{"count":220493,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=85","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=83","results":[{"created":"2025-12-17T09:41:46.877377+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1324","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2025-12-17T09:41:46.872219+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.512","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37423-Gain was added\nRegion: ISCA-37423-Gain was added to Congenital Heart Defect. 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":"2025-12-17T09:41:09.528353+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.1323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"SLC25A1","entity_type":"gene"},{"created":"2025-12-17T09:41:06.221275+11:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.294","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37423-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"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}]}