{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2076","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2074","results":[{"created":"2019-12-03T19:22:23.881840+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fras1 has been classified as Green List (High Evidence).","entity_name":"FRAS1","entity_type":"gene"},{"created":"2019-12-03T19:22:19.087849+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FRAS1 were changed from  to Fraser syndrome 1, MIM#219000","entity_name":"FRAS1","entity_type":"gene"},{"created":"2019-12-03T19:22:08.305107+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FRAS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2019-12-03T19:21:55.297816+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fraser syndrome 1, MIM#219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FRAS1","entity_type":"gene"},{"created":"2019-12-03T19:19:04.847746+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLVCR1 as ready","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:19:04.839922+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flvcr1 has been classified as Red List (Low Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:19:00.338666+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLVCR1 were changed from  to Ataxia, posterior column, with retinitis pigmentosa, MIM#609033","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:18:49.126346+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLVCR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:18:38.494895+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLVCR1 as Red List (low evidence)","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:18:38.486266+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flvcr1 has been classified as Red List (Low Evidence).","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T19:18:24.614277+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ataxia, posterior column, with retinitis pigmentosa, MIM#609033; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLVCR1","entity_type":"gene"},{"created":"2019-12-03T14:56:12.227390+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FLNB as ready","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:56:12.220173+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flnb has been classified as Red List (Low Evidence).","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:56:08.367764+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLNB were changed from  to Larsen syndrome, MIM#150250","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:55:59.478905+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FLNB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:55:49.724401+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FLNB as Red List (low evidence)","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:55:49.714119+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: flnb has been classified as Red List (Low Evidence).","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:55:28.607614+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLNB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Larsen syndrome, MIM#150250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FLNB","entity_type":"gene"},{"created":"2019-12-03T14:50:30.897339+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FGF3 as ready","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:50:30.889814+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf3 has been classified as Red List (Low Evidence).","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:50:18.543634+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FGF3 were changed from  to Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:50:03.790213+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FGF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:49:54.636108+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FGF3 as Red List (low evidence)","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:49:54.628988+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.233","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fgf3 has been classified as Red List (Low Evidence).","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:49:42.596647+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FGF3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM#610706; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FGF3","entity_type":"gene"},{"created":"2019-12-03T14:47:15.198101+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDFT1 as ready","entity_name":"FDFT1","entity_type":"gene"},{"created":"2019-12-03T14:47:15.190161+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdft1 has been classified as Green List (High Evidence).","entity_name":"FDFT1","entity_type":"gene"},{"created":"2019-12-03T14:32:37.141597+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FDFT1 as Green List (high evidence)","entity_name":"FDFT1","entity_type":"gene"},{"created":"2019-12-03T14:32:37.132904+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdft1 has been classified as Green List (High Evidence).","entity_name":"FDFT1","entity_type":"gene"},{"created":"2019-12-03T14:31:19.481816+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FDFT1 was added\ngene: FDFT1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert list\nMode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FDFT1 were set to 29909962\nPhenotypes for gene: FDFT1 were set to Squalene synthase deficiency, MIM#618156\nReview for gene: FDFT1 was set to GREEN\nAdded comment: Three individuals from two unrelated families reported; metabolic disorder with good level of biochemical evidence to support gene-disease association.. \nSources: Expert list","entity_name":"FDFT1","entity_type":"gene"},{"created":"2019-12-03T14:26:21.723869+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXO31 as ready","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:26:21.716952+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxo31 has been classified as Red List (Low Evidence).","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:26:09.505181+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FBXO31 was added\ngene: FBXO31 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: FBXO31 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FBXO31 were set to 24623383\nPhenotypes for gene: FBXO31 were set to Mental retardation, autosomal recessive 45, MIM#615979\nReview for gene: FBXO31 was set to RED\nAdded comment: Single consanguineous family reported with homozygous truncating variant, limited functional evidence. \nSources: Expert list","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:19:10.481836+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXO31 as ready","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:19:10.474589+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxo31 has been classified as Red List (Low Evidence).","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:19:05.154004+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXO31 were changed from  to Mental retardation, autosomal recessive 45, MIM#615979","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:18:53.376865+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FBXO31 were set to ","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:18:39.552371+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBXO31 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:18:32.155166+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBXO31 as Red List (low evidence)","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:18:32.147722+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxo31 has been classified as Red List (Low Evidence).","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T14:18:20.134383+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXO31: Rating: RED; Mode of pathogenicity: None; Publications: 24623383; Phenotypes: Mental retardation, autosomal recessive 45, MIM#615979; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBXO31","entity_type":"gene"},{"created":"2019-12-03T07:56:31.186501+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBN1 as ready","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:56:31.179026+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Red List (Low Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:56:26.562760+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBN1 were changed from  to Marfan syndrome, MIM#154700; Geleophysic dysplasia 2, MIM#614185; Weill-Marchesani syndrome 2, dominant, MIM#608328","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:56:13.022890+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:56:06.739796+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBN1 as Red List (low evidence)","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:56:06.732246+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbn1 has been classified as Red List (Low Evidence).","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:55:45.496958+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM#154700, Geleophysic dysplasia 2, MIM#614185, Weill-Marchesani syndrome 2, dominant, MIM#608328; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBN1","entity_type":"gene"},{"created":"2019-12-03T07:51:02.355428+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBLN5 as ready","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:51:02.340513+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Red List (Low Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:50:57.967903+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBLN5 were changed from  to Cutis laxa, autosomal recessive, type IA, MIM#219100","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:50:44.138329+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FBLN5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:50:36.313690+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBLN5 as Red List (low evidence)","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:50:36.306538+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbln5 has been classified as Red List (Low Evidence).","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T07:50:24.464426+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cutis laxa, autosomal recessive, type IA, MIM#219100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FBLN5","entity_type":"gene"},{"created":"2019-12-03T06:48:37.317278+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FASTKD2 as ready","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:48:37.309977+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fastkd2 has been classified as Amber List (Moderate Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:48:31.020392+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FASTKD2 were changed from  to Mitochondrial complex IV deficiency, MIM#220110","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:48:19.107054+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FASTKD2 were set to ","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:48:02.639434+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:47:49.237745+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FASTKD2 as Amber List (moderate evidence)","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:47:49.230004+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fastkd2 has been classified as Amber List (Moderate Evidence).","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:47:32.077961+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: None; Publications: 18771761, 28499982; Phenotypes: Mitochondrial complex IV deficiency, MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FASTKD2","entity_type":"gene"},{"created":"2019-12-03T06:39:31.266666+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FARS2 were changed from  to Combined oxidative phosphorylation deficiency 14, MIM#614946","entity_name":"FARS2","entity_type":"gene"},{"created":"2019-12-03T06:39:17.366007+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FARS2 were set to ","entity_name":"FARS2","entity_type":"gene"},{"created":"2019-12-03T06:39:03.262551+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FARS2","entity_type":"gene"},{"created":"2019-12-03T06:38:48.645793+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499341, 22833457; Phenotypes: Combined oxidative phosphorylation deficiency 14, MIM#614946; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FARS2","entity_type":"gene"},{"created":"2019-12-03T06:33:22.122871+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCD2 as ready","entity_name":"FANCD2","entity_type":"gene"},{"created":"2019-12-03T06:33:22.114807+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fancd2 has been classified as Green List (High Evidence).","entity_name":"FANCD2","entity_type":"gene"},{"created":"2019-12-03T06:33:15.623193+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCD2 were changed from  to Fanconi anemia, complementation group D2, MIM#\t227646","entity_name":"FANCD2","entity_type":"gene"},{"created":"2019-12-03T06:33:03.750653+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCD2","entity_type":"gene"},{"created":"2019-12-03T06:32:45.273498+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anemia, complementation group D2, MIM# 227646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCD2","entity_type":"gene"},{"created":"2019-12-03T06:30:32.246846+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDNRB as ready","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-03T06:30:32.239591+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ednrb has been classified as Red List (Low Evidence).","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-03T06:30:25.128714+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDNRB were changed from  to Waardenburg syndrome, type 4A, MIM#277580","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-03T06:30:13.333222+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EDNRB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-03T06:30:00.646129+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EDNRB as Red List (low evidence)","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-03T06:30:00.637700+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ednrb has been classified as Red List (Low Evidence).","entity_name":"EDNRB","entity_type":"gene"},{"created":"2019-12-02T20:50:01.843748+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAAH2 as ready","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:50:01.835434+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faah2 has been classified as Red List (Low Evidence).","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:55.732188+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FAAH2 were changed from  to Neuropsychiatric disorder","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:45.309933+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAAH2 were set to ","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:33.333201+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FAAH2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:25.690031+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAAH2 as Red List (low evidence)","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:25.680742+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: faah2 has been classified as Red List (Low Evidence).","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:49:13.121224+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAAH2: Rating: RED; Mode of pathogenicity: None; Publications: 25885783; Phenotypes: Neuropsychiatric disorder; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FAAH2","entity_type":"gene"},{"created":"2019-12-02T20:45:36.154022+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FA2H as ready","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:45:36.146626+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Red List (Low Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:45:28.745462+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FA2H were changed from  to Spastic paraplegia 35, autosomal recessive, MIM#612319","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:45:14.642629+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FA2H was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:45:04.170094+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FA2H as Red List (low evidence)","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:45:04.158377+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fa2h has been classified as Red List (Low Evidence).","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T20:44:50.502124+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ","panel_id":250,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, MIM#612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-02T10:55:10.536253+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Seb L","item_type":"entity","text":"Marked gene: CFAP57 as ready","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:55:10.529004+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Seb L","item_type":"entity","text":"Gene: cfap57 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:54:29.625311+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Seb L","item_type":"entity","text":"Classified gene: CFAP57 as Amber List (moderate evidence)","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:54:29.615828+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.2","user_name":"Seb L","item_type":"entity","text":"Gene: cfap57 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:53:51.460048+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.1","user_name":"Seb L","item_type":"entity","text":"edited their review of gene: CFAP57: Added comment: Gene not in PubMed but recently published in bioRxiv in single patient with hom nonsense variants and Primary ciliary dyskinesia. Some functional data provided.; Changed publications: bioRxiv 773028 doi: https://doi.org/10.1101/773028","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:50:11.479252+11:00","panel_name":"Ciliary dyskinesia_VCGS","panel_id":82,"panel_version":"0.1","user_name":"Seb L","item_type":"entity","text":"gene: CFAP57 was added\ngene: CFAP57 was added to Ciliary dyskinesia_VCGS. Sources: Literature\nMode of inheritance for gene: CFAP57 was set to BIALLELIC, autosomal or pseudoautosomal\nReview for gene: CFAP57 was set to AMBER\nAdded comment: Sources: Literature","entity_name":"CFAP57","entity_type":"gene"},{"created":"2019-12-02T10:43:59.224603+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.146","user_name":"Seb L","item_type":"entity","text":"Classified gene: CFAP57 as Amber List (moderate evidence)","entity_name":"CFAP57","entity_type":"gene"}]}