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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=308",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=306",
"results": [
{
"created": "2025-01-17T10:47:43.846299+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGKE as ready",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:47:43.834708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dgke has been classified as Green List (High Evidence).",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:47:40.436927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1096",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGKE were changed from Nephrotic syndrome, type 7, 615008 (3) to Nephrotic syndrome, type 7, MIM# 615008",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:47:28.675203+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1095",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGKE were set to ",
"entity_name": "DGKE",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:46:57.109873+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DGUOK as ready",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:46:57.096491+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dguok has been classified as Green List (High Evidence).",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:46:50.347755+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1094",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGUOK were changed from Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3) to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM#251880",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:46:02.722023+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1093",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DGUOK were set to ",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:45:22.924667+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL7A1 as ready",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:45:22.907824+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col7a1 has been classified as Green List (High Evidence).",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:45:18.689904+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1092",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL7A1 were changed from Epidermolysis bullosa dystrophica, AR, 226600 (3) to Epidermolysis bullosa dystrophica, MIM#226600",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:44:59.765556+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1091",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL7A1 were set to ",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:44:15.025056+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL12RB1 as ready",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:44:15.000586+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il12rb1 has been classified as Green List (High Evidence).",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:44:11.999752+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1090",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL12RB1 were changed from Immunodeficiency 30, 614891 (3) to Immunodeficiency 30, MIM#614891",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:43:59.287668+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1089",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL12RB1 were set to ",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:43:45.020840+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IL12RB1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 30, MIM# 614891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:41:43.355696+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS as ready",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:41:43.346762+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars has been classified as Green List (High Evidence).",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:41:26.316756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1088",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS were set to ",
"entity_name": "DARS",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:41:04.070182+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCHS1 as ready",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:41:04.052401+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dchs1 has been classified as Green List (High Evidence).",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:38:32.726541+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1087",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCHS1 were set to ",
"entity_name": "DCHS1",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:06:08.529368+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-01-17T10:01:43.942414+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DDX11 as ready",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:01:43.914993+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ddx11 has been classified as Green List (High Evidence).",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:01:30.346524+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1086",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX11 were changed from Warsaw breakage syndrome, 613398 (3) to Warsaw breakage syndrome, MIM#613398",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:01:09.022470+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1085",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DDX11 were set to ",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2025-01-17T10:00:17.625079+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: ISCA1.",
"entity_name": "ISCA1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:59:29.263943+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARB2 as ready",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:59:29.248903+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarb2 has been classified as Green List (High Evidence).",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:59:19.464574+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1084",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARB2 were changed from Epilepsy, progressive myoclonic 4, with or without renal failure, 254900 (3) to Epilepsy, progressive myoclonic 4, with or without renal failure, MIM#254900",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:59:04.265529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1083",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCARB2 were set to ",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:58:15.715479+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAI2 as ready",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:58:15.698411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnai2 has been classified as Green List (High Evidence).",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:57:48.512161+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1082",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNAI2 were changed from Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 (3) to Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM#612444",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:57:34.389199+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1081",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAI2 were set to ",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:57:04.368514+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNAI2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAI2",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:54:30.788560+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2B1 as ready",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:54:30.776051+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2b1 has been classified as Green List (High Evidence).",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:54:27.440823+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1080",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2B1 were changed from Leukoencephalopathy with vanishing white matter, 603896 (3) to Leukoencephalopathy with vanishing white matter 1, with or without ovarian failure MIM#603896",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:54:15.967411+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1079",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2B1 were set to ",
"entity_name": "EIF2B1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:53:44.164601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ITPR1 as ready",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:53:44.146081+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: itpr1 has been classified as Green List (High Evidence).",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:53:40.974338+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1078",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ITPR1 were changed from Gillespie syndrome, 206700 (3), Autosomal recessive to Gillespie syndrome, MIM#206700",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:53:24.463529+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1077",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ITPR1 were set to ",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:52:37.797069+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DPAGT1 as ready",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:52:37.770927+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dpagt1 has been classified as Green List (High Evidence).",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:52:33.829936+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1076",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPAGT1 were changed from Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3) to Congenital disorder of glycosylation, type Ij, MIM# 608093; DPAGT1-CDG MONDO:0011964; Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM 614750",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:52:14.383286+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1075",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DPAGT1 were set to ",
"entity_name": "DPAGT1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:50:22.356395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUMF1 as ready",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:50:22.345601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sumf1 has been classified as Green List (High Evidence).",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:50:14.999732+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1074",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUMF1 were changed from Multiple sulfatase deficiency, 272200 (3) to Multiple sulfatase deficiency, MIM#272200",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:49:46.735106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1073",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUMF1 were set to ",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:49:03.630586+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:49:03.618763+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:49:00.586544+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1072",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from Barth syndrome, 302060 (3) to Barth syndrome (MIM# 302060)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:48:49.120374+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAZ were set to ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:48:23.507060+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ENPP1 as ready",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:48:23.494821+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: enpp1 has been classified as Green List (High Evidence).",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:48:20.264785+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ENPP1 were changed from Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3) to Arterial calcification, generalized, of infancy, 1 MIM#208000; Hypophosphatemic rickets, autosomal recessive, 2 MIM#613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:48:08.868021+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1069",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ENPP1 were set to ",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:46:19.151143+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EDAR as ready",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:46:19.136184+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: edar has been classified as Green List (High Evidence).",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:46:15.210316+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EDAR were changed from Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, 224900 (3) to autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:45:56.578497+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EDAR were set to ",
"entity_name": "EDAR",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:44:34.799613+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EIF2S3 as ready",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:44:34.790451+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eif2s3 has been classified as Green List (High Evidence).",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:44:30.768492+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EIF2S3 were changed from MEHMO syndrome, 300148 (3), X-linked recessive to MEHMO syndrome, MIM# 300148",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:44:16.333291+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EIF2S3 were set to ",
"entity_name": "EIF2S3",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:39:14.370486+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM7 as ready",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:39:14.359155+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:39:07.167625+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:39:07.144365+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:38:33.403926+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:38:33.392092+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:37:28.488278+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM7 was added\ngene: TRPM7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563; 37188671\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related\nReview for gene: TRPM7 was set to GREEN\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\nPMID 37188671: mouse model investigating role in HypoMg and seizure-related death. \nSources: Literature",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:36:36.907522+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:36:18.281421+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM7: Added comment: PMID 37188671: mouse model investigating role in HypoMg and seizure-related death.; Changed publications: 35561741, 35712613, 39099563, 37188671",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:31:12.611778+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM7 as ready",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:31:12.600228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:30:47.289198+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM7 were changed from Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related to Familial primary hypomagnesaemia, MONDO:0018100, TRPM7-related",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:30:04.822589+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:30:04.794907+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:28:52.543197+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM7 was added\ngene: TRPM7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related\nReview for gene: TRPM7 was set to GREEN\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures. \nSources: Literature",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:25:41.359379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:25:41.349004+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:25:21.581873+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\n\r\nOverall, Green for association with HypoMg.\r\n\r\nRed for ALS and stillbirth.",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:24:35.520895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM7: Added comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa. PMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant. PMID 35712613: de novo missense variant in an individual with hypoMg. PMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.; Changed rating: GREEN; Changed publications: 32503408, 31423533, 35561741, 35712613, 39099563; Changed phenotypes: Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related, {Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, MIM# 105500, Cardiac arrhythmia, stillbirth",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:22:16.538460+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM7 as ready",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:22:16.524059+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:22:11.418615+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM7 as Green List (high evidence)",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:22:11.404406+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm7 has been classified as Green List (High Evidence).",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:21:58.250745+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. \nSources: Expert Review; to: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. Probands had DD, two had seizures.\r\nSources: Expert Review",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:21:16.403013+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PYROXD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30345904, 30515627, 27745833, 33694278; Phenotypes: Myopathy, myofibrillar, 8 MIM#617258; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PYROXD1",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:20:56.514750+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRPM7: Changed rating: GREEN",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T09:20:34.105849+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM7 was added\ngene: TRPM7 was added to Renal Tubulopathies and related disorders. Sources: Expert Review\nMode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM7 were set to 35561741; 35712613; 39099563\nPhenotypes for gene: TRPM7 were set to Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related\nAdded comment: Protein expressed in the distal tubule, related to TRPM6. Postulated link with hypoMg with secondary hypoCa.\r\nPMID 35561741: two families reported with dominant inheritance. F1: three affected individuals with splicing variant; some supportive functional data. F2: single affected individual, de novo missense variant.\r\nPMID 35712613: de novo missense variant in an individual with hypoMg.\r\nPMID 39099563: three affected individuals with missense variants, all de novo. \nSources: Expert Review",
"entity_name": "TRPM7",
"entity_type": "gene"
},
{
"created": "2025-01-17T08:42:21.290340+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.305",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 22444671, 31535386, 30023290, 29473937, 28371479, 25706356; Phenotypes: CHIME syndrome MIM#280000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGL",
"entity_type": "gene"
},
{
"created": "2025-01-17T08:37:27.741531+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301527, 9326939, 9326940; Phenotypes: Refsum disease MIM#266500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHYH",
"entity_type": "gene"
},
{
"created": "2025-01-17T08:24:30.652266+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PEX16: Rating: GREEN; Mode of pathogenicity: None; Publications: 11890679, 9837814, 20647552, 20301621, 30078639; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger) MIM#614876, Peroxisome biogenesis disorder 8B MIM#614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX16",
"entity_type": "gene"
}
]
}