{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1182","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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"}]}