{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1962","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1960","results":[{"created":"2020-01-25T20:26:38.165874+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: None; Publications: 29961569, 27479843, 28135719, 25363760, 25961944; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, MIM#618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF7","entity_type":"gene"},{"created":"2020-01-25T20:24:32.679417+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TNK2 as ready","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:24:32.672163+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnk2 has been classified as Green List (High Evidence).","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:23:56.573776+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNK2 were changed from  to severe infantile onset epilepsy","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:23:25.398127+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNK2 were set to ","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:18:53.732347+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.492","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:18:12.907793+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TNK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 27977884, 23686771; Phenotypes: severe infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNK2","entity_type":"gene"},{"created":"2020-01-25T20:14:49.557684+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM70 as ready","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:14:49.550203+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem70 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:14:43.710576+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM70 were changed from Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:14:07.853366+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM70 were changed from  to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:13:36.123561+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.490","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM70 were set to ","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:13:01.825491+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:12:14.905049+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM70 as Amber List (moderate evidence)","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:12:14.897941+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.488","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem70 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:11:33.409331+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: None; Publications: 18953340, 21147908; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM#614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-01-25T20:06:19.105668+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM50 as ready","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:06:19.102614+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: At least 4 families reported, all affected individuals had seizures.","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:06:19.083202+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm50 has been classified as Green List (High Evidence).","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:05:51.827287+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.487","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM50 were changed from  to 3-methylglutaconic aciduria, type IX, MIM#617698","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:05:17.456968+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.486","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TIMM50 were set to ","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:04:42.356852+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.485","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T20:03:51.375057+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM#617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TIMM50","entity_type":"gene"},{"created":"2020-01-25T18:48:29.168476+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TDP2 as ready","entity_name":"TDP2","entity_type":"gene"},{"created":"2020-01-25T18:48:29.152644+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tdp2 has been classified as Green List (High Evidence).","entity_name":"TDP2","entity_type":"gene"},{"created":"2020-01-25T18:48:22.147671+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TDP2 as Green List (high evidence)","entity_name":"TDP2","entity_type":"gene"},{"created":"2020-01-25T18:48:22.140779+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.484","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tdp2 has been classified as Green List (High Evidence).","entity_name":"TDP2","entity_type":"gene"},{"created":"2020-01-25T18:47:25.665920+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.483","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TDP2 was added\ngene: TDP2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TDP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TDP2 were set to 24658003; 30109272; 31410782\nPhenotypes for gene: TDP2 were set to Spinocerebellar ataxia, autosomal recessive 23, 616949\nReview for gene: TDP2 was set to GREEN\ngene: TDP2 was marked as current diagnostic\nAdded comment: At least 6 individuals from 4 unrelated families reported; ID/seizures/ataxia are a consistent features. \nSources: Expert list","entity_name":"TDP2","entity_type":"gene"},{"created":"2020-01-25T18:45:06.975955+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D20 as ready","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:45:06.968687+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:44:56.031478+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.482","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D20 were changed from  to Warburg micro syndrome 4, MIM#615663","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:43:38.909805+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D20 were set to 24239381","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:43:08.053084+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TBC1D20 were set to ","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:42:37.813535+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TBC1D20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:41:55.221374+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D20 as Amber List (moderate evidence)","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:41:55.212941+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.479","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d20 has been classified as Amber List (Moderate Evidence).","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:41:14.360263+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: None; Publications: 24239381; Phenotypes: Warburg micro syndrome 4, MIM#615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2020-01-25T18:39:07.070827+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TANGO2 as ready","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-01-25T18:39:07.063459+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tango2 has been classified as Green List (High Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-01-25T18:38:19.195877+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TANGO2 as Green List (high evidence)","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-01-25T18:38:19.189069+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.478","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tango2 has been classified as Green List (High Evidence).","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-01-25T18:37:38.057507+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.477","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TANGO2 was added\ngene: TANGO2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TANGO2 were set to 26805782; 30245509\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878\nReview for gene: TANGO2 was set to GREEN\ngene: TANGO2 was marked as current diagnostic\nAdded comment: Seizures present in around 80% of reported individuals. \nSources: Expert list","entity_name":"TANGO2","entity_type":"gene"},{"created":"2020-01-25T18:28:56.055698+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUCLG1 as ready","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:28:56.048656+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: suclg1 has been classified as Amber List (Moderate Evidence).","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:28:50.103772+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.476","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUCLG1 were set to 26475597; 27484306","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:28:19.264892+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SUCLG1 were set to ","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:27:47.547690+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.475","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SUCLG1 were changed from  to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:27:16.807118+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:26:44.874755+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUCLG1 as Amber List (moderate evidence)","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:26:44.865359+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.474","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: suclg1 has been classified as Amber List (Moderate Evidence).","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:26:05.526848+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: None; Publications: 26475597, 27484306; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SUCLG1","entity_type":"gene"},{"created":"2020-01-25T18:21:39.933185+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: None; Publications: 23252400, 31584066; Phenotypes: Epileptic encephalopathy, early infantile, 15 , MIM#615006; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ST3GAL3","entity_type":"gene"},{"created":"2020-01-25T18:13:00.825832+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPATA5 as ready","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-01-25T18:13:00.818235+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5 has been classified as Green List (High Evidence).","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-01-25T18:11:13.509723+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPATA5 as Green List (high evidence)","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-01-25T18:11:13.499346+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spata5 has been classified as Green List (High Evidence).","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-01-25T18:10:13.061411+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.472","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPATA5 was added\ngene: SPATA5 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPATA5 were set to 27246907; 29343804; 26299366\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, MIM# 616577\nReview for gene: SPATA5 was set to GREEN\ngene: SPATA5 was marked as current diagnostic\nAdded comment: More than 15 families have been reported in multiple publications. Clinical features include intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay. \nSources: Expert list","entity_name":"SPATA5","entity_type":"gene"},{"created":"2020-01-25T18:07:34.899678+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMS as ready","entity_name":"SMS","entity_type":"gene"},{"created":"2020-01-25T18:07:34.892238+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sms has been classified as Green List (High Evidence).","entity_name":"SMS","entity_type":"gene"},{"created":"2020-01-25T18:06:51.255740+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMS as Green List (high evidence)","entity_name":"SMS","entity_type":"gene"},{"created":"2020-01-25T18:06:51.243169+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.471","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sms has been classified as Green List (High Evidence).","entity_name":"SMS","entity_type":"gene"},{"created":"2020-01-25T18:05:51.996954+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.470","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMS was added\ngene: SMS was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMS were set to 30237987\nPhenotypes for gene: SMS were set to Mental retardation X-linked Snyder-Robinson type, 309583\nReview for gene: SMS was set to GREEN\ngene: SMS was marked as current diagnostic\nAdded comment: Seizures reported in some affected individuals. \nSources: Expert list","entity_name":"SMS","entity_type":"gene"},{"created":"2020-01-25T18:02:20.062979+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SMARCA2 as ready","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2020-01-25T18:02:20.054733+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca2 has been classified as Green List (High Evidence).","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2020-01-25T18:01:55.999733+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SMARCA2 as Green List (high evidence)","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2020-01-25T18:01:55.992418+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.469","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: smarca2 has been classified as Green List (High Evidence).","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2020-01-25T17:59:45.819426+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.468","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SMARCA2 was added\ngene: SMARCA2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SMARCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA2 were set to 22366787; 22426308; 27665729\nPhenotypes for gene: SMARCA2 were set to Nicolaides-Baraitser syndrome, MIM# 601358\nReview for gene: SMARCA2 was set to GREEN\ngene: SMARCA2 was marked as current diagnostic\nAdded comment: Seizures reported in about half of affected individuals. \nSources: Expert list","entity_name":"SMARCA2","entity_type":"gene"},{"created":"2020-01-25T17:53:33.352220+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1679","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A4 as ready","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:53:33.344869+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1679","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:53:19.303616+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1679","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A4 as Green List (high evidence)","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:53:19.296380+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1679","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:52:32.660362+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A4 as Green List (high evidence)","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:52:32.652963+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1678","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:51:41.095312+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1677","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC1A4 was added\ngene: SLC1A4 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657\nReview for gene: SLC1A4 was set to GREEN\ngene: SLC1A4 was marked as current diagnostic\nAdded comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants \nSources: Expert list","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:50:32.489166+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC1A4 as ready","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:50:32.481880+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:49:58.690680+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC1A4 as Green List (high evidence)","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:49:58.683194+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc1a4 has been classified as Green List (High Evidence).","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:48:50.689538+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.466","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC1A4 was added\ngene: SLC1A4 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A4 were set to 29989513; 27193218; 26138499; 26041762; 25930971\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, MIM#\t616657\nReview for gene: SLC1A4 was set to GREEN\ngene: SLC1A4 was marked as current diagnostic\nAdded comment: Multiple affected individuals reported in the literature, seizures/EE are part of the phenotype. While initial reports identified a recurrent missense variant in individuals of Ashkenazi Jewish ancestry, there have been more recent reports of individuals from other ethnic backgrounds with different variants \nSources: Expert list","entity_name":"SLC1A4","entity_type":"gene"},{"created":"2020-01-25T17:44:46.798825+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SIX3 as ready","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:44:46.791109+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six3 has been classified as Amber List (Moderate Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:44:36.698417+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.465","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SIX3 were changed from  to Holoprosencephaly 2, MIM#157170","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:44:03.454261+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SIX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:43:24.321727+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SIX3 as Amber List (moderate evidence)","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:43:24.314032+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: six3 has been classified as Amber List (Moderate Evidence).","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:42:42.194574+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Holoprosencephaly 2, MIM#157170; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-01-25T17:40:23.733425+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SHH as ready","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:40:23.725786+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: shh has been classified as Green List (High Evidence).","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:40:15.206308+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.462","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SHH were changed from  to Hypothalamic hamartoma","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:39:42.252119+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.461","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SHH was changed from Unknown to Other","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:39:18.786302+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Tag somatic tag was added to gene: SHH.","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:39:00.235538+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SHH: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypothalamic hamartoma; Mode of inheritance: Other","entity_name":"SHH","entity_type":"gene"},{"created":"2020-01-25T17:29:32.624090+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SGSH as ready","entity_name":"SGSH","entity_type":"gene"},{"created":"2020-01-25T17:29:32.616949+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgsh has been classified as Green List (High Evidence).","entity_name":"SGSH","entity_type":"gene"},{"created":"2020-01-25T17:29:21.971606+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SGSH as Green List (high evidence)","entity_name":"SGSH","entity_type":"gene"},{"created":"2020-01-25T17:29:21.964504+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.460","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sgsh has been classified as Green List (High Evidence).","entity_name":"SGSH","entity_type":"gene"},{"created":"2020-01-25T17:28:20.553983+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.459","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SGSH was added\ngene: SGSH was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGSH were set to 21061399; 30593151\nPhenotypes for gene: SGSH were set to Mucopolysaccharidosis type IIIA (Sanfilippo A), 252900\nReview for gene: SGSH was set to GREEN\ngene: SGSH was marked as current diagnostic\nAdded comment: Seizures reported in over half of affected individuals. \nSources: Expert list","entity_name":"SGSH","entity_type":"gene"},{"created":"2020-01-25T15:15:45.662514+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETD1B as ready","entity_name":"SETD1B","entity_type":"gene"},{"created":"2020-01-25T15:15:45.654784+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setd1b has been classified as Green List (High Evidence).","entity_name":"SETD1B","entity_type":"gene"},{"created":"2020-01-25T15:15:38.457651+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.458","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SETD1B were set to ","entity_name":"SETD1B","entity_type":"gene"}]}