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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=309",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=307",
"results": [
{
"created": "2025-01-17T07:54:52.306822+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-01-17T07:52:58.120178+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:43:17.961186+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ELP1 as ready",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:43:17.947446+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elp1 has been classified as Green List (High Evidence).",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:43:14.497418+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1064",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ELP1 were changed from Dysautonomia, familial, 223900 (3) to Dysautonomia, familial MIM#223900; Hereditary sensory and autonomic neuropathy type III (HSAN3)",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:43:02.884747+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1063",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ELP1 were set to ",
"entity_name": "ELP1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:42:37.542711+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EOGT as ready",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:42:37.522989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eogt has been classified as Green List (High Evidence).",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:42:33.807956+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1062",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EOGT were changed from Adams-Oliver syndrome 4, 615297 (3) to Adams-Oliver syndrome 4, MIM#615297",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:42:21.785801+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1061",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EOGT were set to ",
"entity_name": "EOGT",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:41:29.703388+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCE as ready",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:41:29.689458+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fance has been classified as Green List (High Evidence).",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:41:25.492991+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1060",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FANCE were changed from Fanconi anemia, complementation group E, 600901 (3) to Fanconi anaemia, complementation group E, MIM#600901",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:41:09.697153+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1059",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FANCE were set to ",
"entity_name": "FANCE",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:39:17.356381+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXN1 as ready",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:39:17.336137+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:39:12.440242+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1058",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXN1 were changed from T-cell immunodeficiency, congenital alopecia, and nail dystrophy, 601705 (3) to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MIM#601705",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:38:58.295724+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1057",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXN1 were set to ",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:25:59.895885+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJA1 as ready",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:25:59.880026+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gja1 has been classified as Green List (High Evidence).",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:25:54.620914+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1056",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GJA1 were changed from Hypoplastic left heart syndrome 1, 241550 (3) to Craniometaphyseal dysplasia, autosomal recessive MIM#218400; Oculodentodigital dysplasia, autosomal recessive MIM#257850",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:25:42.374109+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1055",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GJA1 were set to ",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:24:47.381012+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLIS3 as ready",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:24:47.366845+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glis3 has been classified as Green List (High Evidence).",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:24:43.963707+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1054",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS3 were changed from Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3) to Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:24:30.309708+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1053",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS3 were set to ",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:23:59.380289+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPSM2 as ready",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:23:59.370908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpsm2 has been classified as Green List (High Evidence).",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:23:56.012243+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1052",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPSM2 were changed from Chudley-McCullough syndrome, 604213 (3) to Chudley-McCullough syndrome, MIM#604213",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:23:35.880471+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1051",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPSM2 were set to ",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:22:59.986785+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1050",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHPR were set to 28569194; 10484776; 10484776; 24116921",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:21:34.017427+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSPG2 as ready",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:21:34.000751+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hspg2 has been classified as Green List (High Evidence).",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:21:30.826383+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1049",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HSPG2 were changed from Schwartz-Jampel syndrome, type 1, 255800 (3) to Schwartz-Jampel syndrome, type 1, MIM# 255800; Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:21:14.485657+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1048",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HSPG2 were set to ",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:20:42.496035+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBX22 as ready",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:20:42.482675+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbx22 has been classified as Red List (Low Evidence).",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:20:27.477273+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1047",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBX22 were set to ",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:20:10.737051+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TBX22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:18:48.489859+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IGHMBP2 as ready",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:18:48.479148+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ighmbp2 has been classified as Green List (High Evidence).",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:18:35.492942+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1046",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IGHMBP2 were changed from Neuronopathy, distal hereditary motor, type VI, 604320 (3) to Neuronopathy, distal hereditary motor, autosomal recessive 1 MIM#604320; Charcot-Marie-Tooth disease, axonal, type 2S MIM#616155",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:18:20.520532+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1045",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IGHMBP2 were set to ",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:54.266088+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IL10RB as ready",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:54.251988+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:38.235211+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1044",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: IL10RB were set to 22549091",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:09.976412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE2T as ready",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:09.961972+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube2t has been classified as Green List (High Evidence).",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:17:06.731363+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1043",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UBE2T were changed from Fanconi anemia, complementation group T, 616435 (3) to Fanconi anaemia, complementation group T, MIM#616435",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:16:50.917756+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1042",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UBE2T were set to ",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:16:03.930372+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KATNB1 as ready",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:16:03.913673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: katnb1 has been classified as Green List (High Evidence).",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:13:23.793442+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1041",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KATNB1 were changed from Lissencephaly 6, with microcephaly, 616212 (3) to Lissencephaly 6, with microcephaly, MIM#616212",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-01-16T19:13:12.696968+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1040",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KATNB1 were set to ",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:39:16.164288+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1039",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22142326; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency MIM#312170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:28:02.729922+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JUP as ready",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:28:02.708760+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jup has been classified as Green List (High Evidence).",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:27:59.624019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1039",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: ORC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 21358632, 22333897, 25691413, 26139588; Phenotypes: Meier-Gorlin syndrome 3 MIM#613803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:27:58.554817+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1039",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JUP were changed from Naxos disease, 601214 (3) to Naxos disease MIM#601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:27:46.455889+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1038",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JUP were set to ",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:26:35.284167+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDHA as ready",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:26:35.263846+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldha has been classified as Green List (High Evidence).",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:26:31.915033+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1037",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDHA were changed from Glycogen storage disease XI, 612933 (3) to Glycogen storage disease XI MIM#612933",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:26:19.650988+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1036",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDHA were set to ",
"entity_name": "LDHA",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:25:43.319316+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LAMA2 as ready",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:25:43.298032+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lama2 has been classified as Green List (High Evidence).",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:25:36.669694+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1035",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LAMA2 were changed from Muscular dystrophy, congenital merosin-deficient, 607855 (3) to Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855; Muscular dystrophy, limb-girdle, autosomal recessive 23, MIM# 618138",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:25:23.075964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1034",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LAMA2 were set to ",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:24:56.175549+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYB5R3 as ready",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:24:56.165437+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyb5r3 has been classified as Green List (High Evidence).",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:24:52.925979+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1033",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYB5R3 were changed from Methemoglobinemia, type I, 250800 (3) to Methemoglobinaemia, type II (MIM# 250800)",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:24:37.085725+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1032",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYB5R3 were set to ",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:21:52.095208+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALC as ready",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:21:52.085726+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galc has been classified as Green List (High Evidence).",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:21:41.157194+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1031",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALC were changed from Krabbe disease, 245200 (3) to Krabbe disease, MIM# 245200; MONDO:0009499",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:20:29.208415+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1030",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GALC were set to ",
"entity_name": "GALC",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:19:57.009136+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GORAB as ready",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:19:56.993830+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gorab has been classified as Green List (High Evidence).",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:19:48.510616+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1029",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GORAB were changed from Geroderma osteodysplasticum, 231070 (3) to Geroderma osteodysplasticum, MIM#231070; MONDO:0009271",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:19:29.702190+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1028",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GORAB were set to ",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:18:50.785800+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAOK2 as ready",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:18:50.767299+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Green List (High Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:11:15.790826+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAOK2 as Green List (high evidence)",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:11:15.770379+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Green List (High Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:10:39.917915+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAOK2 was added\ngene: TAOK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TAOK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TAOK2 were set to 39737487\nPhenotypes for gene: TAOK2 were set to neurodevelopmental disorder, MONDO:0700092, TAOK2-related\nReview for gene: TAOK2 was set to GREEN\nAdded comment: PMID:39737487 reported 10 individuals with monoallelic TAOK2 variants and with a neurodevelopmental disorder. \nSources: Literature",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:09:16.633831+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAOK2 were changed from Generalized verrucosis; abnormal T cell activation; autism to neurodevelopmental disorder, MONDO:0700092, TAOK2-related; Generalized verrucosis; abnormal T cell activation; autism",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:08:43.134022+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAOK2 were set to 28385331; 29467497",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:08:04.402154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TAOK2 as Green List (high evidence)",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:08:04.388967+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taok2 has been classified as Green List (High Evidence).",
"entity_name": "TAOK2",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:03:00.712027+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-01-16T17:03:00.698877+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:56:21.462752+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1027",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome1, 256520 (3) to Neu-Laxova syndrome 1 MIM#256520; Phosphoglycerate dehydrogenase deficiency MIM#601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:56:06.795698+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1026",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to ",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:55:36.909486+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLOD2 as ready",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:55:36.893880+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plod2 has been classified as Green List (High Evidence).",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:54:14.357918+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1025",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLOD2 were changed from Bruck syndrome 2, 609220 (3) to Bruck syndrome 2, MIM#609220",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:54:02.654650+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1024",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLOD2 were set to ",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:53:33.086155+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDCCAG8 as ready",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:53:33.068785+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdccag8 has been classified as Green List (High Evidence).",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2025-01-16T16:53:27.653376+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.1023",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, 615993 (3) to Bardet-Biedl syndrome 16 (MIM# 615993); Senior-Loken syndrome 7 (MIM# 613615)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
}
]
}