:27.104992+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC2 were set to ",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:35:02.708080+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TSC2.",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:34:43.177074+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSC1 as ready",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:34:43.147389+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsc1 has been classified as Green List (High Evidence).",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:34:39.180319+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSC1 were set to ",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:34:26.846551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TSC1.",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:54.409907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM4 as ready",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:54.378986+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:48.706240+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM4 were changed from Cardiac conduction disease to Progressive familial heart block, type IB 604559",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:36.540120+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPM4 were set to ",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:22.115800+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM4 as Amber List (moderate evidence)",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:22.099295+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:33:07.114231+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TRPM4.",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:32:34.480605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:32:34.470151+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:32:30.517315+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMU were changed from Liver failure, transient infantile to Liver failure, transient infantile MIM# 613070",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:32:14.272751+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMU were set to ",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:31:51.352385+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TRMU.",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:31:21.994106+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIOBP as ready",
"entity_name": "TRIOBP",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:31:21.985552+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: triobp has been classified as Green List (High Evidence).",
"entity_name": "TRIOBP",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:31:11.453391+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIOBP were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 28, MIM#609823",
"entity_name": "TRIOBP",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:30:52.216055+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIOBP were set to ",
"entity_name": "TRIOBP",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:56.792319+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM37 as ready",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:56.777341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:44.264109+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM37 were changed from Mulibrey nanism syndrome to Mulibrey nanism MIM#253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:30.651751+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM37 were set to ",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:15.651640+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM37 as Red List (low evidence)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:29:15.640288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:28:51.478731+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mulibrey nanism MIM#253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:27:02.851366+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENG were set to ",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:26:52.280533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENG as Green List (high evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:26:52.263108+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Green List (High Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:26:40.068491+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ENG: Changed publications: 32894695",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:26:35.057781+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association.\r\n\r\nClingen: strong actionability in adults\r\nAlthough HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.\r\n\r\nHowever, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI).\r\n\r\nFor review.; to: Well established gene disease association.\r\n\r\nClingen: strong actionability in adults\r\nAlthough HHT is a developmental disorder and infants are occasionally severely affected, in most people the features are age-dependent and the diagnosis is not suspected until adolescence or later. The average age of onset for epistaxis is 12 years, with 50-80% of patients affected before the age of 20 and 78-96% developing it eventually. Most patients report the appearance of telangiectasia of the mouth, face, or hands 5-30 years after the onset of nose bleeds, most commonly during the third decade. GI bleeding, when present, usually presents in the 5th or 6th decades of life. Patients rarely develop significant GI bleeding before 40 years of age. Women are affected with GI bleeding in a ratio of 2-3:1. AVMs of the brain are typically present at birth, whereas those in the lung and liver typically develop over time. Hemorrhage is often the presenting symptom of cerebral AVMs, while visceral AVMs may cause transient ischemic attacks, embolic stroke, and cerebral or other abscesses. Hepatic AVMs can present as high-output heart failure, portal hypertension, or biliary disease.\r\n\r\nHowever, screening guidelines recommend screening for cerebral AVMs in first 6 months of life or at diagnosis (MRI). Management guidelines also suggest screening in asymptomatic children for pulmonary AVMs, PMID 32894695.\r\n\r\n",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T20:26:12.510551+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ENG: Changed rating: GREEN",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:38:05.387018+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENG as ready",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:38:05.377045+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Amber List (Moderate Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:38:01.436674+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:37:48.487673+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ENG as Amber List (moderate evidence)",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:37:48.478782+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eng has been classified as Amber List (Moderate Evidence).",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:37:36.086664+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ENG: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ENG",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:51.785906+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EMD as ready",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:51.774259+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Red List (Low Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:48.333432+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EMD were changed from Muscular dystrophy, Emery-Dreifuss to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:35.682758+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EMD as Red List (low evidence)",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:35.675057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: emd has been classified as Red List (Low Evidence).",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:26.353579+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: EMD.",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:30:17.637949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EMD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "EMD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:27:44.975057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:27:44.966461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:27:40.790813+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELP1 were changed from Dysautonomia, familial to Dysautonomia, familial MIM#223900; paediatric medulloblastoma",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:27:28.620571+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ELP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:26:50.307216+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELP1 as Red List (low evidence)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:26:50.298035+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Red List (Low Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:26:38.177907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Dysautonomia, familial MIM#223900, paediatric medulloblastoma; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:26:28.051964+11:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.15",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 34494111; Phenotypes: Basal ganglia calcification, idiopathic, 4, MIM# 615007, MONDO:0014004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDGFRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:49.166237+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELN as ready",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:49.156183+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eln has been classified as Red List (Low Evidence).",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:45.568221+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELN were changed from Supravalvar aortic stenosis to cutis laxa, autosomal dominant 1 MONDO:0007411; supravalvular aortic stenosis MONDO:0008504",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:32.414043+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELN as Red List (low evidence)",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:32.404456+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eln has been classified as Red List (Low Evidence).",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:24:21.340400+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: cutis laxa, autosomal dominant 1 MONDO:0007411, supravalvular aortic stenosis MONDO:0008504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELN",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:22:47.412837+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELANE as ready",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:22:47.401324+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elane has been classified as Green List (High Evidence).",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:22:43.986344+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELANE were changed from Neutropenia, congenital, MIM#202700 to Neutropenia, congenital, MIM#202700",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:22:29.068154+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ELANE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neutropaenia, severe congenital 1, autosomal dominant, MIM# 202700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ELANE",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:20:59.665030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2AK3 as ready",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:20:59.649293+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2ak3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:20:50.713461+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EIF2AK3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wolcott-Rallison syndrome MONDO:0009192; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EIF2AK3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:18:19.879659+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGR2 as ready",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:18:19.871236+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egr2 has been classified as Red List (Low Evidence).",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:18:16.288049+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EGR2 were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 1D 607678; Dejerine-Sottas disease 145900; Hypomyelinating neuropathy, congenital, 1, MIM# 605253",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:17:55.095260+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGR2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:17:34.218017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EGR2 as Red List (low evidence)",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:17:34.208532+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egr2 has been classified as Red List (Low Evidence).",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:17:22.745521+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EGR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678, Dejerine-Sottas disease 145900, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:15:14.493390+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:15:14.484169+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:15:09.894234+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from Mandibulofacial dysostosis with microcephaly to Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:14:55.370206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:13:59.826241+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFL1 as ready",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:13:59.815926+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efl1 has been classified as Green List (High Evidence).",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:13:52.282760+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EFL1: Changed rating: GREEN",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:13:34.310879+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EFL1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome 2, MIM# 617941; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EFL1",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:12:12.944533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDNRB as ready",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:12:12.935144+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ednrb has been classified as Green List (High Evidence).",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:12:04.037288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDNRB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome type 4A MONDO:0010192; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EDNRB",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:09:39.218660+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDN3 as ready",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:09:39.210224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edn3 has been classified as Green List (High Evidence).",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:09:35.016164+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDN3 were changed from Waardenburg syndrome to Waardenburg syndrome, type 4B, MIM# 613265",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:09:20.205979+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Waardenburg syndrome, type 4B, MIM# 613265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EDN3",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:28.640656+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDARADD as ready",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:28.630599+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edaradd has been classified as Red List (Low Evidence).",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:24.930622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDARADD were changed from Ectodermal dysplasia, hypohidrotic to autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884; autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:11.203902+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EDARADD was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:00.493103+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EDARADD as Red List (low evidence)",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:06:00.483836+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edaradd has been classified as Red List (Low Evidence).",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T18:05:47.213649+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EDARADD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884, autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "EDARADD",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:50:31.701264+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDAR as ready",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2022-11-16T17:50:31.692159+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edar has been classified as Red List (Low Evidence).",
"entity_name": "EDAR",
"entity_type": "gene"
}
]
}