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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1066",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1064",
"results": [
{
"created": "2022-01-01T21:15:04.031868+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX5 were set to ",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:14:33.846629+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:14:04.749110+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Amber List (moderate evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:14:04.739230+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:13:37.114564+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported.; to: Multiple families reported. However, association between SIX5 variants and BOR is DISPUTED by ClinGen: Association has been reported in at least 6 probands in 2 publications (17357085, 24429398), however the reported variants are high in frequency in population databases, have no evidence of pathogenicity, and/or an alternate cause of disease has later been reported (21280147). This gene-disease association is supported by protein interaction and biochemical function studies (14704431, 17357085, 11950062). While EYA1 and SIX1 gene inactivation in mice leads to ear and kidney abnormalities, two independent SIX5 mouse models have cataracts and no ear or kidney abnormalities (10802667, 10802668). In summary, there is convincing evidence disputing the association between SIX5 and autosomal dominant branchio-oto-renal syndrome.",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:13:14.702330+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX5: Changed publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:12:38.406469+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX5: Changed rating: AMBER",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:12:20.822256+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX5 were set to ",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:12:09.440668+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SIX5 as Red List (low evidence)",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:12:09.430456+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Red List (Low Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:11:50.077794+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX5: Changed rating: RED",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:11:42.260187+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SIX5: Changed phenotypes: Branchiootorenal syndrome 2, MIM#610896",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:11:30.192603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252, 21280147, 14704431, 11950062, 10802667, 10802668; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:59.520629+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:54.438618+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX5 as ready",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:54.428509+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six5 has been classified as Green List (High Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:47.973115+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10440",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX5 were changed from Branchiootorenal syndrome 2, MIM# 610896 to Branchiootorenal syndrome 2, MIM# 610896",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:42.802419+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX5 were changed from to Branchiootorenal syndrome 2, MIM# 610896",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:01:24.945696+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIX5 were set to ",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:00:49.285243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T21:00:28.231755+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 17357085, 33624842, 20301554, 24730701, 22447252; Phenotypes: Branchiootorenal syndrome 2, MIM# 610896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2022-01-01T20:57:07.110404+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1734",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FMR1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:56:30.478807+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1733",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FBP1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:56:09.755013+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1732",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:FAM20A from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:55:50.699580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1731",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:EDAR from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:55:35.151462+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1730",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:EDA from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:54:12.874935+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1729",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:DSPP from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:53:55.579096+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1728",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:DOCK8 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T20:52:36.186688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1727",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CRX from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-01T09:40:45.921390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1726",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:CRB1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-12-31T17:30:22.921304+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: Split-hand/foot malformation 1 with sensorineural hearing loss MIM#220600, Split-hand/foot malformation 1 MIM#183600; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T17:23:24.287793+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T17:12:07.951836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DLX5: Rating: GREEN; Mode of pathogenicity: None; Publications: 22121204, 24496061, 25196357, 20534536, 12112878; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DLX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:53:49.357494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10436",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:53:49.345928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10436",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:53:40.596359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10436",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from to Shprintzen-Goldberg syndrome, MIM#182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:53:17.337333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10435",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SKI were set to ",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:52:56.545210+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10434",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SKI was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:52:27.408038+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.\r\n\r\nLoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.; to: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.\r\n\r\nLoF not fully established as only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:59.530118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:49.901964+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SKI as ready",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:49.890716+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: ski has been classified as Green List (High Evidence).",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:40.541387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1725",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SKI were set to 15884042; 23023332",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:30.443829+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "commented on gene: SKI: Well established gene disease association with craniosynostosis, skeletal, and cardiovascular anomalies, high-arched palate, micrognathia. Inguinal or umbilical hernia also described. Most common skeletal manifestations are arachnodactyly, pectus deformity, camptodactyly, scoliosis.\r\n\r\nLoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:02.675678+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1724",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: LoF not fully established on only missense described so far. Some functional work suggest potential GoF for TGF beta signalling, but not conclusive. Not enough evidence so far to go against LoF.",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:51:02.656821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1724",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SKI was changed from to None",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:39:58.864273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1723",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141294, 29661920, 28902413, 27604308, 23141293, 25860818; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2Q, MIM#615025, Alpha-aminoadipic and alpha-ketoadipic aciduria MIM#204750; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:38:23.820815+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:38:19.532868+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1723",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SKI were changed from SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME to Shprintzen-Goldberg syndrome, MIM#182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:38:07.593272+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1722",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SKI were set to ",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:37:09.023440+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1721",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SKI was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:36:09.785332+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1720",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: None; Publications: 15884042, 23023332; Phenotypes: Shprintzen-Goldberg syndrome, MIM#182212; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:29:16.753883+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1720",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SIX5 as ready",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:29:16.741970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1720",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: six5 has been classified as Green List (High Evidence).",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:29:10.638885+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1720",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, MIM#610896",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T16:28:43.694390+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1719",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SIX5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootorenal syndrome 2, MIM#610896; Mode of inheritance: None; Current diagnostic: yes",
"entity_name": "SIX5",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:58.007927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KEL as ready",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:57.995661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kel has been classified as Red List (Low Evidence).",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:49.712337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10433",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KEL were changed from to [Blood group, Kell]\t110900",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:23.828947+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:23.818545+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Green List (High Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:56:14.246253+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.391",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:55:48.016398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KEL as Red List (low evidence)",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:55:48.000109+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10432",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kel has been classified as Red List (Low Evidence).",
"entity_name": "KEL",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:55:15.382707+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.390",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:54:41.100495+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:49:19.451026+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:49:04.028780+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:49:03.636698+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:48:40.732687+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:48:00.931563+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:47:04.282719+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:47:04.269245+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Red List (Low Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:47:01.764313+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:46:38.353962+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:46:14.057583+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:45:45.267577+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX15 as Red List (low evidence)",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:45:45.256654+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Red List (Low Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:45:20.984059+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: RED; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:44:36.521783+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:44:36.509559+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Green List (High Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:44:30.366970+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.681",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:43:47.452754+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.680",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:43:10.334194+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.679",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:42:38.074698+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.678",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:43.915338+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:43.904616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:40.382953+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from LEIGH SYNDROME; MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:28.052101+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:15.414142+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX15 as Amber List (moderate evidence)",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:41:15.404787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1717",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:40:53.799113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:40:53.789052+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Green List (High Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:40:39.617262+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10431",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:40:21.052728+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10430",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX15 were set to ",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:40:07.927563+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: None; Publications: 21412973, 33746038, 32232962; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:39:37.955582+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10429",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:39:20.470337+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10428",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:31:02.227604+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX10 as ready",
"entity_name": "COX10",
"entity_type": "gene"
},
{
"created": "2021-12-31T15:31:02.197701+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1716",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COX10",
"entity_type": "gene"
}
]
}