{"count":220790,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1598","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1596","results":[{"created":"2020-09-11T20:01:47.682194+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CBL was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T20:01:26.974081+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T20:00:52.114654+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T20:00:04.334053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBL as ready","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T20:00:04.325260+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbl has been classified as Green List (High Evidence).","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:59:57.585845+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBL were changed from  to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:59:40.448925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBL were set to ","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:59:19.513213+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CBL was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:59:04.159448+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4328","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:58:45.138729+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4327","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:57:43.866349+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CBL as ready","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:57:43.848767+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cbl has been classified as Green List (High Evidence).","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:57:30.915266+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CBL were changed from  to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:57:13.921356+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CBL were set to ","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:56:47.111744+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: CBL was changed from  to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:56:17.596983+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CBL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:55:45.948620+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 25358541, 20619386, 20543203, 20694012; Phenotypes: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2020-09-11T19:03:44.037194+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: BRAF: Changed mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:03:11.197575+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:03:11.175073+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:03:03.792704+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from Cardiofaciocutaneous Syndrome; LEOPARD Syndrome; Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM; Cardio-facio-cutaneous syndrome; LEOPARD syndrome 3; Noonan Syndrome; LEOPARD syndrome 3 613707 to Noonan syndrome 7 613706; Cardiofaciocutaneous syndrome 115150; syndromic HCM","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:01:20.129049+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRAF as ready","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:01:20.119908+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: braf has been classified as Green List (High Evidence).","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:01:17.288827+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRAF were changed from  to Noonan syndrome 7, MIM# 613706; Cardiofaciocutaneous syndrome, MIM# 115150","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:00:45.085867+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRAF were set to ","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T19:00:17.469231+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T18:59:54.127552+10:00","panel_name":"Rasopathy","panel_id":164,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19206169, 18042262; Phenotypes: Noonan syndrome 7, MIM# 613706, Cardiofaciocutaneous syndrome, MIM# 115150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BRAF","entity_type":"gene"},{"created":"2020-09-11T17:46:30.967708+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4327","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK1D as ready","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:46:30.955878+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4327","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1d has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:46:24.704727+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4327","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSNK1D were changed from  to Advanced sleep-phase syndrome, familial, 2, MIM# 615224","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:46:06.492654+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4326","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSNK1D were set to ","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:45:47.959026+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4325","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSNK1D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:45:32.888531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSNK1D as Amber List (moderate evidence)","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:45:32.878322+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4324","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk1d has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:45:17.389203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4323","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 15800623, 23636092; Phenotypes: Advanced sleep-phase syndrome, familial, 2, MIM# 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CSNK1D","entity_type":"gene"},{"created":"2020-09-11T17:36:50.890237+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4323","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1E as ready","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:36:50.879987+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4323","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1e has been classified as Green List (High Evidence).","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:36:44.325215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4323","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1E were changed from  to Epileptic encephalopathy, early infantile, 69, MIM#618285","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:36:25.363570+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4322","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1E were set to ","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:36:08.267962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4321","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1E was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:35:51.152135+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4320","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability.; to: At least 30 unrelated patients reported with heterozygous variants in this gene; primarily a seizure disorder, often with profound intellectual disability. Additional common features included spastic quadriplegia, hyperreflexia, hyperkinetic movements, dystonia, myoclonus, clonus, poor or absent eye contact, nystagmus, cortical visual impairment, and loss of head control. Thirteen patients had congenital contractures and 13 had macrocephaly. ","entity_name":"CACNA1E","entity_type":"gene"},{"created":"2020-09-11T17:31:59.049354+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CACNA1S as ready","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:31:59.037902+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cacna1s has been classified as Green List (High Evidence).","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:31:56.134233+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CACNA1S were changed from  to Hypokalemic periodic paralysis, type 1, MIM# 170400","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:31:28.502686+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CACNA1S were set to ","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:31:04.731361+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:30:37.788662+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: 11591859; Phenotypes: Hypokalemic periodic paralysis, type 1, MIM# 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2020-09-11T17:28:01.591211+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:28:01.578810+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Green List (High Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:27:25.783612+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7B were changed from Wilson disease 277900; Dystonia to Wilson disease, MIM# 277900; Dystonia","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:27:15.757181+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP7B were set to ","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:27:03.651441+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32662046; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:26:24.732852+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7B as ready","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:26:24.719036+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Red List (Low Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:25:46.012605+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7B were changed from  to Wilson disease, MIM# 277900","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:25:21.269124+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP7B were set to ","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:24:52.737141+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:24:19.395962+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP7B as Red List (low evidence)","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:24:19.384676+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7b has been classified as Red List (Low Evidence).","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:23:52.423244+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: None; Publications: 32662046; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP7B","entity_type":"gene"},{"created":"2020-09-11T17:17:20.870674+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD1 as ready","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:17:20.860272+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Green List (High Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:17:04.830647+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATAD1 were changed from  to Hyperekplexia 4, MIM#618011","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:16:19.658531+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4319","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATAD1 were set to ","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:15:54.185778+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4318","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ATAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:15:38.132221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4317","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Severe progressive neurological disorder, severe/profound intellectual disability is a feature; to: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. Severe progressive neurological disorder, severe/profound intellectual disability is a feature.","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:15:14.148225+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4317","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATAD1: Changed publications: 28180185, 29390050, 29659736","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:14:29.423256+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD1 as ready","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:14:29.408485+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Green List (High Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:14:25.115077+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD1 as Green List (high evidence)","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:14:25.104762+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Green List (High Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:13:57.879172+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATAD1 was added\ngene: ATAD1 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD1 were set to 28180185; 29390050; 29659736\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011\nReview for gene: ATAD1 was set to GREEN\nAdded comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. \nSources: Expert list","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:11:11.219070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4317","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ADAT1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-09-11T17:09:29.938362+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:ADAT1 from the panel","entity_name":null,"entity_type":null},{"created":"2020-09-11T17:08:40.785694+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATAD1 as ready","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:08:40.776521+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Green List (High Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:08:36.759101+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATAD1 as Green List (high evidence)","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:08:36.748151+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atad1 has been classified as Green List (High Evidence).","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:07:41.122080+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.853","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ATAD1 was added\ngene: ATAD1 was added to Genetic Epilepsy. Sources: Expert list\nMode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD1 were set to 28180185; 29390050; 29659736\nPhenotypes for gene: ATAD1 were set to Hyperekplexia 4, MIM#618011\nReview for gene: ATAD1 was set to GREEN\nAdded comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. \nSources: Expert list","entity_name":"ATAD1","entity_type":"gene"},{"created":"2020-09-11T17:05:31.790658+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4316","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAT1 as ready","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:05:31.781524+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adat1 has been classified as Green List (High Evidence).","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:05:23.403326+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4316","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAT1 as Green List (high evidence)","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:05:23.394997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4316","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adat1 has been classified as Green List (High Evidence).","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:05:08.278523+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4315","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAT1 was added\ngene: ADAT1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: ADAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAT1 were set to 28180185; 29390050; 29659736\nPhenotypes for gene: ADAT1 were set to Hyperekplexia 4, MIM#618011\nReview for gene: ADAT1 was set to GREEN\nAdded comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. \nSources: Expert list","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:03:43.487557+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAT1 as ready","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:03:43.478180+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adat1 has been classified as Green List (High Evidence).","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:03:38.212660+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAT1 as Green List (high evidence)","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:03:38.204191+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adat1 has been classified as Green List (High Evidence).","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T17:03:11.930570+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAT1 was added\ngene: ADAT1 was added to Paroxysmal Dyskinesia. Sources: Expert list\nMode of inheritance for gene: ADAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAT1 were set to 28180185; 29390050; 29659736\nPhenotypes for gene: ADAT1 were set to Hyperekplexia 4, MIM#618011\nReview for gene: ADAT1 was set to GREEN\nAdded comment: Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Three unrelated families reported. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures. \nSources: Expert list","entity_name":"ADAT1","entity_type":"gene"},{"created":"2020-09-11T16:29:38.094593+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCA2 as ready","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:29:38.086007+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oca2 has been classified as Green List (High Evidence).","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:29:35.255548+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCA2 were changed from  to Albinism, brown oculocutaneous, MIM# 203200; Albinism, oculocutaneous, type II, MIM# 203200","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:29:08.256145+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OCA2 were set to ","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:28:44.781593+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OCA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:28:20.797580+10:00","panel_name":"Ocular and Oculocutaneous Albinism","panel_id":37,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32741191, 20301410; Phenotypes: Albinism, brown oculocutaneous, MIM# 203200, Albinism, oculocutaneous, type II, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:10:33.016194+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4314","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCA2 were changed from [Skin/hair/eye pigmentation 1, blond/brown hair] 227220; [Skin/hair/eye pigmentation 1, blue/nonblue eyes] 227220; Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous to Albinism, brown oculocutaneous 203200; Albinism, oculocutaneous, type II 203200; autosomal dominant Albinism, oculocutaneous","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:08:57.200219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4313","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: OCA2 were set to 32741191; 24518832","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:05:21.085660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4312","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: OCA2.","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:04:14.744808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4312","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCA2 as ready","entity_name":"OCA2","entity_type":"gene"},{"created":"2020-09-11T16:04:14.731513+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4312","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: oca2 has been classified as Green List (High Evidence).","entity_name":"OCA2","entity_type":"gene"}]}