{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1892","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1890","results":[{"created":"2020-03-30T07:37:00.439465+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.25","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 29300372, 30924982, 24714796, 30623132; Phenotypes: Cardiomyopathy, dilated, 1S 613426, Cardiomyopathy, hypertrophic, 1 192600, Laing distal myopathy 160500, Left ventricular noncompaction 5 613426, Myopathy, myosin storage, autosomal dominant 608358, Myopathy, myosin storage, autosomal recessive 255160, Scapuloperoneal syndrome, myopathic type 181430; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"MYH7","entity_type":"gene"},{"created":"2020-03-30T07:32:19.612171+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: DLG3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 28777483; Phenotypes: Mental retardation, X-linked 90; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"DLG3","entity_type":"gene"},{"created":"2020-03-30T07:27:28.517304+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID 19473076, 11068201; Phenotypes: Contractural arachnodactyly, congenital 121050, Macular degeneration, early-onset 616118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"FBN2","entity_type":"gene"},{"created":"2020-03-29T14:22:14.703886+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.25","user_name":"Crystle Lee","item_type":"entity","text":"reviewed gene: ADGRG6: Rating: GREEN; Mode of pathogenicity: None; Publications: 26004201; Phenotypes: Lethal congenital contracture syndrome 9 (MIM#616503); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADGRG6","entity_type":"gene"},{"created":"2020-03-28T17:38:33.743432+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"LAS1L","entity_type":"gene"},{"created":"2020-03-28T17:37:52.605569+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"IGHMBP2","entity_type":"gene"},{"created":"2020-03-28T17:37:11.666779+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2020-03-28T17:33:30.121418+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"DCTN1","entity_type":"gene"},{"created":"2020-03-28T17:17:13.245448+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCNF as Green List (high evidence)","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T17:17:13.232399+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T17:16:41.601098+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCNF was added\ngene: CCNF was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 27080313; 31577344\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: >3 families/cases and supporting functional evidence \nSources: Expert list","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:53:04.254794+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCNF as ready","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:53:04.245069+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:52:57.468644+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCNF as Green List (high evidence)","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:52:57.455450+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.44","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:51:20.594046+11:00","panel_name":"Early-onset Dementia","panel_id":24,"panel_version":"0.43","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCNF was added\ngene: CCNF was added to Early-onset Dementia. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 27080313\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: Four cases, within three families with FTD with/without ALS. \nSources: Expert list","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:22:01.364386+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: CCNF as ready","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:22:01.355679+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:21:48.357059+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: CCNF as Green List (high evidence)","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:21:48.348285+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ccnf has been classified as Green List (High Evidence).","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T16:16:25.745704+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCNF was added\ngene: CCNF was added to Motor Neuron Disease. Sources: Expert list\nMode of inheritance for gene: CCNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CCNF were set to 29102476; 31577344; 27080313; 28105640; 31445393; 28852778\nPhenotypes for gene: CCNF were set to amyotrophic lateral sclerosis with/without frontotemporal dementia\nReview for gene: CCNF was set to GREEN\nAdded comment: >3 cases/families and supporting functional evidence \nSources: Expert list","entity_name":"CCNF","entity_type":"gene"},{"created":"2020-03-28T15:06:02.453860+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANXA11 as Green List (high evidence)","entity_name":"ANXA11","entity_type":"gene"},{"created":"2020-03-28T15:06:02.444793+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.14","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: anxa11 has been classified as Green List (High Evidence).","entity_name":"ANXA11","entity_type":"gene"},{"created":"2020-03-28T15:05:04.838697+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"ASCC1","entity_type":"gene"},{"created":"2020-03-28T15:04:24.672319+11:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANXA11 was added\ngene: ANXA11 was added to Incidentalome. Sources: Expert list\nMode of inheritance for gene: ANXA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANXA11 were set to 28469040; 29845112; 30109997\nPhenotypes for gene: ANXA11 were set to Amytrophic lateral sclerosis 23 MIM#617839\nReview for gene: ANXA11 was set to GREEN\nAdded comment: 4 different missense variants in 10 patients from 7 unrelated families with amyotrophic lateral sclerosis and functional assays supporting association. \nSources: Expert list","entity_name":"ANXA11","entity_type":"gene"},{"created":"2020-03-28T14:35:46.640860+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ANXA11 as Green List (high evidence)","entity_name":"ANXA11","entity_type":"gene"},{"created":"2020-03-28T14:35:46.627253+11:00","panel_name":"Motor Neuron Disease","panel_id":25,"panel_version":"0.13","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: anxa11 has been classified as Green List (High Evidence).","entity_name":"ANXA11","entity_type":"gene"},{"created":"2020-03-28T14:29:07.014578+11:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.27","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Early onset Parkinson disease to Early-onset Parkinson disease\nPanel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Royal Melbourne Hospital","entity_name":null,"entity_type":null},{"created":"2020-03-28T14:21:39.091979+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: VPS13C as ready","entity_name":"VPS13C","entity_type":"gene"},{"created":"2020-03-28T14:21:39.078844+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps13c has been classified as Green List (High Evidence).","entity_name":"VPS13C","entity_type":"gene"},{"created":"2020-03-28T14:21:34.821033+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: VPS13C as Green List (high evidence)","entity_name":"VPS13C","entity_type":"gene"},{"created":"2020-03-28T14:21:34.811407+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: vps13c has been classified as Green List (High Evidence).","entity_name":"VPS13C","entity_type":"gene"},{"created":"2020-03-28T14:20:45.831062+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.25","user_name":"Bryony Thompson","item_type":"entity","text":"gene: VPS13C was added\ngene: VPS13C was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: VPS13C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS13C were set to 26942284; 30452786; 28862745\nPhenotypes for gene: VPS13C were set to Parkinson disease 23, autosomal recessive, early onset MIM#616840\nReview for gene: VPS13C was set to GREEN\nAdded comment: >3 cases with biallelic variants. \nSources: Expert list","entity_name":"VPS13C","entity_type":"gene"},{"created":"2020-03-28T14:05:19.462297+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.24","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: TWNK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-03-28T14:04:49.681589+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TWNK as ready","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-03-28T14:04:49.668020+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: twnk has been classified as Green List (High Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-03-28T14:04:12.783527+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 24076137, 22949510, 22580846, 19353676; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-03-28T09:17:43.346126+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD7 as ready","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-03-28T09:17:43.337591+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Red List (Low Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-03-28T09:17:38.968964+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CHD7 as Red List (low evidence)","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-03-28T09:17:38.945451+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd7 has been classified as Red List (Low Evidence).","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-03-28T09:17:29.176222+11:00","panel_name":"Lymphoedema_syndromic","panel_id":3098,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome, MIM# 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-03-27T09:07:06.875071+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2490","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: NAA15: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31127942; Phenotypes: Mental retardation, autosomal dominant 50, 617787 (3), NAA15-related syndrome (PMID: 31127942); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"NAA15","entity_type":"gene"},{"created":"2020-03-27T08:39:35.456940+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2490","user_name":"Sue White","item_type":"entity","text":"Classified gene: NR2F2 as Amber List (moderate evidence)","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-03-27T08:39:35.448620+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2490","user_name":"Sue White","item_type":"entity","text":"Gene: nr2f2 has been classified as Amber List (Moderate Evidence).","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-03-27T08:38:32.660883+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2489","user_name":"Sue White","item_type":"entity","text":"gene: NR2F2 was added\ngene: NR2F2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NR2F2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR2F2 were set to 29478779; 29663647\nPhenotypes for gene: NR2F2 were set to mild intellectual disability; congenital heart disease; disorder of sexual differentiation; dysmorphic features\nPenetrance for gene: NR2F2 were set to Complete\nReview for gene: NR2F2 was set to AMBER\nAdded comment: Established gene for congenital heart disease and DSD and emerging gene for ID. 2 unrelated individuals published with mild or borderline ID, dysmorphism and de novo truncating/missense variants. \nSources: Literature","entity_name":"NR2F2","entity_type":"gene"},{"created":"2020-03-26T21:09:59.402473+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK2 as ready","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:09:59.393780+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:09:55.733161+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF2AK2 as Green List (high evidence)","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:09:55.723487+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:09:26.870551+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Regression. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:08:15.133095+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-03-26T21:07:22.447069+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK2 as ready","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:07:22.437932+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:07:12.927969+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF2AK2 as Green List (high evidence)","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:07:12.914377+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1842","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:06:54.661264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1841","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:06:26.543830+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2488","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: EIF2AK2 as Green List (high evidence)","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:06:26.530696+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2488","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:05:27.643504+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2487","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK2 was added\ngene: EIF2AK2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF2AK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK2 were set to 32197074\nPhenotypes for gene: EIF2AK2 were set to Intellectual disability; white matter abnormalities; ataxia; regression with febrile illness\nReview for gene: EIF2AK2 was set to GREEN\nAdded comment: Eight individuals with de novo variants and complex neurodevelopmental phenotype. \nSources: Literature","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2020-03-26T21:03:16.448993+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK1 as ready","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T21:03:16.435083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak1 has been classified as Red List (Low Evidence).","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T21:02:59.153706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1840","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK1 was added\ngene: EIF2AK1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK1 were set to 32197074\nPhenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities\nReview for gene: EIF2AK1 was set to RED\nAdded comment: Single individual reported with de novo variant in this gene. \nSources: Literature","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T21:01:54.092927+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2486","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK1 as ready","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T21:01:54.084290+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2486","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak1 has been classified as Red List (Low Evidence).","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T21:01:46.006194+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2486","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EIF2AK1 was added\ngene: EIF2AK1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: EIF2AK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2AK1 were set to 32197074\nPhenotypes for gene: EIF2AK1 were set to Intellectual disability; white matter abnormalities\nReview for gene: EIF2AK1 was set to RED\nAdded comment: Single individual reported with de novo variant in this gene. \nSources: Literature","entity_name":"EIF2AK1","entity_type":"gene"},{"created":"2020-03-26T20:58:06.186988+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOVA2 as ready","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:58:06.173600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:57:50.288284+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:57:50.279928+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1839","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:57:31.629883+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1838","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to 32197073\nPhenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia\nMode of pathogenicity for gene: NOVA2 was set to Other\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:57:14.340411+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2485","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOVA2 as ready","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:57:14.327241+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:56:37.731024+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2485","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NOVA2 as Green List (high evidence)","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:56:37.721186+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2485","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nova2 has been classified as Green List (High Evidence).","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T20:55:49.980585+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2484","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NOVA2 was added\ngene: NOVA2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to 32197073\nPhenotypes for gene: NOVA2 were set to Intellectual disability; autism; hypotonia; spasticity; ataxia\nMode of pathogenicity for gene: NOVA2 was set to Other\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Six individuals with de novo frameshift variants resulting in C-terminal extension suggesting partial LoF as mechanism. \nSources: Literature","entity_name":"NOVA2","entity_type":"gene"},{"created":"2020-03-26T19:50:01.743257+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.23","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTS","entity_type":"gene"},{"created":"2020-03-26T19:50:00.833140+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2020-03-26T19:50:00.819767+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: pts has been classified as Green List (High Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2020-03-26T19:49:27.060935+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 11388593, 27562098; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A MIM#261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PTS","entity_type":"gene"},{"created":"2020-03-26T16:08:23.067503+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PTRHD1 as ready","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-03-26T16:08:23.058947+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptrhd1 has been classified as Green List (High Evidence).","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-03-26T16:07:50.204176+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PTRHD1 as Green List (high evidence)","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-03-26T16:07:50.195342+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.22","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ptrhd1 has been classified as Green List (High Evidence).","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-03-26T16:07:20.118206+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.21","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PTRHD1 was added\ngene: PTRHD1 was added to Early onset Parkinson disease. Sources: Expert list\nMode of inheritance for gene: PTRHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTRHD1 were set to 27753167; 27134041; 30398675; 29143421\nPhenotypes for gene: PTRHD1 were set to early-onset parkinsonism; intellectual disability\nReview for gene: PTRHD1 was set to GREEN\nAdded comment: Homozygous variants segregate in three unrelated families from Iran and South Africa. No functional assays conducted. \nSources: Expert list","entity_name":"PTRHD1","entity_type":"gene"},{"created":"2020-03-26T14:30:11.343792+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: KIF5A as ready","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-26T14:30:11.334713+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kif5a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-26T14:30:07.775869+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: KIF5A as Amber List (moderate evidence)","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-26T14:30:07.763001+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: kif5a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-26T14:29:37.289059+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: None; Publications: 18853458; Phenotypes: Spastic paraplegia 10, autosomal dominant MIM#604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF5A","entity_type":"gene"},{"created":"2020-03-26T14:19:41.307954+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as Red List (low evidence)","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:19:41.303913+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:19:41.284021+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been classified as Red List (Low Evidence).","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:19:00.406998+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Parkinsonism is a common feature of the condition. A repeat expansion is the cause of disease for this gene.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:17:52.911520+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.; to: Comment on list classification: A repeat expansion is the cause of disease for this gene, which is currently not detectable by NGS.","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:17:33.281315+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: C9orf72: Changed rating: GREEN; Changed publications: 31779815; Changed phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 MIM#105550; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-03-26T14:15:08.040095+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: HTT as ready","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T14:15:08.030645+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: htt has been classified as Red List (Low Evidence).","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T14:15:05.412960+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: HTT as Red List (low evidence)","entity_name":"HTT","entity_type":"gene"},{"created":"2020-03-26T14:15:05.408833+11:00","panel_name":"Early onset Parkinson disease","panel_id":26,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"Added comment: Comment on list classification: Parkinsonism is a feature of Huntingtons. This repeat expansion is not detectable by current NGS technology.","entity_name":"HTT","entity_type":"gene"}]}