{"count":220504,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2026","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2024","results":[{"created":"2019-12-28T08:42:32.259891+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COQ5 as Red List (low evidence)","entity_name":"COQ5","entity_type":"gene"},{"created":"2019-12-28T08:42:32.248956+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.431","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coq5 has been classified as Red List (Low Evidence).","entity_name":"COQ5","entity_type":"gene"},{"created":"2019-12-28T08:42:12.242846+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COQ5: Rating: RED; Mode of pathogenicity: None; Publications: 29044765; Phenotypes: Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ5","entity_type":"gene"},{"created":"2019-12-28T08:30:44.936773+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEF2 as ready","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:30:44.924599+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Red List (Low Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:30:06.739790+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from  to Spinocerebellar ataxia 26","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:29:47.732568+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EEF2 were set to ","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:29:28.586848+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:29:09.386168+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Red List (low evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:29:09.318537+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Red List (Low Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:28:37.028746+11:00","panel_name":"Regression_VCGS","panel_id":206,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:27:44.680096+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EEF2 as ready","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:27:44.669551+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Red List (Low Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:27:34.583454+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.430","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EEF2 were changed from  to Spinocerebellar ataxia 26","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:27:18.386051+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.429","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EEF2 were set to ","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:27:02.941072+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.428","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EEF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:26:43.491772+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.427","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EEF2 as Red List (low evidence)","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:26:43.478102+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.427","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eef2 has been classified as Red List (Low Evidence).","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-28T08:26:24.324503+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EEF2: Rating: RED; Mode of pathogenicity: None; Publications: 15732118, 23001565; Phenotypes: Spinocerebellar ataxia 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"EEF2","entity_type":"gene"},{"created":"2019-12-27T17:37:38.897111+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: YY1 was added\ngene: YY1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557","entity_name":"YY1","entity_type":"gene"},{"created":"2019-12-27T17:37:38.826669+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR73 was added\ngene: WDR73 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR73 were set to Galloway-Mowat syndrome 1, 251300","entity_name":"WDR73","entity_type":"gene"},{"created":"2019-12-27T17:37:38.756531+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WDR45 was added\ngene: WDR45 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5 300894; beta-propeller protein-associated neurodegeneration; Dystonia","entity_name":"WDR45","entity_type":"gene"},{"created":"2019-12-27T17:37:38.686609+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VPS13A was added\ngene: VPS13A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13A were set to complex parkinsonism; Choreoacanthocytosis 200150","entity_name":"VPS13A","entity_type":"gene"},{"created":"2019-12-27T17:37:38.617561+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VAC14 was added\ngene: VAC14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054","entity_name":"VAC14","entity_type":"gene"},{"created":"2019-12-27T17:37:38.480390+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TPK1 was added\ngene: TPK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPK1 were set to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type); Dystonia","entity_name":"TPK1","entity_type":"gene"},{"created":"2019-12-27T17:37:38.410698+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TOR1AIP1 was added\ngene: TOR1AIP1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1AIP1 were set to 25425325\nPhenotypes for gene: TOR1AIP1 were set to Dystonia, cerebellar atrophy, and cardiomyopathy","entity_name":"TOR1AIP1","entity_type":"gene"},{"created":"2019-12-27T17:37:38.262139+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TIMM8A was added\ngene: TIMM8A was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: TIMM8A was set to \nPhenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2019-12-27T17:37:37.990566+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SYNJ1 was added\ngene: SYNJ1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset","entity_name":"SYNJ1","entity_type":"gene"},{"created":"2019-12-27T17:37:37.916108+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SUCLA2 was added\ngene: SUCLA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SUCLA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUCLA2 were set to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria); Dystonia","entity_name":"SUCLA2","entity_type":"gene"},{"created":"2019-12-27T17:37:37.780662+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC6A3 was added\ngene: SLC6A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A3 were set to Dopamine transporter deficiency; Parkinsonism-dystonia, infantile, 613135","entity_name":"SLC6A3","entity_type":"gene"},{"created":"2019-12-27T17:37:37.706408+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC39A14 was added\ngene: SLC39A14 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2019-12-27T17:37:37.633541+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC30A10 was added\ngene: SLC30A10 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2019-12-27T17:37:37.490072+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC20A2 was added\ngene: SLC20A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC20A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC20A2 were set to Basal ganglia calcification, idiopathic, 1 213600; Dystonia","entity_name":"SLC20A2","entity_type":"gene"},{"created":"2019-12-27T17:37:37.420695+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC19A3 was added\ngene: SLC19A3 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) 607483; Dystonia","entity_name":"SLC19A3","entity_type":"gene"},{"created":"2019-12-27T17:37:37.279496+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SERAC1 was added\ngene: SERAC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; Lesions in the basal ganglia","entity_name":"SERAC1","entity_type":"gene"},{"created":"2019-12-27T17:37:37.207506+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: QDPR was added\ngene: QDPR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630; Dihydropteridine reductase deficiency; Dystonia","entity_name":"QDPR","entity_type":"gene"},{"created":"2019-12-27T17:37:37.138329+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTS was added\ngene: PTS was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640; 6-Pyruvoyltetrahydropterin Synthase Deficiency; Dystonia","entity_name":"PTS","entity_type":"gene"},{"created":"2019-12-27T17:37:37.064235+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN1 was added\ngene: PSEN1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PSEN1 were set to 28664294; 12810495; 15159497; 29316780\nPhenotypes for gene: PSEN1 were set to Frontotemporal dementia; Dystonia","entity_name":"PSEN1","entity_type":"gene"},{"created":"2019-12-27T17:37:36.847611+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PRKN was added\ngene: PRKN was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRKN were set to juvenile parkinsonism/dystonia; Parkinson disease, juvenile, type 2; Dystonia","entity_name":"PRKN","entity_type":"gene"},{"created":"2019-12-27T17:37:36.710273+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLA2G6 was added\ngene: PLA2G6 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PLA2G6 were set to Parkinson disease 14, autosomal recessive 612953; PLA2G6-associated neurodegeneration; Neurodegeneration with brain iron accumulation 2B 610217; Infantile neuroaxonal dystrophy 1 256600","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2019-12-27T17:37:36.638611+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PINK1 was added\ngene: PINK1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PINK1 were set to Parkinson disease 6, early onset; Dystonia","entity_name":"PINK1","entity_type":"gene"},{"created":"2019-12-27T17:37:36.570186+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDGFRB was added\ngene: PDGFRB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDGFRB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFRB were set to Dystonia; Basal ganglia calcification, idiopathic, 4 615007","entity_name":"PDGFRB","entity_type":"gene"},{"created":"2019-12-27T17:37:36.499776+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PDGFB was added\ngene: PDGFB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PDGFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDGFB were set to Basal ganglia calcification, idiopathic, 5 615483","entity_name":"PDGFB","entity_type":"gene"},{"created":"2019-12-27T17:37:36.428618+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PANK2 was added\ngene: PANK2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration; Dystonia","entity_name":"PANK2","entity_type":"gene"},{"created":"2019-12-27T17:37:36.357013+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPC2 was added\ngene: NPC2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-Pick disease type C2; Dystonia","entity_name":"NPC2","entity_type":"gene"},{"created":"2019-12-27T17:37:36.289208+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NPC1 was added\ngene: NPC1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease type C1","entity_name":"NPC1","entity_type":"gene"},{"created":"2019-12-27T17:37:36.221688+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NKX6-2 was added\ngene: NKX6-2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560","entity_name":"NKX6-2","entity_type":"gene"},{"created":"2019-12-27T17:37:35.878428+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HTRA2 was added\ngene: HTRA2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248","entity_name":"HTRA2","entity_type":"gene"},{"created":"2019-12-27T17:37:35.807508+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HPRT1 was added\ngene: HPRT1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome; Dystonia","entity_name":"HPRT1","entity_type":"gene"},{"created":"2019-12-27T17:37:35.677835+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNB1 was added\ngene: GNB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GNB1 were set to 30194818\nPhenotypes for gene: GNB1 were set to Mental retardation, autosomal dominant 42; Myoclonus dystonia","entity_name":"GNB1","entity_type":"gene"},{"created":"2019-12-27T17:37:35.610416+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GNAO1 was added\ngene: GNAO1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493","entity_name":"GNAO1","entity_type":"gene"},{"created":"2019-12-27T17:37:35.480294+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLB1 was added\ngene: GLB1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Infantile GM1 gangliosidosis","entity_name":"GLB1","entity_type":"gene"},{"created":"2019-12-27T17:37:35.330760+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCDH was added\ngene: GCDH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GCDH were set to Glutaric aciduria, type 1; Dystonia","entity_name":"GCDH","entity_type":"gene"},{"created":"2019-12-27T17:37:35.259038+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FTL was added\ngene: FTL was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3 606159","entity_name":"FTL","entity_type":"gene"},{"created":"2019-12-27T17:37:35.192783+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FOXG1 was added\ngene: FOXG1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FOXG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FOXG1 were set to Rett syndrome, congenital variant; Dystonia","entity_name":"FOXG1","entity_type":"gene"},{"created":"2019-12-27T17:37:35.125865+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBXO7 was added\ngene: FBXO7 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXO7 were set to juvenile parkinsonism; Dystonia","entity_name":"FBXO7","entity_type":"gene"},{"created":"2019-12-27T17:37:35.060959+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FA2H was added\ngene: FA2H was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FA2H were set to Dystonia; Spastic paraplegia 35, autosomal recessive 612319; fatty acid hydroxylase-associated neurodegeneration","entity_name":"FA2H","entity_type":"gene"},{"created":"2019-12-27T17:37:34.897981+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DNAJC12 was added\ngene: DNAJC12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DNAJC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DNAJC12 were set to Hyperphenylalaninemia, mild, non-BH4-deficient, 617384","entity_name":"DNAJC12","entity_type":"gene"},{"created":"2019-12-27T17:37:34.828641+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DLAT was added\ngene: DLAT was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DLAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLAT were set to Pyruvate dehydrogenase E2 deficiency 245348; Dystonia","entity_name":"DLAT","entity_type":"gene"},{"created":"2019-12-27T17:37:34.758881+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DDC was added\ngene: DDC was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643; Dystonia","entity_name":"DDC","entity_type":"gene"},{"created":"2019-12-27T17:37:34.692316+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DCAF17 was added\ngene: DCAF17 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome; Dystonia","entity_name":"DCAF17","entity_type":"gene"},{"created":"2019-12-27T17:37:34.624995+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP27A1 was added\ngene: CYP27A1 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cholestanol storage disease; Dystonia","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2019-12-27T17:37:34.555118+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CP was added\ngene: CP was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CP were set to Hemosiderosis, systemic, due to aceruloplasminemia 604290; Dystonia; Cerebellar ataxia 604290; Aceruloplasminemia; [Hypoceruloplasminemia, hereditary] 604290","entity_name":"CP","entity_type":"gene"},{"created":"2019-12-27T17:37:34.420906+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COASY was added\ngene: COASY was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6 615643","entity_name":"COASY","entity_type":"gene"},{"created":"2019-12-27T17:37:34.283808+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHMP2B was added\ngene: CHMP2B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Red\nMode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CHMP2B were set to 20301378\nPhenotypes for gene: CHMP2B were set to familial frontotemporal lobar degeneration (ALS17); Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Dystonia","entity_name":"CHMP2B","entity_type":"gene"},{"created":"2019-12-27T17:37:34.213137+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C19orf12 was added\ngene: C19orf12 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; neurodegeneration with brain iron accumulation-4; Dystonia","entity_name":"C19orf12","entity_type":"gene"},{"created":"2019-12-27T17:37:34.144345+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BCAP31 was added\ngene: BCAP31 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475","entity_name":"BCAP31","entity_type":"gene"},{"created":"2019-12-27T17:37:34.079596+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AUH was added\ngene: AUH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-Methylglutaconic aciduria type 1; Dystonia","entity_name":"AUH","entity_type":"gene"},{"created":"2019-12-27T17:37:34.010344+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease 277900; Dystonia","entity_name":"ATP7B","entity_type":"gene"},{"created":"2019-12-27T17:37:33.880916+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP13A2 was added\ngene: ATP13A2 was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP13A2 were set to Parkinson disease; Kufor-Rakeb syndrome 606693; Dystonia","entity_name":"ATP13A2","entity_type":"gene"},{"created":"2019-12-27T17:37:33.816196+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATM was added\ngene: ATM was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATM were set to Ataxia telangiectasia; Dystonia","entity_name":"ATM","entity_type":"gene"},{"created":"2019-12-27T17:37:33.750903+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARX was added\ngene: ARX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: ARX were set to Early infantile epileptic encephalopathy; Dystonia","entity_name":"ARX","entity_type":"gene"},{"created":"2019-12-27T17:37:33.684038+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APTX was added\ngene: APTX was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: APTX were set to Ataxia-oculomotor apraxia type 1; Dystonia","entity_name":"APTX","entity_type":"gene"},{"created":"2019-12-27T17:37:33.474942+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAR was added\ngene: ADAR was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to dystonia; Aicardi-Goutieres syndrome 6, 615010","entity_name":"ADAR","entity_type":"gene"},{"created":"2019-12-27T17:37:33.408982+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTB were set to 29788902; 28487785\nPhenotypes for gene: ACTB were set to Baraitser-Winter syndrome 1, 243310; Dystonia, juvenile-onset, 607371","entity_name":"ACTB","entity_type":"gene"},{"created":"2019-12-27T17:37:33.348095+11:00","panel_name":"Dystonia - complex_RMH","panel_id":290,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Dystonia - complex_RMH","entity_name":null,"entity_type":null},{"created":"2019-12-27T16:57:50.295179+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAT2 as ready","entity_name":"FAT2","entity_type":"gene"},{"created":"2019-12-27T16:57:50.284150+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat2 has been classified as Amber List (Moderate Evidence).","entity_name":"FAT2","entity_type":"gene"},{"created":"2019-12-27T16:57:40.348117+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAT2 as Amber List (moderate evidence)","entity_name":"FAT2","entity_type":"gene"},{"created":"2019-12-27T16:57:40.337207+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fat2 has been classified as Amber List (Moderate Evidence).","entity_name":"FAT2","entity_type":"gene"},{"created":"2019-12-27T16:57:05.073262+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.425","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FAT2 was added\ngene: FAT2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: FAT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAT2 were set to 29053796\nPhenotypes for gene: FAT2 were set to Spinocerebellar ataxia 45, MIM#617769\nReview for gene: FAT2 was set to AMBER\nAdded comment: Segregates in one family, and identified in one apparently sporadic case. In vitro functional evidence. \nSources: Expert list","entity_name":"FAT2","entity_type":"gene"},{"created":"2019-12-27T16:09:33.429302+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDAP2 as ready","entity_name":"GDAP2","entity_type":"gene"},{"created":"2019-12-27T16:09:33.418273+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdap2 has been classified as Green List (High Evidence).","entity_name":"GDAP2","entity_type":"gene"},{"created":"2019-12-27T16:09:22.801475+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDAP2 as Green List (high evidence)","entity_name":"GDAP2","entity_type":"gene"},{"created":"2019-12-27T16:09:22.789357+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdap2 has been classified as Green List (High Evidence).","entity_name":"GDAP2","entity_type":"gene"},{"created":"2019-12-27T16:08:49.553006+11:00","panel_name":"Mendeliome_VCGS","panel_id":137,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDAP2 was added\ngene: GDAP2 was added to Mendeliome_VCGS. Sources: Expert list\nMode of inheritance for gene: GDAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GDAP2 were set to 30084953\nPhenotypes for gene: GDAP2 were set to Spinocerebellar ataxia, autosomal recessive 27, MIM#618369\nReview for gene: GDAP2 was set to GREEN\nAdded comment: Two families and animal model. \nSources: Expert list","entity_name":"GDAP2","entity_type":"gene"},{"created":"2019-12-27T15:54:16.294038+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: DOCK3 as Green List (high evidence)","entity_name":"DOCK3","entity_type":"gene"},{"created":"2019-12-27T15:54:16.283203+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.8","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dock3 has been classified as Green List (High Evidence).","entity_name":"DOCK3","entity_type":"gene"},{"created":"2019-12-27T15:54:01.754696+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DOCK3 was added\ngene: DOCK3 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: DOCK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DOCK3 were set to Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292\nReview for gene: DOCK3 was set to GREEN\nAdded comment: Ataxia is a feature of the phenotype \nSources: Expert list","entity_name":"DOCK3","entity_type":"gene"},{"created":"2019-12-27T15:30:25.349161+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ATP2B3 as ready","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2019-12-27T15:30:25.336196+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp2b3 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2019-12-27T15:30:22.162621+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATP2B3 as Amber List (moderate evidence)","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2019-12-27T15:30:22.151646+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.6","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atp2b3 has been classified as Amber List (Moderate Evidence).","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2019-12-27T15:26:48.432022+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: None; Publications: 22912398, 27653636, 27632770; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ATP2B3","entity_type":"gene"},{"created":"2019-12-27T15:11:06.175203+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARMC9: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 30, MIM#617622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ARMC9","entity_type":"gene"},{"created":"2019-12-27T15:08:08.450301+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: AP1S2 as ready","entity_name":"AP1S2","entity_type":"gene"},{"created":"2019-12-27T15:08:08.439345+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap1s2 has been classified as Green List (High Evidence).","entity_name":"AP1S2","entity_type":"gene"},{"created":"2019-12-27T15:07:52.675199+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: AP1S2 as Green List (high evidence)","entity_name":"AP1S2","entity_type":"gene"},{"created":"2019-12-27T15:07:52.664298+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.5","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ap1s2 has been classified as Green List (High Evidence).","entity_name":"AP1S2","entity_type":"gene"},{"created":"2019-12-27T15:07:39.661147+11:00","panel_name":"Ataxia - paediatric_RMH","panel_id":271,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP1S2 was added\ngene: AP1S2 was added to Ataxia - paediatric_RMH. Sources: Expert list\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5,  MIM#304340\nReview for gene: AP1S2 was set to GREEN\nAdded comment: Ataxia is part of the phenotype \nSources: Expert list","entity_name":"AP1S2","entity_type":"gene"}]}