{"count":220467,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1283","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1281","results":[{"created":"2021-06-27T15:45:46.745187+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP164: Added comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype.; Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:45:08.236780+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP164 as ready","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:45:08.226316+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:45:03.668889+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP164 were changed from  to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:44:39.165536+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP164 were set to ","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:44:13.959455+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.169","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:43:42.358321+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.168","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:42:50.618325+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":"Marked gene: CEP164 as ready","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:42:50.607927+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":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:42:44.558468+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":"Classified gene: CEP164 as Green List (high evidence)","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:42:44.549561+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":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:42:11.800729+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3913","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CEP164 was added\ngene: CEP164 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP164 were set to 34132027; 34013113; 32055034; 27708425; 22863007\nPhenotypes for gene: CEP164 were set to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome\nReview for gene: CEP164 was set to GREEN\nAdded comment: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \nSources: Expert Review","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:40:17.868791+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP164 as ready","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:40:17.859163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:40:09.624549+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP164 were changed from  to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:39:51.349672+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8141","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP164 were set to ","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:39:32.284544+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8140","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:39:13.307668+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP164 as ready","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:39:13.297987+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:39:05.289138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8139","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: None; Publications: 34132027, 34013113, 32055034, 27708425, 22863007; Phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:38:19.444727+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP164 were changed from Nephronophthisis 15, MIM#\t614845 to Bardet-Biedl syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:38:00.169248+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP164 were set to ","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:37:24.512476+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEP164 as Green List (high evidence)","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:37:24.503282+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep164 has been classified as Green List (High Evidence).","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:36:59.388939+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP164 were changed from  to Bardet-Biedl syndrome; Nephronophthisis 15, MIM# 614845; Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:36:52.999188+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype. \nSources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \r\nSources: Expert list","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:36:28.579053+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:36:27.744524+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP164 were set to ","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:35:56.697067+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP164 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:35:26.357179+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Rated Amber given the overall low number of affected individuals, emerging phenotype. \nSources: Expert list; to: More than 10 unrelated families reported. Although this is labelled as a nephronophthisis gene in OMIM, some of the reported individuals have had features such as retinal involvement, ID and polydactyly to suggest a more BBS-like phenotype. Also note one individual reported with OFD-like phenotype. \r\nSources: Expert list","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:34:50.408294+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP164: Changed rating: GREEN; Changed publications: 34132027, 34013113, 32055034, 27708425, 22863007; Changed phenotypes: Bardet-Biedl syndrome, Nephronophthisis 15, MIM# 614845, Oro-facio-digital syndrome","entity_name":"CEP164","entity_type":"gene"},{"created":"2021-06-27T15:30:53.655590+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":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:30:53.639095+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":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:30:50.652214+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":"Phenotypes for gene: CEP120 were changed from  to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:30:22.254552+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to ","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:30:00.159648+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:51.332288+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:51.321634+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:41.341322+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:41.328177+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:39.225980+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from  to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:28.392087+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:29:14.540499+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to ","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:28:28.567563+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361962, 27208211; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:26:47.793565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP120 as ready","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:26:47.780718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep120 has been classified as Green List (High Evidence).","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:26:23.078587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from  to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:25:51.499922+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8138","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to ","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:25:33.806826+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:25:27.778050+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:25:13.616662+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: 27208211, 33486889, 29847808, 25361962, 27208211; Phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:25:08.017431+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP120 were changed from  to Joubert syndrome 31, MIM# 617761; Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:24:31.189316+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP120 were set to ","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:23:34.245314+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families with JBTS reported. Note variants in this gene also cause SRTD. Functional data. \nSources: Expert list; to: More than 5 unrelated families with JBTS reported, and at least three families with SRTD. Functional data. \r\nSources: Expert list","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:23:11.562799+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP120: Changed publications: 27208211, 33486889, 29847808, 25361962, 27208211; Changed phenotypes: Joubert syndrome 31, MIM# 617761, Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:20:22.037322+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP120","entity_type":"gene"},{"created":"2021-06-27T15:19:24.913337+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3912","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-27T15:18:41.176977+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-27T15:18:07.555373+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-27T15:17:36.690151+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CEP104: Changed phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T20:10:29.861098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T20:10:29.838342+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T20:10:19.944944+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from  to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T20:09:55.722083+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8135","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP104 were set to ","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:57:20.767146+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:56:37.681378+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP104: Rating: GREEN; Mode of pathogenicity: None; Publications: 26477546; Phenotypes: Joubert syndrome 25, MIM# 616781, MONDO:0014770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:56:21.701281+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from Joubert syndrome 25, MIM# 616781 to Joubert syndrome 25, MIM# 616781; MONDO:0014770","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:55:01.645715+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP104 as ready","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:55:01.617827+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep104 has been classified as Green List (High Evidence).","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:54:58.734111+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP104 were changed from  to Joubert syndrome 25, MIM# 616781","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:54:34.118972+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.330","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP104 were set to ","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:54:10.408682+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.329","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP104 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP104","entity_type":"gene"},{"created":"2021-06-26T17:52:17.205556+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C5orf42.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:51:31.266466+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C5orf42 as ready","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:51:31.255671+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Green List (High Evidence).","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:51:26.682510+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3911","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C5orf42 were changed from  to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:51:01.141354+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3910","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C5orf42 were set to ","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:50:34.161144+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3909","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:49:40.936350+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3908","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:48:43.669157+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C5orf42 as ready","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:48:43.658236+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Red List (Low Evidence).","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:48:41.253254+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.349","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C5orf42 were changed from  to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:48:16.395384+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:47:45.599564+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C5orf42 as Red List (low evidence)","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:47:45.590057+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Red List (Low Evidence).","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:47:21.352362+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:46:50.314431+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C5orf42 as ready","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:46:50.304198+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Green List (High Evidence).","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:46:41.963476+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.210","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C5orf42 were changed from  to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM# 277170","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:46:12.984087+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C5orf42.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:46:05.949690+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C5orf42 were set to ","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:45:34.505337+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: None; Publications: 22425360, 24178751; Phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:44:13.546850+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8133","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C5orf42.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:43:54.340536+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: C5orf42.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:43:37.441688+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C5orf42 were changed from Joubert syndrome 17, MIM# 614615 to Joubert syndrome 17, MIM# 614615; MONDO:0013824; Orofaciodigital syndrome VI, MIM#\t277170","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:43:14.881917+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C5orf42 were set to 22425360","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:42:49.348594+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease associations both with prominent neurological features. More than 10 unrelated families reported with each association.\r\n\r\nNew gene name is CPLANE1.","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:42:28.736636+10:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C5orf42: Changed publications: 22425360, 24178751; Changed phenotypes: Joubert syndrome 17, MIM# 614615, MONDO:0013824, Orofaciodigital syndrome VI, MIM# 277170","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:41:51.580705+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C5orf42 as ready","entity_name":"C5orf42","entity_type":"gene"},{"created":"2021-06-26T17:41:51.571053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c5orf42 has been classified as Green List (High Evidence).","entity_name":"C5orf42","entity_type":"gene"}]}