{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1940","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1938","results":[{"created":"2020-02-05T16:50:33.112638+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNX27 as Green List (high evidence)","entity_name":"SNX27","entity_type":"gene"},{"created":"2020-02-05T16:50:33.088376+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snx27 has been classified as Green List (High Evidence).","entity_name":"SNX27","entity_type":"gene"},{"created":"2020-02-05T16:49:49.672475+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.588","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SNX27 was added\ngene: SNX27 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: SNX27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNX27 were set to 25894286; 31721175; 21300787; 23524343\nPhenotypes for gene: SNX27 were set to intellectual disability; seizures\nReview for gene: SNX27 was set to GREEN\nAdded comment: Three unrelated families and animal model. \nSources: Expert Review","entity_name":"SNX27","entity_type":"gene"},{"created":"2020-02-05T16:41:38.520447+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUM1 as ready","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:41:38.508973+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pum1 has been classified as Green List (High Evidence).","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:40:32.323570+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HMCN1 as ready","entity_name":"HMCN1","entity_type":"gene"},{"created":"2020-02-05T16:40:32.312873+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hmcn1 has been classified as Red List (Low Evidence).","entity_name":"HMCN1","entity_type":"gene"},{"created":"2020-02-05T16:39:44.193929+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HMCN1 as Red List (low evidence)","entity_name":"HMCN1","entity_type":"gene"},{"created":"2020-02-05T16:39:44.183054+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: hmcn1 has been classified as Red List (Low Evidence).","entity_name":"HMCN1","entity_type":"gene"},{"created":"2020-02-05T16:39:34.766103+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: None; Publications: 25986072, 16020313, 14570714; Phenotypes: Age-related macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"HMCN1","entity_type":"gene"},{"created":"2020-02-05T16:36:54.934581+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from ataxia; intellectual disability; epilepsy to intellectual disability; epilepsy; Spinocerebellar ataxia 47, MIM#\t617931","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:35:21.548838+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PUM1 as Green List (high evidence)","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:35:21.524203+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pum1 has been classified as Green List (High Evidence).","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:34:42.866652+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.585","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUM1 was added\ngene: PUM1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PUM1 were set to 29474920; 25768905; 30903679; 31859446\nPhenotypes for gene: PUM1 were set to ataxia; intellectual disability; epilepsy\nReview for gene: PUM1 was set to GREEN\nAdded comment: More than 10 families reported. Individuals with either PUM1 deletions or de novo missense variants have a developmental syndrome (Pumilio1-associated developmental disability, ataxia, and seizure; PADDAS). One family with milder missense variant and adult-onset ataxia with incomplete penetrance (Pumilio1-related cerebellar ataxia, PRCA) \nSources: Expert Review","entity_name":"PUM1","entity_type":"gene"},{"created":"2020-02-05T16:29:08.936043+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMPCB as ready","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:29:08.925472+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpcb has been classified as Green List (High Evidence).","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:28:53.047904+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMPCB as Green List (high evidence)","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:28:53.023644+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1986","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpcb has been classified as Green List (High Evidence).","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:24:49.618274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1985","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMPCB was added\ngene: PMPCB was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCB were set to 29576218\nPhenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM#\t617954\nReview for gene: PMPCB was set to GREEN\nAdded comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy. \nSources: Expert Review","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:22:45.467342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSF as ready","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:22:45.456937+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:22:16.206947+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSF as Amber List (moderate evidence)","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:22:16.195967+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1984","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:21:30.001332+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMPCB as ready","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:21:29.990950+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpcb has been classified as Green List (High Evidence).","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:21:24.723537+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMPCB as Green List (high evidence)","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:21:24.713320+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.584","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmpcb has been classified as Green List (High Evidence).","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:20:41.339405+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FSCN2 as Red List (low evidence)","entity_name":"FSCN2","entity_type":"gene"},{"created":"2020-02-05T16:20:41.328159+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fscn2 has been classified as Red List (Low Evidence).","entity_name":"FSCN2","entity_type":"gene"},{"created":"2020-02-05T16:20:36.111516+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.583","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PMPCB was added\ngene: PMPCB was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMPCB were set to 29576218\nPhenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, MIM#\t617954\nReview for gene: PMPCB was set to GREEN\nAdded comment: Five individuals from four families; seizures in 4/5 individuals reported, onset in infancy. \nSources: Expert list","entity_name":"PMPCB","entity_type":"gene"},{"created":"2020-02-05T16:20:31.344533+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: None; Publications: 11527955, 16043865, 16280978, 17251446, 18450588; Phenotypes: Retinitis pigmentosa 30 MIM#607921, Macular degeneration; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"FSCN2","entity_type":"gene"},{"created":"2020-02-05T16:16:48.556435+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCYT2 as ready","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-02-05T16:16:48.545422+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-02-05T16:16:41.592504+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCYT2 as Green List (high evidence)","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-02-05T16:16:41.582110+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.582","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcyt2 has been classified as Green List (High Evidence).","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-02-05T16:15:13.588641+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.581","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PCYT2 was added\ngene: PCYT2 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCYT2 were set to 31637422\nPhenotypes for gene: PCYT2 were set to intellectual disability; regression; spastic para-/tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy\nReview for gene: PCYT2 was set to GREEN\nAdded comment: Five individuals from four families. \nSources: Expert list","entity_name":"PCYT2","entity_type":"gene"},{"created":"2020-02-05T16:10:30.132536+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OXR1 as ready","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-02-05T16:10:30.120131+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-02-05T16:09:39.337997+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OXR1 as Green List (high evidence)","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-02-05T16:09:39.327596+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.580","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oxr1 has been classified as Green List (High Evidence).","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-02-05T16:08:41.004892+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.579","user_name":"Zornitza Stark","item_type":"entity","text":"gene: OXR1 was added\ngene: OXR1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OXR1 were set to 31785787; 22028674\nPhenotypes for gene: OXR1 were set to Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, MIM#\t213000\nReview for gene: OXR1 was set to GREEN\nAdded comment: Five individuals from three unrelated families, supportive animal models. \nSources: Literature","entity_name":"OXR1","entity_type":"gene"},{"created":"2020-02-05T16:03:26.860217+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1983","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSF was added\ngene: NSF was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:03:03.924789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSF as ready","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:03:03.827551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:01:46.014271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSF as Amber List (moderate evidence)","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:01:46.003727+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1255","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:01:26.731411+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1254","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSF was added\ngene: NSF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:00:50.162955+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSF as ready","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:00:50.149365+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:00:30.638960+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSF as Amber List (moderate evidence)","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T16:00:30.614032+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.578","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsf has been classified as Amber List (Moderate Evidence).","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T15:59:14.346791+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.577","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NSF was added\ngene: NSF was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NSF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NSF were set to 31675180\nPhenotypes for gene: NSF were set to Seizures; EEG with burst suppression; Global developmental delay; Intellectual disability\nReview for gene: NSF was set to AMBER\nAdded comment: Two individuals reported with de novo missense variants in this gene. \nSources: Literature","entity_name":"NSF","entity_type":"gene"},{"created":"2020-02-05T15:53:35.583271+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1253","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT8 as ready","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:53:35.571620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:52:52.576541+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1253","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT8 as Green List (high evidence)","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:52:52.565974+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1253","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:52:37.119733+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PITPNM3 as Red List (low evidence)","entity_name":"PITPNM3","entity_type":"gene"},{"created":"2020-02-05T15:52:37.108838+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pitpnm3 has been classified as Red List (Low Evidence).","entity_name":"PITPNM3","entity_type":"gene"},{"created":"2020-02-05T15:52:26.828424+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: None; Publications: 17377520, 22405330; Phenotypes: Cone-rod dystrophy 5 MIM#600977; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"PITPNM3","entity_type":"gene"},{"created":"2020-02-05T15:52:20.534352+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT8 as ready","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:52:20.523623+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:52:13.093047+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1252","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KAT8 was added\ngene: KAT8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:51:50.524274+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT8 as Green List (high evidence)","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:51:50.513821+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1982","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:50:17.747999+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1981","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KAT8 was added\ngene: KAT8 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:49:39.411185+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KAT8 as ready","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:49:39.398888+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:48:44.971524+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KAT8 as Green List (high evidence)","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:48:44.947168+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.576","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kat8 has been classified as Green List (High Evidence).","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:47:21.304607+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.575","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KAT8 was added\ngene: KAT8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: KAT8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KAT8 were set to 31794431\nPhenotypes for gene: KAT8 were set to Intellectual disability; seizures; autism; dysmorphic features\nReview for gene: KAT8 was set to GREEN\nAdded comment: Eight unrelated individuals reported with de novo variants in this gene and a mouse model. All variants missense, in the chromobarrel domain or the acetyltransferase domain; three individuals had the same variant p.Tyr90Cys . One more individual reported with bi-allelic variants: one missense and one frameshift; carrier parents were normal suggesting that may be haploinsuffiency is not the mechanism. \nSources: Literature","entity_name":"KAT8","entity_type":"gene"},{"created":"2020-02-05T15:40:37.126500+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN9A as ready","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:40:37.115588+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn9a has been classified as Amber List (Moderate Evidence).","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:40:00.845875+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.574","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN9A were changed from  to {Dravet syndrome, modifier of} MIM#607208; Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863; Febrile seizures, familial, 3B MIM#613863","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:39:28.251873+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN9A were set to ","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:38:55.369416+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.572","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN9A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:38:01.913436+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN9A as Amber List (moderate evidence)","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:38:01.901992+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.571","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn9a has been classified as Amber List (Moderate Evidence).","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:37:18.702236+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.570","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: None; Publications: 19763161, 29500686, 30834459, 23895530; Phenotypes: {Dravet syndrome, modifier of} MIM#607208, Epilepsy, generalized, with febrile seizures plus, type 7 MIM#613863, Febrile seizures, familial, 3B MIM#613863; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SCN9A","entity_type":"gene"},{"created":"2020-02-05T15:27:29.091274+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-02-05T15:26:30.638305+11:00","panel_name":"Macular Dystrophy/Stargardt Disease","panel_id":303,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Macular Dystrophy/Stargardt Disease_RMH to Macular Dystrophy/Stargardt Disease\nPanel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2020-02-05T15:24:48.299482+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RBP3 as Amber List (moderate evidence)","entity_name":"RBP3","entity_type":"gene"},{"created":"2020-02-05T15:24:48.288537+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbp3 has been classified as Amber List (Moderate Evidence).","entity_name":"RBP3","entity_type":"gene"},{"created":"2020-02-05T15:24:38.632232+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: RBP3: Rating: AMBER; Mode of pathogenicity: None; Publications: 25766589, 19074801; Phenotypes: Retinitis pigmentosa 66 MIM#615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBP3","entity_type":"gene"},{"created":"2020-02-05T15:10:07.305512+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PRDM13 as Red List (low evidence)","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-02-05T15:10:07.300556+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Not detectable with WES","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-02-05T15:10:07.273899+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: prdm13 has been classified as Red List (Low Evidence).","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-02-05T15:09:49.909792+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PRDM13: Rating: RED; Mode of pathogenicity: Other; Publications: 28973654, 26507665; Phenotypes: Macular dystrophy, North Carolina type MIM#136550; Mode of inheritance: None","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-02-05T15:00:23.011795+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PRDM13.","entity_name":"PRDM13","entity_type":"gene"},{"created":"2020-02-05T14:56:17.391876+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CFH as Green List (high evidence)","entity_name":"CFH","entity_type":"gene"},{"created":"2020-02-05T14:56:17.381243+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: cfh has been classified as Green List (High Evidence).","entity_name":"CFH","entity_type":"gene"},{"created":"2020-02-05T14:56:06.564765+11:00","panel_name":"Macular Dystrophy/Stargardt Disease_RMH","panel_id":303,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: None; Publications: 27572114, 25814826; Phenotypes: Basal laminar drusen MIM#126700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"CFH","entity_type":"gene"},{"created":"2020-02-05T10:29:01.679930+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1980","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: TRAPPC9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30853973; Phenotypes: Intellectual disability, autosomal recessive 13 (MIM# 613192); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-02-05T10:03:38.551187+11:00","panel_name":"Renal Cystic Disease_SuperPanel","panel_id":263,"panel_version":"0.116","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from promoted to public\nPanel types changed to Superpanel; Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-02-05T08:34:03.273902+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLRA1 as ready","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:34:03.262974+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra1 has been classified as Red List (Low Evidence).","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:33:50.164978+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1980","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLRA1 were changed from Hyperekplexia 1, MIM# 149400 to Hyperekplexia 1, MIM# 149400","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:33:09.002640+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1979","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLRA1 were changed from  to Hyperekplexia 1, MIM# 149400","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:32:31.276686+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:31:59.794861+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLRA1 as Red List (low evidence)","entity_name":"GLRA1","entity_type":"gene"},{"created":"2020-02-05T08:31:59.782939+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.1978","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glra1 has been classified as Red List (Low Evidence).","entity_name":"GLRA1","entity_type":"gene"}]}