{"count":220489,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1277","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1275","results":[{"created":"2021-07-06T16:09:47.992251+10:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.19","user_name":"Natasha Brown","item_type":"entity","text":"reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28343148, 25283271, 28589114; Phenotypes: moyamoya, cerebral arteriopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CBL","entity_type":"gene"},{"created":"2021-07-06T14:59:25.774547+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTEX1D2 as ready","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:59:25.761558+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:59:23.344595+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTEX1D2 were changed from  to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:59:00.680791+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTEX1D2 were set to ","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:58:30.900176+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:57:54.428845+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTEX1D2 as ready","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:57:54.418070+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:57:48.562631+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTEX1D2 were changed from  to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:57:25.592871+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTEX1D2 were set to ","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:56:47.278832+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:56:12.018004+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:55:39.093403+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8223","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTEX1D2 as ready","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:55:39.084648+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8223","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:55:27.843639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8223","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTEX1D2 were changed from  to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:55:09.773512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8222","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTEX1D2 were set to ","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:54:50.484596+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8221","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:54:32.608679+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:53:51.549698+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTEX1D2 as ready","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:53:51.538094+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctex1d2 has been classified as Green List (High Evidence).","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:52:17.105708+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.426","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTEX1D2 were changed from  to Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:50:50.458481+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.425","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTEX1D2 were set to ","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:50:30.231353+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.424","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTEX1D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T14:50:00.469489+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCTEX1D2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26044572, 25830415; Phenotypes: Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTEX1D2","entity_type":"gene"},{"created":"2021-07-06T09:54:47.661326+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"entity","text":"Tag new gene name tag was added to gene: LOR.","entity_name":"LOR","entity_type":"gene"},{"created":"2021-07-06T09:49:39.352233+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.99","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-07-06T09:31:39.509909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8220","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN3 as ready","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:31:39.498847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8220","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn3 has been classified as Green List (High Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:31:27.650459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8220","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN3 were changed from  to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:31:07.661911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8219","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN3 were set to ","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:30:49.055292+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8218","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:30:32.044373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8217","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Rare cause of JBS, I can only find two families reported plus one with OFD. Ataxia specifically described in one of the JBS individuals.; to: Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:30:09.565937+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8217","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:29:28.131087+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCTN3 as ready","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:29:28.121270+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tctn3 has been classified as Green List (High Evidence).","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:29:25.622833+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.423","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCTN3 were changed from  to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; Mohr-Majewski syndrome; Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:28:57.658373+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.422","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TCTN3 were set to ","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:28:31.122601+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.421","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCTN3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:28:06.264622+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TCTN3: Changed publications: 22883145, 32139166, 25118024, 34096792; Changed phenotypes: Joubert syndrome 18, MIM# 614815, MONDO:0013896, Orofaciodigital syndrome IV, MIM# 258860, Mohr-Majewski syndrome, Meckel-Gruber syndrome","entity_name":"TCTN3","entity_type":"gene"},{"created":"2021-07-06T09:25:12.545460+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:25:12.531589+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Green List (High Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:25:09.733021+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:25:01.024977+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.172","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:24:47.514205+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:23:52.668820+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3924","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:23:52.658777+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3924","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Green List (High Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:23:47.907508+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3924","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:23:21.583308+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3923","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:20:51.967654+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3922","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:20:18.097850+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3921","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:19:18.618737+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:19:18.607942+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Green List (High Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:19:15.931268+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:18:51.111678+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:18:26.967144+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:17:56.049130+10:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:17:16.170462+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:17:16.159866+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Red List (Low Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:17:13.750931+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:16:47.146253+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:16:17.758628+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SDCCAG8 as Red List (low evidence)","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:16:17.748427+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Red List (Low Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:15:52.346526+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.224","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SDCCAG8: Changed rating: RED","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:15:29.910285+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:15:29.895367+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Green List (High Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:15:19.594659+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:14:36.204244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:14:18.927966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8215","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:14:00.866505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8214","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886; Phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:13:00.570940+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from Bardet-Biedl syndrome 16, MIM# 615993 to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:12:33.645010+10:00","panel_name":"Bardet Biedl syndrome","panel_id":53,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:12:01.424853+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SDCCAG8 as ready","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:12:01.414377+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sdccag8 has been classified as Green List (High Evidence).","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:11:58.514400+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.420","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SDCCAG8 were changed from  to Bardet-Biedl syndrome 16, MIM# 615993; MONDO:0014444; Senior-Loken syndrome 7, MIM# 613615; MONDO:0013326; Nephronophthisis","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:11:21.214974+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SDCCAG8 were set to ","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:10:47.002556+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.418","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SDCCAG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:10:00.370701+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association. Polydactyly is typically ABSENT.; to: Well established gene-disease association with BBS. Polydactyly is typically ABSENT. Also reported with LCA and apparently isolated nephronophtisis.","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:09:37.285558+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065, 26968886","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:08:48.335825+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SDCCAG8: Changed publications: 20835237, 22626039, 22626039, 32432520, 31534065; Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444, Senior-Loken syndrome 7, MIM# 613615, MONDO:0013326, Nephronophthisis","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:07:05.281280+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SDCCAG8: Changed phenotypes: Bardet-Biedl syndrome 16, MIM# 615993, MONDO:0014444","entity_name":"SDCCAG8","entity_type":"gene"},{"created":"2021-07-06T09:05:25.588796+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8214","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SBDS as ready","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:05:25.579491+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8214","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sbds has been classified as Green List (High Evidence).","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:05:12.869965+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8214","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SBDS were changed from  to Shwachman-Diamond syndrome, MIM# 260400","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:04:55.363505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8213","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:04:37.221805+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8212","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:02:37.890310+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SBDS as ready","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:02:37.881231+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sbds has been classified as Amber List (Moderate Evidence).","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:02:35.616168+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SBDS were changed from  to Shwachman-Diamond syndrome, MIM# 260400","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:02:13.007102+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SBDS were set to ","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:01:50.529911+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:01:21.118723+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SBDS as Amber List (moderate evidence)","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:01:21.109732+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sbds has been classified as Amber List (Moderate Evidence).","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T09:00:51.723032+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SBDS: Rating: AMBER; Mode of pathogenicity: None; Publications: 22554078; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-06T08:56:39.742216+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8212","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:56:23.278811+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8212","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RPGRIP1L as ready","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:56:23.268489+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8212","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rpgrip1l has been classified as Green List (High Evidence).","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:56:14.993276+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RPGRIP1L were changed from  to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561; COACH syndrome 3, MIM# 619113; Nephronophthisis","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:54:48.747044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8211","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RPGRIP1L were set to ","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:54:27.893124+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RPGRIP1L","entity_type":"gene"},{"created":"2021-07-06T08:54:01.308710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8209","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RPGRIP1L: Added comment: Bi-allelic variants in this gene are associated with a range of ciliopathies, including JBTS and Meckel syndrome. Mouse model.; Changed publications: 17558409, 17558407, 17960139, 26071364, 19574260, 29991045; Changed phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561, COACH syndrome 3, MIM# 619113, Nephronophthisis","entity_name":"RPGRIP1L","entity_type":"gene"}]}