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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=733",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=731",
"results": [
{
"created": "2022-10-05T19:31:16.948980+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:31:16.940783+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:31:13.580974+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.290",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from Congenital myasthenic syndrome, MIM#601462 to Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:30:57.314196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.289",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA1 were set to ",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:30:41.619069+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CHRNA1: Changed publications: 30808424",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:30:22.113455+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHRNA1.",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:30:13.666122+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668, Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:28:37.938565+11:00",
"panel_name": "Congenital ophthalmoplegia",
"panel_id": 3379,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:28:18.524534+11:00",
"panel_name": "Congenital Myasthenia",
"panel_id": 3078,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:28:06.013164+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:27:44.428484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:27:32.926271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHAT as ready",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:27:32.916333+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chat has been classified as Green List (High Evidence).",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:27:06.635645+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CHAT.",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:26:56.745788+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 6, presynaptic, 254210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:55.060182+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CA5A as ready",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:55.047901+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ca5a has been classified as Green List (High Evidence).",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:47.641430+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:30.493098+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:18.383641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: CA5A.",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:16:07.543989+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CA5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperammonemia due to carbonic anhydrase VA deficiency, 615751; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CA5A",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:14:08.373351+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.; to: Well established gene-disease association with isolated agammaglobulinaemia. At least 3 families reported with associated GH deficiency, which is also treatable.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:13:42.641065+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BTK: Changed phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755, Isolated growth hormone deficiency, type III, with agammaglobulinaemia, MIM# 307200",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:13:18.884016+11:00",
"panel_name": "Predominantly Antibody Deficiency",
"panel_id": 222,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BTK.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:12:58.730581+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BTK.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:12:41.408617+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BTK as ready",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:12:41.398549+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: btk has been classified as Green List (High Evidence).",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:12:35.707773+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BTK.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:12:25.672045+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BTK: Well established gene-disease association.\r\n\r\nChildhood onset.\r\n\r\nTreatable with IVIG.",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:11:53.740264+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia, X-linked 1, MIM# 300755; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:55.059882+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCS1L as ready",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:55.048451+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Red List (Low Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:48.876968+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.288",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BCS1L were changed from Complex 3 deficiency to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:37.622490+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCS1L as Red List (low evidence)",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:37.610279+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.287",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcs1l has been classified as Red List (Low Evidence).",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:10:24.858946+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Bjornstad syndrome, MIM# 262000, Leigh syndrome, MIM# 256000, BCS1L-related mitochondrial disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:08:30.531136+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCKDK as ready",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:08:30.520820+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bckdk has been classified as Green List (High Evidence).",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:08:21.697260+11:00",
"panel_name": "Disorders of branched chain amino acid metabolism",
"panel_id": 3929,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDK.",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:08:03.530543+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDK.",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:07:36.517502+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: BCKDK.",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:07:27.425833+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: BCKDK: Confirmatory non-genetic testing: serum amino acids, urine organic acids",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:06:38.118939+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCKDK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:05:22.859075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: BCHE.",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:05:13.561137+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BCHE",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:03:18.809799+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUH as ready",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:03:18.795309+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Red List (Low Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:03:15.518447+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.286",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I to 3-methylglutaconic aciduria, type I , MIM#250950",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:02:57.625253+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUH as Red List (low evidence)",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:02:57.616451+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.285",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auh has been classified as Red List (Low Evidence).",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:02:46.019853+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type I 250950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:01:24.179342+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCOLN1 as ready",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:01:24.171017+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Red List (Low Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:01:20.342221+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCOLN1 were changed from Mucolipidosis IV to Mucolipidosis IV, MIM# 252650",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:00:57.576056+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCOLN1 as Red List (low evidence)",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T19:00:57.566198+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mcoln1 has been classified as Red List (Low Evidence).",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:59:47.419315+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SHOX as ready",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:59:47.405804+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:59:43.750337+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SHOX as Green List (high evidence)",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:59:43.740800+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: shox has been classified as Green List (High Evidence).",
"entity_name": "SHOX",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:50.945995+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC10A7 as ready",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:50.937590+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:47.094428+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC10A7 as Green List (high evidence)",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:47.086236+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc10a7 has been classified as Green List (High Evidence).",
"entity_name": "SLC10A7",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:06.280121+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC29A3 as ready",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:06.266429+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:01.785598+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC29A3 as Green List (high evidence)",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:58:01.775414+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc29a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:57:18.916958+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:57:18.896049+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:50:36.553742+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD4 as Green List (high evidence)",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:50:36.545843+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:59.036938+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCAL1 as ready",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:59.022468+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:53.850552+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCAL1 as Green List (high evidence)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:53.842106+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcal1 has been classified as Green List (High Evidence).",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:12.239527+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX15 as ready",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:12.231668+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx15 has been classified as Green List (High Evidence).",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:08.188229+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBX15 as Green List (high evidence)",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:49:08.179588+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx15 has been classified as Green List (High Evidence).",
"entity_name": "TBX15",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:46:38.046834+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7B as ready",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:46:38.038228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Green List (High Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:46:33.770323+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.282",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7B were changed from Wilson disease to Wilson disease MIM#277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:46:19.360511+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ATP7B.",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:46:10.380788+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease MIM#277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:45:00.909350+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:44:45.945883+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:44:18.273406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:44:04.750521+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:44:04.742060+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:44:02.666711+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASL were changed from Argininosuccinic aciduria, 207900 to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:43:51.587201+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASL were set to 31332722",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:43:39.079975+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Intellectual disability is a feature of this metabolic condition. \nSources: Expert list; to: Trichorrhexis nodosa; dry brittle hair.\r\nSources: Expert list",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:42:45.625870+11:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:41:47.266680+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:41:28.139532+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:40:44.633245+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:40:32.940588+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ASL.",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:40:24.695058+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASL as ready",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:40:24.685761+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: asl has been classified as Green List (High Evidence).",
"entity_name": "ASL",
"entity_type": "gene"
}
]
}