{"count":220482,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1281","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1279","results":[{"created":"2021-07-03T16:59:27.558711+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT172: Changed publications: 30761183, 26763875, 25168386, 24140113, 25168386; Changed phenotypes: Bardet-Biedl syndrome, Retinitis pigmentosa 71, MIM# 616394, Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T15:41:23.629254+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EVC as ready","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-03T15:41:23.618125+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: evc has been classified as Green List (High Evidence).","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-03T15:41:16.755403+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.356","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EVC were changed from  to Ellis-van Creveld syndrome, MIM# 225500","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-03T15:40:34.349757+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EVC were set to ","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-03T15:40:07.804211+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EVC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-03T15:28:16.921779+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2LI1 as ready","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:28:16.911658+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2li1 has been classified as Green List (High Evidence).","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:28:13.780195+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2LI1 were changed from  to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:27:44.248341+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2LI1 were set to ","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:27:04.195759+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DYNC2LI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33030252; Phenotypes: Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:25:40.180763+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2LI1 as ready","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:25:40.170357+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2li1 has been classified as Green List (High Evidence).","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:25:37.077975+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2LI1 were changed from  to Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088)","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:25:04.169261+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.352","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2LI1 were set to ","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T15:24:40.968826+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.351","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC2LI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2LI1","entity_type":"gene"},{"created":"2021-07-03T14:17:54.536561+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2H1 as ready","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:17:54.526185+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Green List (High Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:17:49.172462+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2H1 were changed from  to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:17:21.408243+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2H1 were set to ","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:16:49.539272+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:15:56.751577+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2H1 as ready","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:15:56.741604+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Green List (High Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:15:54.037551+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2H1 were changed from  to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:15:31.333545+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2H1 were set to ","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:15:08.338646+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:14:43.299012+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:14:34.834087+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2H1 as ready","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:14:34.820209+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Green List (High Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:13:53.027000+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DYNC2H1 as ready","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:13:53.014286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dync2h1 has been classified as Green List (High Evidence).","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:13:45.449853+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2H1 were changed from  to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:13:25.428557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2H1 were set to ","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:13:04.638815+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:12:45.544413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8172","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:12:43.029126+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.350","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DYNC2H1 were changed from  to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; MONDO:0013127","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:12:06.344157+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DYNC2H1 were set to ","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:11:35.407079+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DYNC2H1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:11:11.095026+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: DYNC2H1: Changed phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091, MONDO:0013127","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:10:34.237933+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DYNC2H1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19442771, 19361615, 22499340, 23456818, 27925158; Phenotypes: Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DYNC2H1","entity_type":"gene"},{"created":"2021-07-03T14:05:55.977713+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX59 as ready","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:05:55.968396+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Amber List (Moderate Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:05:53.000188+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX59 were changed from  to Orofaciodigital syndrome V (MIM#174300)","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:05:20.409633+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX59 were set to ","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:04:56.237208+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:04:33.070585+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DDX59 as Amber List (moderate evidence)","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:04:33.059972+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Amber List (Moderate Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:04:08.216820+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDX59: Rating: AMBER; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T14:00:34.764119+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3918","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:59:51.314568+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX59 as ready","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:59:51.275521+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Green List (High Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:59:46.763382+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX59 were changed from  to Orofaciodigital syndrome V (MIM#174300)","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:59:24.108173+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.215","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX59 were set to ","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:58:49.850705+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.214","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:57:54.326414+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX59 as ready","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:57:54.316556+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Green List (High Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:56:44.914012+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX59 were changed from  to Orofaciodigital syndrome V (MIM#174300)","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:56:21.585379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX59 were set to ","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:55:53.394388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:55:37.116290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8169","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDX59: Rating: GREEN; Mode of pathogenicity: None; Publications: 29127725, 23972372, 28711741; Phenotypes: Orofaciodigital syndrome V (MIM#174300); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:55:10.883443+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DDX59 as ready","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:55:10.873197+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ddx59 has been classified as Green List (High Evidence).","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:55:00.496133+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DDX59 were changed from  to Orofaciodigital syndrome V (MIM#174300)","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:54:34.531129+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDX59 were set to ","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:54:17.870167+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.345","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDX59 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDX59","entity_type":"gene"},{"created":"2021-07-03T13:53:16.221278+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:53:16.211928+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:53:01.666810+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP83 as Green List (high evidence)","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:53:01.652227+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:52:51.376286+10:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP83 was added\ngene: CEP83 was added to Additional findings_Paediatric. Sources: Expert Review\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 24882706; 33938610\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID\nReview for gene: CEP83 was set to GREEN\nAdded comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.\r\n\r\nPMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. \nSources: Expert Review","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:50:38.046966+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:50:38.036814+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:50:33.970008+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP83 as Green List (high evidence)","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:50:33.960000+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-03T13:50:21.267248+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP83 was added\ngene: CEP83 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review\nMode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP83 were set to 24882706; 33938610\nPhenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID\nReview for gene: CEP83 was set to GREEN\nAdded comment: PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.\r\n\r\nPMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease. \nSources: Expert Review","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:57:08.507121+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:57:08.496495+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:57:03.893598+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3917","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP83 were changed from  to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:56:37.107421+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3916","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP83 were set to ","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:56:10.082004+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3915","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:55:40.638925+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3914","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:54:49.546757+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:54:49.536739+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:53:46.072044+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP83 were changed from  to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:53:16.670002+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP83 were set to ","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:52:45.509259+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:51:56.866019+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:51:12.571932+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:51:12.561175+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:51:02.151167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP83 were changed from  to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:50:33.954156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP83 were set to ","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:50:14.716610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T19:49:48.505030+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706, 33938610; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:43:02.972855+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:43:02.956928+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep83 has been classified as Green List (High Evidence).","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:43:00.660801+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP83 were changed from  to Nephronophthisis 18, MIM# 615862; MONDO:0014374; Hydrocephalus; ID","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:42:37.054227+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP83 were set to ","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:42:10.397333+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP83 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:41:40.766380+10:00","panel_name":"Hydrocephalus_Ventriculomegaly","panel_id":115,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: 24882706; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Hydrocephalus, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP83","entity_type":"gene"},{"created":"2021-07-02T18:00:56.790740+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP83 as ready","entity_name":"CEP83","entity_type":"gene"}]}