{"count":220828,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1606","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1604","results":[{"created":"2020-09-06T15:40:39.880710+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HIBCH as Green List (high evidence)","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:39.870629+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hibch has been classified as Green List (High Evidence).","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:40:13.598682+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HIBCH was added\ngene: HIBCH was added to Regression. Sources: Expert list\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM#\t250620\nReview for gene: HIBCH was set to GREEN\nAdded comment: Autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Multiple unrelated families reported. \nSources: Expert list","entity_name":"HIBCH","entity_type":"gene"},{"created":"2020-09-06T15:39:51.243508+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ECHS1 as ready","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-09-06T15:39:51.235000+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-09-06T15:39:47.091227+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ECHS1 as Green List (high evidence)","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-09-06T15:39:47.081263+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-09-06T15:39:37.860579+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ECHS1 was added\ngene: ECHS1 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ECHS1 were set to 32677093; 32858208\nPhenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM#\t616277\nReview for gene: ECHS1 was set to GREEN\nAdded comment: Paroxysmal and non-paroxysmal dystonia described as a manifestation of this metabolic disorder. \nSources: Expert Review","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-09-06T15:26:10.987574+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTPBP2 was added\ngene: GTPBP2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720; 30790272\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988\nReview for gene: GTPBP2 was set to GREEN\nAdded comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. \nSources: Expert Review","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:25:07.151653+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTPBP2 as ready","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:25:07.141512+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:25:04.124830+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTPBP2 as Green List (high evidence)","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:25:04.114629+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.481","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:36.839409+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTPBP2 as ready","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:36.828904+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:33.586325+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTPBP2 as Green List (high evidence)","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:33.578389+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:31.527060+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.480","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTPBP2 was added\ngene: GTPBP2 was added to Microcephaly. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720; 30790272\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988\nReview for gene: GTPBP2 was set to GREEN\nAdded comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. \nSources: Expert Review","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:24:24.369795+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GTPBP2 was added\ngene: GTPBP2 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GTPBP2 were set to 26675814; 29449720; 30790272\nPhenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, MIM#617988\nReview for gene: GTPBP2 was set to GREEN\nAdded comment: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation. \nSources: Expert Review","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:22:26.980209+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTPBP2 as ready","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:22:26.972549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:22:20.720934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP2 were changed from  to Jaberi-Elahi syndrome, MIM#617988","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:22:01.243120+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4237","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTPBP2 were set to ","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:21:44.678148+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTPBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:21:27.079032+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 29449720, 30790272; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:20:48.273251+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.843","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Six unrelated families with this neurodevelopmental syndrome, seizures are a feature. \r\nSources: Expert list; to: Nine individuals from six unrelated families with bi-allelic variants in this gene causing a neuro-ectodermal syndrome. Key features include prenatal onset microcephaly, tone abnormalities, and movement disorders, epilepsy, dysmorphic features, retinal dysfunction, ectodermal dysplasia, and brain iron accumulation.\r\nSources: Expert list","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:20:33.438206+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2967","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTPBP2 as ready","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:20:33.427846+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2967","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtpbp2 has been classified as Green List (High Evidence).","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:20:29.530496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2967","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP2 were changed from  to Jaberi-Elahi syndrome, MIM#617988","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:20:03.572950+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2966","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTPBP2 were set to ","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:19:32.987502+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2965","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTPBP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T15:19:02.504897+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2964","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 29449720, 30790272; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T09:02:08.609627+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.843","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families with this neurodevelopmental syndrome, seizures are a feature. \nSources: Expert list; to: Six unrelated families with this neurodevelopmental syndrome, seizures are a feature. \r\nSources: Expert list","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-06T09:01:57.022100+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.843","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GTPBP2: Changed publications: 26675814, 29449720, 30790272","entity_name":"GTPBP2","entity_type":"gene"},{"created":"2020-09-05T18:36:59.488679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNB1 as ready","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:59.478976+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb1 has been classified as Green List (High Evidence).","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:52.899941+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2964","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNB1 as ready","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:52.891274+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2964","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb1 has been classified as Green List (High Evidence).","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:47.774000+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2964","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNB1 were changed from  to Mental retardation, autosomal dominant 42, MIM# 616973","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:22.956561+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2963","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNB1 were set to ","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:36:00.490745+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNB1 were changed from  to Mental retardation, autosomal dominant 42, MIM# 616973","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:35:47.336514+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4234","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNB1 were set to ","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:35:32.551652+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2962","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:35:29.090122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4233","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:35:02.857359+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2961","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:34:11.837111+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4232","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:30:01.269681+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNB1 as ready","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:30:01.253475+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gnb1 has been classified as Green List (High Evidence).","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:29:54.990995+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GNB1 were changed from Mental retardation, autosomal dominant 42; Myoclonus dystonia to Mental retardation, autosomal dominant 42, MIM# 616973; Myoclonus dystonia","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:29:41.568714+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GNB1 were set to 30194818","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:29:19.962136+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GNB1: Changed rating: GREEN","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:29:14.176878+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GNB1: Rating: RED; Mode of pathogenicity: None; Publications: 27108799, 30194818, 27668284, 31034681; Phenotypes: Mental retardation, autosomal dominant 42, MIM# 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GNB1","entity_type":"gene"},{"created":"2020-09-05T18:20:33.009322+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJC2 as ready","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-09-05T18:20:32.998859+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Green List (High Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-09-05T18:20:18.314118+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJC2 as Green List (high evidence)","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-09-05T18:20:18.303965+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjc2 has been classified as Green List (High Evidence).","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-09-05T18:20:08.922377+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GJC2 was added\ngene: GJC2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJC2 were set to 15192806; 18094336\nPhenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM#\t608804\nReview for gene: GJC2 was set to GREEN\nAdded comment: Complex CNS involvement manifesting as nystagmus, impaired motor development, ataxia, choreoathetotic movements, dystonia, dysarthria, and progressive spasticity, in addition to intellectual disability. Multiple families reported. \nSources: Expert list","entity_name":"GJC2","entity_type":"gene"},{"created":"2020-09-05T18:14:49.763775+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GBA as ready","entity_name":"GBA","entity_type":"gene"},{"created":"2020-09-05T18:14:49.753844+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2020-09-05T18:14:45.639861+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GBA as Green List (high evidence)","entity_name":"GBA","entity_type":"gene"},{"created":"2020-09-05T18:14:45.630324+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gba has been classified as Green List (High Evidence).","entity_name":"GBA","entity_type":"gene"},{"created":"2020-09-05T18:14:37.518733+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GBA were set to 27789132\nPhenotypes for gene: GBA were set to Gaucher disease, type III, MIM#\t231000\nReview for gene: GBA was set to GREEN\nAdded comment: Dystonia-like hyperkinetic movement disorder reported in GD3. \nSources: Expert list","entity_name":"GBA","entity_type":"gene"},{"created":"2020-09-05T18:04:35.935128+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXG1 as ready","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-05T18:04:35.925205+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxg1 has been classified as Green List (High Evidence).","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-05T18:04:33.116794+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FOXG1 were set to ","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-05T18:04:21.589878+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27029630; Phenotypes: Rett syndrome, congenital variant, MIM# 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FOXG1","entity_type":"gene"},{"created":"2020-09-05T17:58:16.504478+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2961","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FITM2 as ready","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T17:58:16.495230+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T17:58:11.755613+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2961","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FITM2 as Green List (high evidence)","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T17:58:11.748162+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2961","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fitm2 has been classified as Green List (High Evidence).","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T17:57:46.824443+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2960","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635\nReview for gene: FITM2 was set to GREEN\nAdded comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from three unrelated families reported, supportive Drosophila model. \nSources: Expert list","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T17:55:44.623266+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FITM2 was added\ngene: FITM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list\nMode of inheritance for gene: FITM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FITM2 were set to 28067622; 30214770; 30288795\nPhenotypes for gene: FITM2 were set to Siddiqi syndrome MIM#618635\nReview for gene: FITM2 was set to GREEN\nAdded comment: Autosomal recessive condition characterised by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index (BMI). More variable features may include ichthyosis-like skin abnormalities or sensory neuropathy. 7 individuals from 3 unrelated families reported, supportive Drosophila model. \nSources: Expert list","entity_name":"FITM2","entity_type":"gene"},{"created":"2020-09-05T14:56:10.841011+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP27A1 as ready","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:56:10.833212+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp27a1 has been classified as Green List (High Evidence).","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:56:00.408278+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYP27A1 were changed from Cholestanol storage disease; Dystonia to Cerebrotendinous xanthomatosis, MIM# 213700; Cholestanol storage disease; Dystonia","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:55:48.423274+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYP27A1 were set to ","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:55:36.723736+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CYP27A1: Changed rating: GREEN","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:55:30.271514+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CYP27A1: Rating: ; Mode of pathogenicity: None; Publications: 19373932, 21531161, 25424010; Phenotypes: Cerebrotendinous xanthomatosis, MIM# 213700; Mode of inheritance: None","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2020-09-05T14:49:33.667344+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CP as ready","entity_name":"CP","entity_type":"gene"},{"created":"2020-09-05T14:49:33.658461+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cp has been classified as Green List (High Evidence).","entity_name":"CP","entity_type":"gene"},{"created":"2020-09-05T14:49:31.760043+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CP were changed from Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290 to Aceruloplasminaemia, MIM#604290","entity_name":"CP","entity_type":"gene"},{"created":"2020-09-05T14:49:10.811133+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CP: Iron deposition in brain, specifically in basal ganglia, resulting in extrapyramidal movement disorders as part of the neurodegenerative phenotype.","entity_name":"CP","entity_type":"gene"},{"created":"2020-09-05T14:40:44.312686+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLN3 as ready","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-09-05T14:40:44.302180+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Green List (High Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-09-05T14:40:40.718552+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CLN3 as Green List (high evidence)","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-09-05T14:40:40.708652+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cln3 has been classified as Green List (High Evidence).","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-09-05T14:40:21.167805+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CLN3 was added\ngene: CLN3 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLN3 were set to 19353721\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3\t204200\nReview for gene: CLN3 was set to GREEN\nAdded comment: Movement disorders, including dystonia, are a feature of Batten disease. \nSources: Expert list","entity_name":"CLN3","entity_type":"gene"},{"created":"2020-09-05T14:32:30.279765+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myotonia congenita, dominant, MIM# 160800, Myotonia congenita, recessive, MIM# 255700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CLCN1","entity_type":"gene"},{"created":"2020-09-05T14:26:31.618407+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia. \nSources: Expert list; to: Four unrelated individuals reported with variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia. \r\nSources: Expert list","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:26:14.756443+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1G as ready","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:26:14.747396+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1g has been classified as Green List (High Evidence).","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:26:11.816364+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CACNA1G as Green List (high evidence)","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:26:11.805634+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1g has been classified as Green List (High Evidence).","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:26:01.983038+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CACNA1G was added\ngene: CACNA1G was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1G were set to 29878067\nPhenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, MIM#\t618087\nReview for gene: CACNA1G was set to GREEN\nAdded comment: Variable spasticity, hypertonia, or dystonia of the limbs in addition to intellectual disability and ataxia. \nSources: Expert list","entity_name":"CACNA1G","entity_type":"gene"},{"created":"2020-09-05T14:23:07.453054+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C9orf72 as ready","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-05T14:23:07.442931+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-05T14:23:03.288375+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C9orf72 as Green List (high evidence)","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-05T14:23:03.280396+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c9orf72 has been classified as Green List (High Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-05T14:22:13.689031+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C9orf72 was added\ngene: C9orf72 was added to Dystonia - complex. Sources: Expert list\nSTR tags were added to gene: C9orf72.\nMode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: C9orf72 were set to 26166205; 24363131; 26187722\nPhenotypes for gene: C9orf72 were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, MIM# 105550\nReview for gene: C9orf72 was set to GREEN\nAdded comment: Dystonia is a well described feature of this condition. Note condition is caused by heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene. \nSources: Expert list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-09-05T14:09:13.455383+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AUH as ready","entity_name":"AUH","entity_type":"gene"}]}