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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1182",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1180",
"results": [
{
"created": "2021-10-18T19:30:59.610276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF12 as ready",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:30:59.600055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf12 has been classified as Green List (High Evidence).",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:30:47.770255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9406",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:30:26.506980+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9405",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF12 were set to ",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:30:03.321921+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9404",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:29:43.488167+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:28:48.083398+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FGF12 as ready",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:28:48.059701+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fgf12 has been classified as Green List (High Evidence).",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:28:41.747221+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1358",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FGF12 were changed from to Developmental and epileptic encephalopathy 47, MIM# 617166",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:28:18.175977+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1357",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FGF12 were set to ",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:27:32.276348+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:26:51.748767+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 32645220, 27164707, 27830185, 27872899; Phenotypes: Developmental and epileptic encephalopathy 47, MIM# 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF12",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:11:09.342032+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KIF5A as ready",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:11:09.331525+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:10:40.608971+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KIF5A as Green List (high evidence)",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:10:40.599793+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kif5a has been classified as Green List (High Evidence).",
"entity_name": "KIF5A",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:09:02.150476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNAB3 as ready",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:09:02.113546+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnab3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:08:47.820132+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNAB3 as Red List (low evidence)",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:08:47.809937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9403",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnab3 has been classified as Red List (Low Evidence).",
"entity_name": "KCNAB3",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:07:54.789539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBK1 as ready",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:07:54.779409+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbk1 has been classified as Green List (High Evidence).",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:07:45.918611+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9402",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBK1 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, MIM#\t616439",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:05:28.541894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9401",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBK1 were set to ",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:05:07.765674+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9400",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBK1",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:03:49.646566+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from Unknown to Unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:01:29.599461+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTC as ready",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:01:29.589961+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:01:25.037662+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSTC as Red List (low evidence)",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:01:25.026621+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:00:29.139478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OSTC as ready",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:00:29.130311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:00:19.920202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OSTC as Red List (low evidence)",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T19:00:19.909246+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9399",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ostc has been classified as Red List (Low Evidence).",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:58:45.209486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNC2 as ready",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:58:45.194737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:58:27.444099+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9398",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNC2 were set to PMID:32392612; 31972370",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:57:56.145241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCNC2 as Amber List (moderate evidence)",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:57:56.134880+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9397",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:53:57.111215+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD13 as ready",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:53:57.101265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:53:48.577078+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9396",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCTD13 were changed from to Intellectual disability; seizures",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:53:22.787586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:53:21.418463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9395",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCTD13 were set to PMID: 33409479",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:52:29.057792+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4208",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: KCTD13: Changed mode of inheritance: Unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:52:23.490882+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9394",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCTD13 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:52:01.293333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD13 as Red List (low evidence)",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:52:01.282103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9393",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:51:35.461578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCTD13: Rating: RED; Mode of pathogenicity: None; Publications: 22596160, 29088697; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:50:20.894320+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED27 as ready",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:50:20.883633+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:49:45.452262+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KPNA7 as ready",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:49:45.440363+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kpna7 has been classified as Red List (Low Evidence).",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:49:39.933507+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KPNA7 as Red List (low evidence)",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:49:39.921158+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kpna7 has been classified as Red List (Low Evidence).",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:09:15.932589+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1353",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: KPNA7 was added\ngene: KPNA7 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KPNA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KPNA7 were set to 24045845; 32179771\nPhenotypes for gene: KPNA7 were set to severe neurodevelopmental defects; epilepsy\nPenetrance for gene: KPNA7 were set to unknown\nReview for gene: KPNA7 was set to RED\ngene: KPNA7 was marked as current diagnostic\nAdded comment: 1 fam with 2 siblings. Functional showed disruptions to CTCF binding \nSources: Literature",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:07:16.046779+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KMT2D as ready",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:07:16.035506+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:07:10.531178+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1353",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KMT2D were set to 33552639; 28404210; 27922244",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:05:25.795302+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KMT2D as Green List (high evidence)",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:05:25.785604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1352",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kmt2d has been classified as Green List (High Evidence).",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:04:48.106580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KMT2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 21882399; Phenotypes: Kabuki syndrome 1 MIM#147920; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KMT2D",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:03:06.097699+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED27 as Green List (high evidence)",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:03:06.086886+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1351",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med27 has been classified as Green List (High Evidence).",
"entity_name": "MED27",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:02:16.199465+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED13L as ready",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:02:16.188664+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med13l has been classified as Green List (High Evidence).",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:02:05.409915+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAP1B as ready",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:02:05.399127+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1b has been classified as Green List (High Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:02:01.328355+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAP1B were changed from febrile, fever-triggered and afebrile seizures to Intellectual disability; seizures; PVNH; dysmorphic features; Periventricular nodular heterotopia 9, MIM# 618918",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:01:41.335079+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED13L as Green List (high evidence)",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:01:41.311796+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1350",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med13l has been classified as Green List (High Evidence).",
"entity_name": "MED13L",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:01:11.773970+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAP1B as Green List (high evidence)",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:01:11.764528+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1349",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: map1b has been classified as Green List (High Evidence).",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:00:46.438454+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIG3 as ready",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:00:46.428095+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig3 has been classified as Green List (High Evidence).",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-10-18T17:00:33.022234+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 31317654, 30150678, 30214071, 33772511; Phenotypes: Intellectual disability, seizures, PVNH, dysmorphic features, Periventricular nodular heterotopia 9, MIM# 618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MAP1B",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:59:43.320608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCTD13 was added\ngene: KCTD13 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCTD13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCTD13 were set to PMID: 33409479\nReview for gene: KCTD13 was set to RED\nAdded comment: Mouse model and in vitro evidence suggesting the deletion of KCTD13 has a similar metabolic affect as adenylosuccinate lyase deficiency, which has seizures and autistic features. \nSources: Expert list",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:58:21.369638+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LIG3 as Green List (high evidence)",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:58:21.358694+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lig3 has been classified as Green List (High Evidence).",
"entity_name": "LIG3",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:58:10.757591+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ODC1 as ready",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:58:10.744247+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Red List (Low Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:57:34.357756+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ODC1 as Red List (low evidence)",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:57:34.343538+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: odc1 has been classified as Red List (Low Evidence).",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:56:24.304069+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1346",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic 1, MIM# 309800 to Microphthalmia, syndromic 1, MIM# 309800; NAA10-related syndrome; Seizures",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:56:04.027893+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCTD13 as ready",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:56:04.015689+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:55:27.106241+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA10 as Amber List (moderate evidence)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:55:27.095366+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:53:14.376172+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KCTD13 as Red List (low evidence)",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:53:14.364285+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1344",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kctd13 has been classified as Red List (Low Evidence).",
"entity_name": "KCTD13",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:53:08.767757+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OGT as ready",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:53:08.757270+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Red List (Low Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:52:01.085319+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OGT as Red List (low evidence)",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:52:01.073743+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ogt has been classified as Red List (Low Evidence).",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:56.490547+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH1 as ready",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:56.478573+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh1 has been classified as Green List (High Evidence).",
"entity_name": "KCNH1",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:50.179752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "gene: KCNC2 was added\ngene: KCNC2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: KCNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC2 were set to PMID:32392612; 31972370\nPhenotypes for gene: KCNC2 were set to epileptic encephalopathy; spastic tetraplegia; opisthotonos attacks; intellectual disability; West syndrome\nReview for gene: KCNC2 was set to AMBER\nAdded comment: PMID: 31972370. De novo missense variant (p.Val471Leu) identified in a child with early severe developmental and epileptic encephalopathy, spastic tetraplegia, opisthotonos attacks.\r\n\r\nPMID: 32392612. De novo missense variant (p.Asp167Tyr) identified in a neurofibromatosis type 1 related West syndrome patient. Functional analysis showed a significant reduction of the mean potassium current and a shift in the voltage dependence of steady-state activation. Maternally inherited NF1 variant (p.T1951Nfs*5) also identified, the mother was \"clinically unremarkable\". \nSources: Expert list",
"entity_name": "KCNC2",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:48.618940+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAGLU: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B) - 252920, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:35.052571+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9392",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "gene: OSTC was added\ngene: OSTC was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OSTC were set to PMID: 32267060\nPhenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation\nReview for gene: OSTC was set to RED\nAdded comment: A patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.\r\nPatient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.\r\nGnomAD - 10 hets, 0 hom\r\nSources: Literature \nSources: Literature",
"entity_name": "OSTC",
"entity_type": "gene"
},
{
"created": "2021-10-18T16:50:33.273299+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1342",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH1 were changed from seizures; epilepsy; intellectual disability; hypotonia; skeletal abnormalities; nail abnormalities to Temple-Baraitser syndrome, OMIM:611816 Zimmermann-Laband syndrome 1, OMIM:135500 Intellectual disability Encephalopathy without features of TBS/ZLS",
"entity_name": "KCNH1",
"entity_type": "gene"
}
]
}