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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=460",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=458",
"results": [
{
"created": "2024-05-04T13:47:47.298560+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual with situs inversus.; to: Single individual with situs inversus.\r\n\r\nWhole gene-disease relationship assessed as DISPUTED by ClinGen.",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:47:25.078388+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: BRWD1.",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:47:05.636190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: BRWD1.",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:46:45.998784+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: BRWD1.",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:46:38.367663+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRWD1 as Red List (low evidence)",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:46:38.349171+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd1 has been classified as Red List (Low Evidence).",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:45:34.577960+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BRWD1 as Red List (low evidence)",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:45:34.563250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brwd1 has been classified as Red List (Low Evidence).",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:16:02.984962+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC6A20 as ready",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:16:02.965422+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:15:51.963364+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.14",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC6A20 were set to 24816252; 19033659",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:15:41.464656+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC6A20 as Red List (low evidence)",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:15:41.451427+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.13",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:15:31.986942+10:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "1.12",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:14:03.435700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1767",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SLC6A20 were set to 24816252; 19033659",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:13:38.802492+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC6A20 as Red List (low evidence)",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:13:38.788682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1766",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc6a20 has been classified as Red List (Low Evidence).",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T13:12:20.242048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC6A20: Rating: RED; Mode of pathogenicity: None; Publications: 19033659, 36820062, 24816252; Phenotypes: Hyperglycinuria MONDO:0007677; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:49:47.849069+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NFE2L2 as ready",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:49:47.833464+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:49:24.677722+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: NFE2L2 as Green List (high evidence)",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:49:24.663694+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nfe2l2 has been classified as Green List (High Evidence).",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:49:00.703821+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NFE2L2 was added\ngene: NFE2L2 was added to Leukodystrophy - paediatric. Sources: Literature\nMode of inheritance for gene: NFE2L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NFE2L2 were set to 29018201\nPhenotypes for gene: NFE2L2 were set to Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591; Disorders of glutathione metabolism\nMode of pathogenicity for gene: NFE2L2 was set to Other\nReview for gene: NFE2L2 was set to GREEN\ngene: NFE2L2 was marked as current diagnostic\nAdded comment: Paediatric-onset leukoencephalopathy is a feature of the condition. \nSources: Literature",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-04T12:43:52.290107+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1765",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: NFE2L2.",
"entity_name": "NFE2L2",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:56:27.047207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1765",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004289; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:53:50.818581+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.38",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: BRWD1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004289; Phenotypes: primary ciliary dyskinesia MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRWD1",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:07:06.996083+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPO as ready",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:07:06.977461+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpo has been classified as Green List (High Evidence).",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:06:39.210106+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2660",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPO were changed from Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:06:04.760604+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2659",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:03:10.351607+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2658",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPO were set to 34769443; 33981986; 33748042; 32888189",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:02:32.561132+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPO were set to ",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:01:38.858515+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:00:33.848034+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNKP as ready",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-05-03T14:00:33.836193+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnkp has been classified as Green List (High Evidence).",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:59:16.374884+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNKP were changed from to Microcephaly, seizures, and developmental delay, MIM#\t613402",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:43:24.614597+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNKP were set to ",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:40:18.859675+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNKP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNKP",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:37:24.015531+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:37:23.998155+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:37:03.090897+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2652",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PMM2 were changed from to Congenital disorder of glycosylation, type Ia (MIM#212065); Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:36:14.316742+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2651",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:35:16.374515+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2650",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PMM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:34:12.678473+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIK3R2 as ready",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:34:12.663893+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pik3r2 has been classified as Green List (High Evidence).",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:34:07.561276+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2649",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIK3R2 were changed from to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, MIM# 603387",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:31:59.410492+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2648",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIK3R2 were set to ",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:31:09.339644+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2647",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIK3R2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:30:24.191168+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 10 affected individuals reported. Some variants are recurrent.; to: More than 10 affected individuals reported. Some variants are recurrent. Seizures are part of the phenotype.",
"entity_name": "PIK3R2",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:29:50.421940+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIGC as ready",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:29:50.407593+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pigc has been classified as Green List (High Evidence).",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:29:44.391708+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2646",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGC were changed from Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816 to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:29:11.970546+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIGC were changed from to Glycosylphosphatidylinositol biosynthesis defect 16, MIM# 617816",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T13:28:34.333339+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGC were set to 27694521; 32707268",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T12:21:40.725241+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIGC were set to ",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T12:19:40.388600+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIGC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIGC",
"entity_type": "gene"
},
{
"created": "2024-05-03T12:15:54.351352+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHGDH as ready",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T12:15:54.339527+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phgdh has been classified as Green List (High Evidence).",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T12:01:26.598925+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PHGDH were changed from to Neu-Laxova syndrome 1, MIM# 256520; Phosphoglycerate dehydrogenase deficiency, MIM# 601815",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:59:29.224824+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PHGDH were set to ",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:58:41.315024+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:58:02.286920+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PHGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:57:17.873443+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association, severity depends on amount of residual enzyme activity.; to: Well established gene-disease association, severity depends on amount of residual enzyme activity, seizures are part of the phenotype.",
"entity_name": "PHGDH",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:56:51.001403+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:56:26.826083+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX7 as ready",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:56:26.814522+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex7 has been classified as Green List (High Evidence).",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:54:48.229580+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from Peroxisome biogenesis disorder 9B, MIM# 614879 to Peroxisome biogenesis disorder 9B, MIM# 614879",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:54:09.718926+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX7 were changed from to Peroxisome biogenesis disorder 9B, MIM# 614879",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:53:10.192429+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX7 were set to ",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:51:11.845699+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:50:03.015337+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX6 as ready",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:50:02.993525+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex6 has been classified as Green List (High Evidence).",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:49:56.895570+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX6 were changed from to Peroxisome biogenesis disorder 4A (Zellweger), MIM#\t614862",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:49:15.672015+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX6 were set to ",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:48:20.639761+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:47:05.644500+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX5 as ready",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:47:05.622401+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex5 has been classified as Green List (High Evidence).",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:46:51.512385+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX5 were changed from to Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110; Peroxisome biogenesis disorder 2B, MIM# 202370",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:45:54.484794+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX5 were set to ",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:44:21.080048+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:43:27.848999+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX3 as ready",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:43:27.837505+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex3 has been classified as Green List (High Evidence).",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:41:56.561159+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX3 were changed from to Peroxisome biogenesis disorder 10A (Zellweger), MIM# 614882; Peroxisome biogenesis disorder 10B , MIM# 617370",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:41:11.794896+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX3 were set to ",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:40:02.564780+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:38:30.754789+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MOCS2 as ready",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:38:30.738023+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mocs2 has been classified as Green List (High Evidence).",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:37:41.870808+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MOCS2 were changed from to Molybdenum cofactor deficiency B MIM#252160",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:29:12.364822+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGCE as ready",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:29:12.351286+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Green List (High Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:28:31.512425+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGCE as Green List (high evidence)",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:28:31.500599+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgce has been classified as Green List (High Evidence).",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:27:41.518736+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCE was added\ngene: SGCE was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPublications for gene: SGCE were set to 15389977; 12821748; 24297365\nPhenotypes for gene: SGCE were set to Dystonia-11, myoclonic, MIM# 159900\nReview for gene: SGCE was set to GREEN\nAdded comment: Occasional reports of epilepsy in this disorder; however, also included due to possible phenotypic overlap. \nSources: Expert list",
"entity_name": "SGCE",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:22:41.529907+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRD5A3 as ready",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:22:41.517378+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:22:31.284668+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRD5A3 as Amber List (moderate evidence)",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:22:31.267989+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srd5a3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:21:39.235896+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRD5A3 was added\ngene: SRD5A3 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRD5A3 were set to 26219881\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, MIM#\t612379\nReview for gene: SRD5A3 was set to AMBER\nAdded comment: Many CDGs have epilepsy as a feature, and note brain abnormalities with this particular CDG,w which may be expected to contribute to the development of epilepsy. However, paucity of reports of patients with molecularly confirmed diagnosis and epilepsy. \nSources: Expert list",
"entity_name": "SRD5A3",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:17:27.189906+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAGI2 as ready",
"entity_name": "MAGI2",
"entity_type": "gene"
},
{
"created": "2024-05-03T11:17:27.169570+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: magi2 has been classified as Red List (Low Evidence).",
"entity_name": "MAGI2",
"entity_type": "gene"
}
]
}