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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=263",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=261",
"results": [
{
"created": "2025-04-23T20:36:03.922941+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:36:03.914821+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:35:54.996226+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IBA57 were changed from Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive to Multiple mitochondrial dysfunctions syndrome 3 MIM#615330",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:35:41.576396+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IBA57 were set to ",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:35:08.137237+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HYLS1 as ready",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:35:08.130409+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hyls1 has been classified as Green List (High Evidence).",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:35:05.268714+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HYLS1 were changed from Hydrolethalus syndrome, 236680 (3) to Hydrolethalus syndrome (MIM#236680)",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:34:54.870767+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HYLS1 were set to ",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:34:25.225934+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPD1 as ready",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:34:25.216055+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspd1 has been classified as Green List (High Evidence).",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:34:21.875218+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPD1 were changed from Leukodystrophy, hypomyelinating, 4, 612233 (3) to Leukodystrophy, hypomyelinating, 4 MIM#612233",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:34:09.871881+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPD1 were set to ",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:33:32.170898+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HSD3B7: Changed publications: 27604308",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:33:24.934170+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSD3B7 as ready",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:33:24.927558+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsd3b7 has been classified as Green List (High Evidence).",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:33:18.431418+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSD3B7 were set to ",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:33:03.192283+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSD3B7 were changed from Bile acid synthesis defect, congenital, 1, 607765 (3) to Bile acid synthesis defect, congenital, 1 MIM#607765",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:32:48.987593+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HSD3B7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid synthesis defect, congenital, 1 MIM#607765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:30:40.865952+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS3 as ready",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:30:40.858970+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps3 has been classified as Green List (High Evidence).",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:27:52.312433+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3, 614072 (3) to Hermansky-Pudlak syndrome 3 MIM#614072",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:27:40.808308+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS3 were set to ",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:27:05.995398+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HAMP as ready",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:27:05.988811+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hamp has been classified as Green List (High Evidence).",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:27:01.355638+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HAMP were changed from Hemochromatosis, type 2B, 613313 (3) to Haemochromatosis, type 2B MIM#613313",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:26:46.098281+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAMP were set to ",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:26:10.855365+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADH as ready",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:26:10.846678+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadh has been classified as Green List (High Evidence).",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:26:07.028391+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HADH were changed from 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3) to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:25:54.881301+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HADH were set to ",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:24:34.381394+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GM2A as ready",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:24:34.368303+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gm2a has been classified as Green List (High Evidence).",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:24:31.169859+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GM2A were changed from GM2-gangliosidosis, AB variant, 272750 (3) to GM2-gangliosidosis, AB variant MIM #272750",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:24:15.655337+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GM2A were set to ",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:23:32.022081+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLDN as ready",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:23:32.011472+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gldn has been classified as Green List (High Evidence).",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:23:28.355705+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLDN were changed from Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive to Lethal congenital contracture syndrome 11 MIM#617194",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:23:16.997980+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1921",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLDN were set to ",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:22:35.408708+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FYCO1 as ready",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:22:35.402319+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fyco1 has been classified as Green List (High Evidence).",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:22:32.209088+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1920",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FYCO1 were changed from Cataract 18, autosomal recessive, 610019 (3) to Cataract 18, MIM#610019",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:22:16.462230+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FYCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 18, MIM#610019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FYCO1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:21:24.707176+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FTSJ1 as ready",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:21:24.700503+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ftsj1 has been classified as Green List (High Evidence).",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:21:21.312530+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1919",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FTSJ1 were changed from Mental retardation, X-linked 9, 309549 (3) to Intellectual developmental disorder, X-linked 9 MIM#309549",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:21:05.280639+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1918",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FTSJ1 were set to ",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:20:32.276440+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FRAS1 as ready",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:20:32.266070+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fras1 has been classified as Green List (High Evidence).",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:20:21.549276+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1917",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FRAS1 were changed from Fraser syndrome, 219000 (3) to Fraser syndrome 1 MIM#219000",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:20:09.129773+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FRAS1 were set to ",
"entity_name": "FRAS1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:19:27.384931+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLAD1 as ready",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:19:27.378859+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flad1 has been classified as Green List (High Evidence).",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:19:23.876259+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLAD1 were changed from Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, 255100 (3), Autosomal recessive to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:19:11.000072+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLAD1 were set to ",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:18:54.321171+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLAD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34454814, 34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219; Phenotypes: Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:17:04.043904+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP14 as ready",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:17:04.037404+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:16:58.046309+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP14 were changed from Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, 614557 (3) to Ehlers-Danlos syndrome, kyphoscoliotic type, 2 MIM#614557",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:16:03.891535+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKBP14 were set to ",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:15:34.025319+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FHL1 as ready",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:15:34.015480+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fhl1 has been classified as Green List (High Evidence).",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:15:29.661331+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FHL1 were changed from Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3) to Reducing body myopathy MONDO:0019948; X-linked Emery-Dreifuss muscular dystrophy MONDO:0010680",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:15:20.388225+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FHL1 were set to ",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:15:10.291699+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FHL1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "FHL1",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:13:57.047205+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGD4 as ready",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:13:57.037427+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgd4 has been classified as Green List (High Evidence).",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:13:43.692241+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGD4 were changed from Charcot-Marie-Tooth disease, type 4H, 609311 (3) to Charcot-Marie-Tooth disease, type 4H MIM#609311; Charcot-Marie-Tooth disease MONDO:0015626",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:13:30.095286+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGD4 were set to ",
"entity_name": "FGD4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:12:31.824696+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCL as ready",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:12:31.816134+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancl has been classified as Green List (High Evidence).",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:12:25.918964+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCL were changed from Fanconi anemia, complementation group L, 614083 (3) to Fanconi anaemia, complementation group L MIM#614083",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:12:03.610582+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCL were set to ",
"entity_name": "FANCL",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:11:32.743149+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCD2 as ready",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:11:32.735925+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancd2 has been classified as Green List (High Evidence).",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:11:16.066409+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCD2 were changed from Fanconi anemia, complementation group D2, 227646 (3) to Fanconi anaemia, complementation group D2 MIM#227646",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:11:02.818863+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCD2 were set to ",
"entity_name": "FANCD2",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:10:22.638406+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ERCC4 as ready",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:10:22.630984+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ercc4 has been classified as Green List (High Evidence).",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:10:18.556794+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERCC4 were changed from Fanconi anemia, complementation group Q, 615272 (3) to Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215; XFE progeroid syndrome, MIM# 610965 MONDO:0012590",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-04-23T20:10:00.639891+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272 MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760 MONDO:0010215, XFE progeroid syndrome, MIM# 610965 MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERCC4",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:14:18.379805+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DOLK as ready",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:14:18.372450+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dolk has been classified as Green List (High Evidence).",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:14:15.181509+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im, 610768 (3) to Congenital disorder of glycosylation, type Im, MIM# 610768",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:14:03.587640+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DOLK were set to ",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:13:52.291687+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273964, 22242004, 23890587, 30653653, 28816422, 24144945; Phenotypes: Congenital disorder of glycosylation, type Im, MIM# 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DOLK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:04:04.555551+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL11A2 as ready",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:04:04.550220+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Deafness currently out of scope for this panel.",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:04:04.518671+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col11a2 has been classified as Green List (High Evidence).",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:03:53.583975+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL11A2 were changed from Fibrochondrogenesis 2, 614524 (3) to Fibrochondrogenesis 2 MIM#614524",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:03:37.854977+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL11A2 were set to ",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:01:09.308368+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGK as ready",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:01:09.300819+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agk has been classified as Green List (High Evidence).",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:01:06.598460+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGK were changed from Sengers syndrome, 212350 (3) to Sengers syndrome, MIM#212350",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-04-23T19:00:53.764488+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sengers syndrome, MIM#212350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:57:43.866227+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781; {Polycystic kidney disease 9, susceptibility to} MIM#621164; Cranioectodermal dysplasia 5, MIM# 621180",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:57:23.114528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to 34890546; 22503633; 23418020; 28288023; 28724397; 26216056; 26968735",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:56:57.369442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT140: Added comment: Four unrelated families reported with biallelic variants and a cranioectrodermal dysplasia phenotype, part of the ciliopathy spectrum.; Changed publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735, 32007091, 35873489, 37628605; Changed phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781, {Polycystic kidney disease 9, susceptibility to} MIM#621164, Cranioectodermal dysplasia 5, MIM# 621180",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:56:00.176107+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant; Cranioectodermal dysplasia 5, MIM# 621180 to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant; Cranioectodermal dysplasia 5, MIM# 621180",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:55:47.968215+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT140 were changed from Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; MONDO:0009964; Retinitis pigmentosa 80, MIM# 617781; Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant; Cranioectodermal dysplasia 5, MIM# 621180",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2025-04-23T17:55:11.124521+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IFT140 were set to 22503633; 23418020; 28288023; 28724397; 26216056; 26968735; 34890546",
"entity_name": "IFT140",
"entity_type": "gene"
}
]
}