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{
"count": 220694,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=120",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=118",
"results": [
{
"created": "2025-11-21T10:00:02.952159+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.431",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added reviews for gene CACNA1A from panel Genetic Epilepsy",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T09:58:32.470994+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, MIM# 617106 to Developmental and epileptic encephalopathy 42, MIM# 617106; Episodic ataxia, type 2 MIM#108500",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:57:42.068602+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:57:16.666425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 27476654, 36063114; Phenotypes: Developmental and epileptic encephalopathy 42, MIM# 617106; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:55:46.136833+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:55:16.622231+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1A: Added comment: PMID 36063114: further evidence for bi-alleic association. Summarises 10 individuals from 5 families.; Changed publications: 27476654, 36063114",
"entity_name": "CACNA1A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:58.963882+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN3 as ready",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:58.956562+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln3 has been classified as Green List (High Evidence).",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:57.200118+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLN3 were changed from Ceroid lipofuscinosis, neuronal, 3 204200 to Ceroid lipofuscinosis, neuronal, 3 MIM#204200",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:48.177141+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN3 were set to ",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:33.280428+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 3 MIM#204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:00.924696+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN5 as ready",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:34:00.917297+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln5 has been classified as Green List (High Evidence).",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:57.483965+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN5 were set to ",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:41.100455+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, MIM# 256731; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:08.826305+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN6 as ready",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:33:08.815218+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln6 has been classified as Green List (High Evidence).",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:32:49.902789+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN6 were set to ",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:32:33.672882+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, Kufs type, adult onset MIM#204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:55.482116+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLN8 as ready",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:55.470858+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cln8 has been classified as Green List (High Evidence).",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:52.724105+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLN8 were set to ",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:31:39.101334+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:10.599970+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPM2A as ready",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:10.592800+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epm2a has been classified as Green List (High Evidence).",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:30:07.135328+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPM2A were set to ",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:29:50.803456+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) MIM#254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPM2A",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:50.274948+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: HNF1B: LoF is the established mechanism of disease.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:38.315100+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNF1B as ready",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:38.305650+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnf1b has been classified as Green List (High Evidence).",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:34.703482+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HNF1B were changed from to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:28:12.587238+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HNF1B were set to ",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:49.658495+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HNF1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:26.236680+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: HNF1B.",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:27:17.107079+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HNF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Renal cysts and diabetes syndrome, MIM# 137920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:31.332536+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MUC1 as ready",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:31.319423+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: muc1 has been classified as Green List (High Evidence).",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:24.638545+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MUC1 were changed from to Medullary cystic kidney disease 1 (MIM#174000)",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:26:01.735695+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MUC1 were set to ",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:25:33.484040+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MUC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:25:08.369632+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag VNTR tag was added to gene: MUC1.",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:24:57.971239+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MUC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Medullary cystic kidney disease 1 (MIM#174000); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MUC1",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:43.416596+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UMOD as ready",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:43.399782+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: umod has been classified as Green List (High Evidence).",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:41.117326+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UMOD were changed from to Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:23:13.222243+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UMOD were set to ",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:22:40.252332+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UMOD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:22:17.382071+11:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UMOD: Rating: GREEN; Mode of pathogenicity: None; Publications: 40533238; Phenotypes: Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:18:18.675879+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC10 as ready",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:18:18.665958+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:18:06.057875+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC10 as ready",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:18:06.047876+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:17:31.578409+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EXOSC10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T09:17:31.203742+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC10 was added\ngene: EXOSC10 was added to Microcephaly. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXOSC10 were set to 41132091\nPhenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:16:52.620194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene EXOSC10 from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-11-21T09:16:52.261701+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EXOSC10 was added\ngene: EXOSC10 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EXOSC10 were set to 41132091\nPhenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:15:52.199029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EXOSC10 as ready",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:15:52.189407+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:15:38.355466+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EXOSC10 as Amber List (moderate evidence)",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T09:15:38.347648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: exosc10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EXOSC10",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:34:06.100950+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM2 as ready",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:34:06.093983+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm2 has been classified as Red List (Low Evidence).",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:33:24.656034+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM2 were set to ",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:33:02.092673+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNM2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:31:54.164971+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF21A as ready",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:31:54.157575+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif21a has been classified as Amber List (Moderate Evidence).",
"entity_name": "KIF21A",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:29:24.431162+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV4 as ready",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:29:24.421144+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv4 has been classified as Green List (High Evidence).",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:29:21.499704+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV4 were changed from to Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:28:51.128391+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:28:22.782941+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPV4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuronopathy, distal hereditary motor, autosomal dominant 8, MIM# 600175; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:25:18.881443+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPM3 as ready",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:25:18.871153+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpm3 has been classified as Green List (High Evidence).",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:25:16.060286+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPM3 were changed from to Congenital myopathy 4B, autosomal recessive, MIM# 609284",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:24:49.267235+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:24:22.773261+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 4B, autosomal recessive, MIM# 609284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPM3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:21:41.233766+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFB3 as ready",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:21:41.223606+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfb3 has been classified as Green List (High Evidence).",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:21:39.091750+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFB3 were changed from to Loeys-Dietz syndrome 5, MI# 615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:21:09.462881+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFB3 were set to ",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:20:45.979723+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:20:20.345242+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23824657; Phenotypes: Loeys-Dietz syndrome 5, MI# 615582; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:13:20.238279+11:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "1.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:12:29.916078+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR2 as ready",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:12:29.906259+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr2 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:12:27.833229+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR2 were changed from to Loeys-Dietz syndrome 2, MIM# 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:12:03.769273+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBR2 were set to ",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:11:41.179453+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:11:16.414296+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28163941; Phenotypes: Loeys-Dietz syndrome 2, MIM# 610168; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:09:35.878797+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGFBR1 as ready",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:09:35.869240+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgfbr1 has been classified as Green List (High Evidence).",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:09:32.131754+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGFBR1 were changed from to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:08:50.055567+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGFBR1 were set to ",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:08:20.380197+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGFBR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:07:48.512711+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35668506; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:05:24.783971+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SELENON as ready",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:05:24.776500+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: selenon has been classified as Green List (High Evidence).",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:05:22.164664+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SELENON were changed from to Congenital myopathy 3 with rigid spine, MIM# 602771",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:04:32.370207+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SELENON were set to ",
"entity_name": "SELENON",
"entity_type": "gene"
},
{
"created": "2025-11-21T08:03:52.082633+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SELENON: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642275; Phenotypes: Congenital myopathy 3 with rigid spine, MIM# 602771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SELENON",
"entity_type": "gene"
}
]
}