HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=84",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=82",
"results": [
{
"created": "2025-12-17T16:48:59.992748+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHC as ready",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:48:59.981855+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdhc has been classified as Red List (Low Evidence).",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:48:53.176376+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SDHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:46:18.811653+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NUP62 as ready",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:46:18.801472+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nup62 has been classified as Red List (Low Evidence).",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:45:08.355172+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATPAF2 as ready",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:45:08.344633+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atpaf2 has been classified as Red List (Low Evidence).",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:45:04.714195+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1375",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATPAF2 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:44:13.994479+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1374",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATPAF2 were set to ",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:43:34.315675+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1373",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATPAF2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:36:50.857515+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WARS2 as ready",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:36:50.847092+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wars2 has been classified as Green List (High Evidence).",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:36:48.230406+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1372",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WARS2 were changed from to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:36:05.152912+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1371",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WARS2 were set to ",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:35:29.505753+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1370",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WARS2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:34:43.510216+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UQCC2 as ready",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:34:43.499281+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: uqcc2 has been classified as Green List (High Evidence).",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:34:40.043923+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1369",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:33:59.202876+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UQCC2 were set to ",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:32:52.310218+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UQCC2",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:31:37.493567+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC19 as ready",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:31:37.482342+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:31:26.059972+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:30:50.329900+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC19 were set to ",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:30:10.091057+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1364",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:27:19.938170+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSFM as ready",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:27:19.927723+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:26:27.218704+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1363",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:25:52.063802+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1362",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSFM were set to ",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:25:16.487281+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1361",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:23:28.607900+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRNT1 as ready",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:23:28.601002+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trnt1 has been classified as Green List (High Evidence).",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:23:25.721960+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1360",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:22:46.841693+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523; 26494905",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:22:17.881796+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1359",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRNT1 were set to ",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:21:21.307419+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRNT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:17:48.893799+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:17:48.860785+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Green List (High Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:17:20.966822+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:16:37.067461+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMU were set to 19732863",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:16:03.754618+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMU were set to ",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:15:16.996762+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:14:43.743682+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:13:50.712711+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT10C as ready",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:13:50.706140+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10c has been classified as Green List (High Evidence).",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:13:45.424549+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10C were changed from Combined oxidative phosphorylation deficiency 30, MIM# 616974 to Combined oxidative phosphorylation deficiency 30, MIM# 616974",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:13:14.456319+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:12:23.503390+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT10C were set to 27132592; 33886802",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:11:45.608765+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT10C were set to ",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:10:50.471859+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIT1 as ready",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:10:50.460604+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trit1 has been classified as Green List (High Evidence).",
"entity_name": "TRIT1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:10:29.685251+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T16:10:29.677756+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:59:47.947838+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:59:14.420742+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPK1 were set to ",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:58:33.273103+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:57:48.150921+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM70 as ready",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:57:48.141022+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem70 has been classified as Green List (High Evidence).",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:57:45.341872+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:57:07.837185+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TMEM70 were set to ",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:56:31.029959+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM70",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:55:41.748554+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TIMM8A as ready",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:55:41.740866+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: timm8a has been classified as Green List (High Evidence).",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:55:38.416624+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome, MIM# 304700",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:55:04.193596+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1341",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TIMM8A were set to ",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:54:11.281027+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1340",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:53:32.391821+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.; to: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.\r\n\r\nComponent of the inner mitochondrial membrane.",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:52:32.621593+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:52:32.610721+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:52:29.554023+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1339",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:51:41.760226+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1338",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:51:02.962007+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1337",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:50:18.727459+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:50:18.720707+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:50:12.648944+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1336",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:49:48.823409+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.294",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "reviewed Region: ISCA-37423-Gain: Rating: ; Mode of pathogenicity: None; Publications: PMID: 23345203; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ISCA-37423-Gain",
"entity_type": "region"
},
{
"created": "2025-12-17T09:49:36.967524+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1335",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to ",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:48:54.985055+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:48:12.288469+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:48:12.277919+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Green List (High Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:48:09.045847+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:47:30.827483+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SUCLA2 were set to ",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:46:55.943395+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:46:01.966717+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A19 as ready",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:46:01.956140+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a19 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:45:59.046274+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:45:22.424689+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A19 were set to ",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:44:38.015875+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:43:45.293701+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:43:45.283803+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:43:42.629085+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:43:06.068374+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to 26870663; 31527857; 31808147; 23561848; 23393310",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:42:40.401633+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.1325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2025-12-17T09:42:32.717533+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"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": "2025-12-17T09:42:29.540400+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.510",
"user_name": "Sarah Milton",
"item_type": "entity",
"text": "Region: ISCA-37423-Gain was added\nRegion: ISCA-37423-Gain was added to Intellectual disability syndromic and non-syndromic. 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": "2025-12-17T09:41:47.059114+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.512",
"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": "2025-12-17T09:41:46.877377+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
}
]
}