{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1268","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1266","results":[{"created":"2021-07-18T16:57:27.269835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8353","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C8orf37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C8orf37","entity_type":"gene"},{"created":"2021-07-18T16:56:09.591294+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8352","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2CD3 as ready","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:56:09.581525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8352","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2cd3 has been classified as Green List (High Evidence).","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:56:02.134678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8352","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2CD3 were changed from  to Orofaciodigital syndrome XIV, MIM# 615948; MONDO:0014413","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:55:45.558355+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8351","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2CD3 were set to ","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:55:26.296522+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8350","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C2CD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:47:54.127590+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8348","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRM3 as ready","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:47:54.117181+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrm3 has been classified as Green List (High Evidence).","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:47:45.814126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRM3 were changed from  to Prune belly syndrome, MIM# 100100","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:47:27.475725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8347","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRM3 were set to ","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:47:08.578171+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8346","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHRM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:46:49.857267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8345","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRM3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:46:42.568855+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHRM3 as ready","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:46:42.552673+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chrm3 has been classified as Green List (High Evidence).","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:46:36.941231+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHRM3 were changed from Posterior urethral valves & prune belly syndrome to Prune belly syndrome, MIM# 100100; Posterior urethral valves & prune belly syndrome","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:46:23.462382+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHRM3 were set to ","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:45:20.567984+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CHRM3: Changed rating: GREEN","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:45:15.206385+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHRM3: Rating: ; Mode of pathogenicity: None; Publications: 22077972, 31441039; Phenotypes: Prune belly syndrome, MIM# 100100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHRM3","entity_type":"gene"},{"created":"2021-07-18T16:42:51.582355+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTA2 as ready","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:42:51.566732+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acta2 has been classified as Green List (High Evidence).","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:42:46.868404+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTA2 were changed from Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis to Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Vascular aneurysms & dissections, patent ductus arteriosus, mydriasis","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:42:37.698291+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACTA2 were set to ","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:42:28.561887+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:42:19.015327+10:00","panel_name":"Gastrointestinal neuromuscular disease","panel_id":3087,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20734336, 29300374; Phenotypes: Multisystemic smooth muscle dysfunction syndrome, MIM# 613834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTA2","entity_type":"gene"},{"created":"2021-07-18T16:36:10.497526+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-07-18T16:33:36.738539+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT74 as ready","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-07-18T16:33:36.731351+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: No renal involvement in the individuals reported with the Joubert phenotype.","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-07-18T16:33:36.707996+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift74 has been classified as Amber List (Moderate Evidence).","entity_name":"IFT74","entity_type":"gene"},{"created":"2021-07-18T16:31:03.540306+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C2CD3: Changed rating: AMBER","entity_name":"C2CD3","entity_type":"gene"},{"created":"2021-07-18T16:29:48.541251+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature.; to: Primarily a skeletal ciliopathy, short ribs and narrow chest are a feature. Renal abnormalities not prominent.","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T16:29:37.105109+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: EVC: Changed rating: RED","entity_name":"EVC","entity_type":"gene"},{"created":"2021-07-18T16:26:09.076277+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP42 as ready","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:26:09.065557+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap42 has been classified as Red List (Low Evidence).","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:26:01.506480+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8345","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP42 was added\ngene: ARHGAP42 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP42 were set to 34232960\nPhenotypes for gene: ARHGAP42 were set to Interstitial lung disease; systemic hypertension; immunological abnormalities\nReview for gene: ARHGAP42 was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings. \nSources: Literature","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:24:46.500891+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGAP42 as ready","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:24:46.490164+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgap42 has been classified as Red List (Low Evidence).","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:24:44.120561+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGAP42 were changed from  to Interstitial lung disease; systemic hypertension; immunological abnormalities","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T16:23:46.790812+10:00","panel_name":"Pulmonary Fibrosis_Interstitial Lung Disease","panel_id":162,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP42 was added\ngene: ARHGAP42 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature\nMode of inheritance for gene: ARHGAP42 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARHGAP42 were set to 34232960\nReview for gene: ARHGAP42 was set to RED\nAdded comment: Single individual reported with homozygous LoF variant, chILD disorder, systemic hypertension, and immunological findings. \nSources: Literature","entity_name":"ARHGAP42","entity_type":"gene"},{"created":"2021-07-18T15:01:13.348391+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.322","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCLT1 were changed from Orofaciodigital syndrome type IX; Senior-Loken syndrome to Senior-Loken syndrome; Bardet-Biedl syndrome","entity_name":"SCLT1","entity_type":"gene"},{"created":"2021-07-18T15:00:45.256610+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCLT1 as Green List (high evidence)","entity_name":"SCLT1","entity_type":"gene"},{"created":"2021-07-18T15:00:45.246489+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.321","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sclt1 has been classified as Green List (High Evidence).","entity_name":"SCLT1","entity_type":"gene"},{"created":"2021-07-18T15:00:17.195853+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. \nSources: Expert list; to: Reports of individual patients with overlapping features suggestive of ciliopathy, mouse model recapitulates phenotype. Two individuals with BBS and one with Senior-Loken, with renal involvement.\r\nSources: Expert list","entity_name":"SCLT1","entity_type":"gene"},{"created":"2021-07-18T14:59:58.872258+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCLT1: Changed phenotypes: Orofaciodigital syndrome type IX, Senior-Loken syndrome, Bardet-Biedl syndrome","entity_name":"SCLT1","entity_type":"gene"},{"created":"2021-07-18T14:58:50.289701+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data.; to: At least 5 families reported with a skeletal ciliopathy, supportive mouse model and other functional data; however, no renal involvement.","entity_name":"WDR34","entity_type":"gene"},{"created":"2021-07-18T14:58:39.367326+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR34: Changed rating: RED","entity_name":"WDR34","entity_type":"gene"},{"created":"2021-07-18T14:58:04.419075+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR60 as ready","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:58:04.407375+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr60 has been classified as Green List (High Evidence).","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:58:01.495091+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.320","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR60 were changed from  to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:54:33.204856+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.319","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR60 were set to ","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:54:06.472854+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.318","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:53:34.377863+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families reported, three with skeletal ciliopathy and one with RP and polydactyly only.; to: Four unrelated families reported, including renal involvement, although features are predominantly skeletal.","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:52:45.196936+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR60: Changed phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503","entity_name":"WDR60","entity_type":"gene"},{"created":"2021-07-18T14:52:22.135591+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR35 as ready","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:52:22.123264+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr35 has been classified as Green List (High Evidence).","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:52:19.747193+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.317","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR35 were changed from  to Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091; MONDO:0013569; Cranioectodermal dysplasia 2, MIM# 613610","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:51:49.366749+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.316","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR35 were set to ","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:51:16.441568+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.315","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR35 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:50:51.463626+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Bi-allelic variants in this gene also cause cranioectodermal dysplasia.; to: Well established gene-disease associations, renal involvement reported in both.","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:50:34.937433+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR35: Changed phenotypes: Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091, MONDO:0013569, Cranioectodermal dysplasia 2, MIM# 613610","entity_name":"WDR35","entity_type":"gene"},{"created":"2021-07-18T14:49:36.277162+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.314","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR19 were changed from Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378 to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:48:30.089499+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WDR19 as ready","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:48:30.080350+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wdr19 has been classified as Green List (High Evidence).","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:48:27.781968+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.313","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WDR19 were changed from  to Nephronophthisis 13, MIM# 614377; Senior-Loken syndrome 8, MIM# 616307; Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Cranioectodermal dysplasia 4, MIM# 614378","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:48:00.947182+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.312","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WDR19 were set to ","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:47:35.828877+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.311","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:47:09.282879+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Variants in this gene are associated with a range of ciliopathies. Two families reported with a predominantly skeletal phenotype.; to: Variants in this gene are associated with a range of ciliopathies, including nephronophthisis and Senior-Loken syndrome.","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:46:51.144860+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR19: Changed rating: GREEN","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:46:44.218228+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: WDR19: Changed publications: 22019273, 23559409, 23683095; Changed phenotypes: Nephronophthisis 13, MIM# 614377, Senior-Loken syndrome 8, MIM# 616307","entity_name":"WDR19","entity_type":"gene"},{"created":"2021-07-18T14:44:40.008655+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC8 as ready","entity_name":"TTC8","entity_type":"gene"},{"created":"2021-07-18T14:44:39.996185+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc8 has been classified as Green List (High Evidence).","entity_name":"TTC8","entity_type":"gene"},{"created":"2021-07-18T14:44:36.829975+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.310","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC8 were changed from  to Bardet-Biedl syndrome 8, MIM# 615985","entity_name":"TTC8","entity_type":"gene"},{"created":"2021-07-18T14:44:08.316742+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.309","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC8 were set to ","entity_name":"TTC8","entity_type":"gene"},{"created":"2021-07-18T14:43:38.255799+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.308","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC8","entity_type":"gene"},{"created":"2021-07-18T13:18:31.554378+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TTC21B as ready","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:18:31.543208+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ttc21b has been classified as Green List (High Evidence).","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:18:22.026989+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TTC21B were changed from  to Nephronophthisis 12, MIM# 613820; Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:17:57.024737+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.306","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TTC21B were set to ","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:17:30.443460+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.305","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC21B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:17:04.565701+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTC21B: Rating: GREEN; Mode of pathogenicity: None; Publications: 21258341; Phenotypes: Nephronophthisis 12, MIM# 613820, Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC21B","entity_type":"gene"},{"created":"2021-07-18T13:15:09.375827+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM67 as ready","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:15:09.352866+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem67 has been classified as Green List (High Evidence).","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:15:06.366862+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM67 were changed from  to Nephronophthisis 11, MIM# 613550; Joubert syndrome 6, MIM# 610688; Meckel syndrome 3, MIM# 607361","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:14:47.660728+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM67 were set to ","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:14:14.873017+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM67 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:13:44.128067+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Multiple families with each.; to: Bi-allelic variants in this gene are associated with a range of ciliopathies, including Nerphronophtisis, JBTS and Meckel syndrome. Multiple families with each.","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:13:32.070923+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TMEM67: Changed phenotypes: Nephronophthisis 11, MIM# 613550, Joubert syndrome 6, MIM# 610688, Meckel syndrome 3, MIM# 607361","entity_name":"TMEM67","entity_type":"gene"},{"created":"2021-07-18T13:12:07.920711+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM231 as ready","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-18T13:12:07.910562+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem231 has been classified as Green List (High Evidence).","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-18T13:12:05.344210+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM231 were changed from  to Joubert syndrome 20, MIM# 614970; MONDO:0013994; Meckel syndrome 11, MIM# 615397; MONDO:0014164","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-18T13:11:37.004209+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.300","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM231 were set to ","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-18T13:11:12.257567+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.299","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-18T13:10:46.210833+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 3 unrelated families reported with each phenotype, functional data.; to: More than 3 unrelated families reported with each phenotype, functional data. Renal involvement common in Meckel.","entity_name":"TMEM231","entity_type":"gene"},{"created":"2021-07-17T18:31:42.517799+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:31:42.507126+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Green List (High Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:31:40.375640+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from  to Joubert syndrome 2, MIM# 608091; Meckel syndrome 2, MIM# 603194","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:31:12.582206+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM216 were set to ","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:28:06.729933+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.296","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:27:40.396367+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: p.Arg73Leu is a founder Jewish variant.\r\n\r\nMultiple families reported with JBTS and with Meckel syndrome.; to: p.Arg73Leu is a founder Jewish variant.\r\n\r\nMultiple families reported with JBTS and with Meckel syndrome. Renal involvement common in Meckel.","entity_name":"TMEM216","entity_type":"gene"},{"created":"2021-07-17T18:26:50.973113+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM138 as ready","entity_name":"TMEM138","entity_type":"gene"},{"created":"2021-07-17T18:26:50.963185+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.295","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem138 has been classified as Green List (High Evidence).","entity_name":"TMEM138","entity_type":"gene"}]}