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{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=85",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=83",
"results": [
{
"created": "2025-12-17T09:41:06.150722+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.294",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37423-Gain was added\nRegion: ISCA-37423-Gain was added to Clefting disorders. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37423-Gain.\nMode of inheritance for Region: ISCA-37423-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Gain were set to 26097203; 25520754\nPhenotypes for Region: ISCA-37423-Gain were set to 8p23.1 duplication syndrome; intellectual disability; congenital heart disease",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T09:40:25.640736+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:40:25.629477+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:40:22.877543+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:39:47.303770+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:39:10.201939+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:32:32.977581+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A2 as ready",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:32:32.969856+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:32:29.885336+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:31:19.915905+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A2 were set to ",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:30:37.262456+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:29:14.404692+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SFXN4 as ready",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:29:14.394428+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sfxn4 has been classified as Green List (High Evidence).",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:29:11.865291+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:28:31.376412+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SFXN4 were set to ",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:27:56.074464+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:26:54.694321+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119684, 31059822; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SFXN4",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:25:41.943569+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:25:41.933296+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:25:30.967606+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:24:50.639963+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERAC1 were set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:24:11.888821+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:22:55.911075+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHA as ready",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:22:55.898615+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Green List (High Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:22:38.218903+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.509",
"user_name": "Sarah Milton",
"item_type": "panel",
"text": "Copied Region ISCA-37421-Loss from panel Common deletion and duplication syndromes",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-17T09:22:37.785178+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.509",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37421-Loss was added\nRegion: ISCA-37421-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37421-Loss.\nMode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37421-Loss were set to 32655619\nPhenotypes for Region: ISCA-37421-Loss were set to Chromosome 1q21.1 deletion syndrome, MIM#\t612474; intellectual disability; microcephaly; congenital anomalies",
"entity_name": "ISCA-37421-Loss",
"entity_type": "region"
},
{
"created": "2025-12-17T09:22:30.549509+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:21:52.356616+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHA were set to ",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:21:07.859569+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:20:02.583917+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCO2 as ready",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:20:02.575074+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sco2 has been classified as Green List (High Evidence).",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:19:58.319283+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:19:24.784453+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCO2 were set to ",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:18:31.073195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:17:52.929991+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 11673586, 18924171, 20159436; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:15:49.954978+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SARS2 as ready",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:15:49.946817+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sars2 has been classified as Green List (High Evidence).",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:15:45.856223+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:13:18.641025+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SARS2 were set to ",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:12:31.558239+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:10:45.626456+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:10:45.615539+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Green List (High Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:10:37.579264+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:09:58.714438+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RTN4IP1 were set to ",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:09:04.758939+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:08:28.223838+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2025-12-16T20:20:22.104491+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13D as ready",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2025-12-16T20:20:22.095701+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13d has been classified as Green List (High Evidence).",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2025-12-16T20:19:43.587215+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene VPS13D from panel Mendeliome",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T20:19:41.806384+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1299",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS13D was added\ngene: VPS13D was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13D were set to 29604224; 29518281\nPhenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317",
"entity_name": "VPS13D",
"entity_type": "gene"
},
{
"created": "2025-12-16T20:15:58.352162+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TKFC: Changed publications: 32004446, 38697782",
"entity_name": "TKFC",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:27:27.759491+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: THG1L.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:27:15.447551+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.508",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THG1L: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800; Mode of inheritance: None",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:26:48.280152+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: THG1L.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:26:39.217245+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THG1L: Changed rating: AMBER",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:26:30.808726+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.309",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: THG1L: LIMITED by ClinGen. Founder.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:26:01.192812+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THG1L as Amber List (moderate evidence)",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:26:01.182295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thg1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:25:41.381061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: THG1L.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:25:30.283834+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THG1L: Changed rating: AMBER",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:25:22.007758+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: THG1L: LIMITED by ClinGen. Founder variant.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:24:59.582695+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THG1L were changed from Cerebellar ataxia with developmental delay to Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:24:39.514072+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: THG1L.",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:24:29.823495+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THG1L: Changed phenotypes: Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:24:09.093691+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: THG1L as Amber List (moderate evidence)",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:24:09.086372+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thg1l has been classified as Amber List (Moderate Evidence).",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:23:53.053493+11:00",
"panel_name": "Ataxia",
"panel_id": 271,
"panel_version": "1.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: THG1L: Added comment: LIMITED by ClinGen. Founder variant.; Changed rating: AMBER",
"entity_name": "THG1L",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:48.663387+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPV3L1 as ready",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:48.656169+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supv3l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:38.442388+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPV3L1 as ready",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:38.429080+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supv3l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:26.389547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPV3L1 as ready",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:20:26.379536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supv3l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:19:12.859227+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUPV3L1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T19:19:12.674138+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPV3L1 was added\ngene: SUPV3L1 was added to Regression. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPV3L1 were set to 39596606; 35023579\nPhenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:18:32.621255+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUPV3L1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T19:18:32.385594+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPV3L1 was added\ngene: SUPV3L1 was added to Optic Atrophy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPV3L1 were set to 39596606; 35023579\nPhenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:17:52.056910+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUPV3L1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T19:17:50.902829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPV3L1 was added\ngene: SUPV3L1 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPV3L1 were set to 39596606; 35023579\nPhenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:16:52.980705+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUPV3L1 as ready",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:16:52.970442+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supv3l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:16:42.344233+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SUPV3L1 as Amber List (moderate evidence)",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T19:16:42.334045+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1298",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: supv3l1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:25:19.949697+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1297",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUPV3L1 was added\ngene: SUPV3L1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUPV3L1 were set to 39596606; 35023579\nPhenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970\nReview for gene: SUPV3L1 was set to AMBER\nAdded comment: PMID 35023579 reports two siblings from a consanguineous Omani family with a homozygous truncating SUPV3L1 variant (c.2215C>T, p.Gln739*). PMID 39596606 reports one individual with compound heterozygous splice (c.272-2A>G) and missense (c.1924A>C, p.Ser642Arg) SUPV3L1 variants. All three patients present with early‑onset neurodegenerative mitochondrial disease characterized by progressive spasticity/ataxia, optic atrophy, skin hypopigmentation, lactate elevation and neurodegeneration. Limited functional data. \nSources: Literature",
"entity_name": "SUPV3L1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:22:36.914425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG2 as ready",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:22:36.906687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg2 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:22:24.233692+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3800",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SUCLG2 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:22:23.149777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLG2 was added\ngene: SUCLG2 was added to Mendeliome. Sources: Expert Review Red,Literature\nMode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUCLG2 were set to 33484326\nPhenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:22:00.640254+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG2 as ready",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:22:00.631290+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg2 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:21:54.628575+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1296",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUCLG2 was added\ngene: SUCLG2 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SUCLG2 were set to 33484326\nPhenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970\nReview for gene: SUCLG2 was set to RED\nAdded comment: PMID 33484326 reports 3 individuals from 3 unrelated families with a heterozygous nonsense c.235G>T (p.Glu79*) variant in SUCLG2 presenting with MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes). No functional or segregation data are provided. Note 3 hets in gnomAD v4, hence RED rating. \nSources: Literature",
"entity_name": "SUCLG2",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:19:16.105401+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMDT1 as ready",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:19:16.094931+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smdt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:19:05.190143+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMDT1 as ready",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:19:05.179848+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smdt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:56.104706+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SMDT1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:18:55.954367+11:00",
"panel_name": "Rhabdomyolysis and Metabolic Myopathy",
"panel_id": 3084,
"panel_version": "1.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMDT1 was added\ngene: SMDT1 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMDT1 were set to 37454773\nPhenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:39.195711+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Copied gene SMDT1 from panel Mitochondrial disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2025-12-16T18:18:38.590560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.3799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMDT1 was added\ngene: SMDT1 was added to Mendeliome. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMDT1 were set to 37454773\nPhenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related",
"entity_name": "SMDT1",
"entity_type": "gene"
},
{
"created": "2025-12-16T18:18:14.833966+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1295",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMDT1 as ready",
"entity_name": "SMDT1",
"entity_type": "gene"
}
]
}