{"count":220483,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1280","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1278","results":[{"created":"2021-07-04T14:23:22.050740+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.223","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT52 were set to ","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:22:48.816582+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:22:12.479999+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT52 as ready","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:22:12.471187+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift52 has been classified as Green List (High Evidence).","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:22:09.440052+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT52 were changed from  to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:21:40.228908+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT52 were set to ","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:21:04.193271+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:20:28.446711+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:19:44.862994+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT52 as ready","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:19:44.835717+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift52 has been classified as Green List (High Evidence).","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:19:42.437270+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.368","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT52 were changed from  to Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:19:13.947063+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.367","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT52 were set to ","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:18:46.979759+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.366","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT52 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:18:22.236967+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT52: Rating: GREEN; Mode of pathogenicity: None; Publications: 26880018, 27466190, 30242358, 31042281; Phenotypes: Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT52","entity_type":"gene"},{"created":"2021-07-04T14:15:29.712138+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT43 as ready","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:15:29.702774+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift43 has been classified as Green List (High Evidence).","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:15:26.866915+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT43 were changed from  to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Cranioectodermal dysplasia 3, MIM# 614099","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:15:03.959296+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT43 were set to ","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:14:39.806142+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:14:05.225728+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 21378380, 29896747; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:13:39.369409+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT43: Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099, Retinitis pigmentosa 81, MIM# 617871","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:13:14.179864+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:13:09.082128+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:12:22.398496+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT43: Added comment: Two families reported with short-rib thoracic dysplasia and two with cranioectodermal dysplasia.; Changed publications: 28400947, 21378380, 29896747; Changed phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Cranioectodermal dysplasia 3, MIM# 614099","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:10:52.339869+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8184","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT43 were set to 28400947; 28973684; 21378380","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:10:33.219562+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8183","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:10:20.145872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8183","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:09:59.826735+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: One family reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.; to: Two families reported with cranioectodermal dysplasia, one with RP, and two with skeletal ciliopathy.","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:09:49.015769+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IFT43: Changed publications: 28400947, 28973684, 21378380, 29896747","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:09:06.864576+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8183","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT43 as ready","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:09:06.854506+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8183","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift43 has been classified as Green List (High Evidence).","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:08:59.236427+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT43 were changed from  to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:08:41.731498+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT43 were set to ","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:08:24.024306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8181","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:07:55.542115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8180","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:06:54.139822+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT43 as ready","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:06:54.128204+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift43 has been classified as Green List (High Evidence).","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:06:45.066064+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.365","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT43 were changed from  to Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866; Retinitis pigmentosa 81 , MIM#617871; Cranioectodermal dysplasia 3, MIM# 614099","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:06:17.446072+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.364","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT43 were set to ","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:05:53.818992+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.363","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT43 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-04T14:05:24.279943+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT43: Rating: GREEN; Mode of pathogenicity: None; Publications: 28400947, 28973684, 21378380; Phenotypes: Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866, Retinitis pigmentosa 81 , MIM#617871, Cranioectodermal dysplasia 3, MIM# 614099; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT43","entity_type":"gene"},{"created":"2021-07-03T18:44:30.131715+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:44:30.119417+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:44:25.965008+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from Retinitis pigmentosa 80 to Retinitis pigmentosa 80, MIM# 617781","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:43:32.101879+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:43:12.301700+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216056, 26968735; Phenotypes: Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:42:11.080117+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:42:11.067278+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:42:07.981119+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.222","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from  to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:41:32.621324+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.221","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:40:53.587532+10:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.220","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:39:39.675493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:39:39.666053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:38:19.671707+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from  to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:38:03.343584+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8179","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:37:43.406024+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8178","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:37:25.567462+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8177","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:36:42.196298+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:36:42.183748+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:36:37.625706+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from  to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:36:06.425293+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:35:38.827254+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:35:13.560671+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT140 as ready","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:35:13.550840+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift140 has been classified as Green List (High Evidence).","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:35:11.116684+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.362","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT140 were changed from  to Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Retinitis pigmentosa 80, MIM# 617781","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:34:46.697081+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.361","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT140 were set to ","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:34:22.774847+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.360","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT140 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:33:44.953181+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397, 26216056, 26968735; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920, Retinitis pigmentosa 80, MIM# 617781; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T18:32:57.157638+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: 22503633, 23418020, 28288023, 28724397; Phenotypes: Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT140","entity_type":"gene"},{"created":"2021-07-03T17:33:29.715052+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM3B as ready","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-03T17:33:29.703063+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm3b has been classified as Green List (High Evidence).","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-03T17:33:26.494720+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM3B as Green List (high evidence)","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-03T17:33:26.485409+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm3b has been classified as Green List (High Evidence).","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-03T17:32:57.753154+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.78","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM3B was added\ngene: KDM3B was added to Deafness_IsolatedAndComplex. Sources: Expert Review\nMode of inheritance for gene: KDM3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM3B were set to 30929739\nPhenotypes for gene: KDM3B were set to Intellectual disability; short stature; deafness\nReview for gene: KDM3B was set to GREEN\nAdded comment: 14 unrelated individuals and 3 affected parents with varying degrees of ID, DD, short stature, dysmorphism, and de novo or inherited pathogenic variants in KDM3B (inherited variants segregated with phenotype). 4 individuals had deafness. \nSources: Expert Review","entity_name":"KDM3B","entity_type":"gene"},{"created":"2021-07-03T17:21:44.857687+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SNRPE as Green List (high evidence)","entity_name":"SNRPE","entity_type":"gene"},{"created":"2021-07-03T17:21:44.845279+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snrpe has been classified as Green List (High Evidence).","entity_name":"SNRPE","entity_type":"gene"},{"created":"2021-07-03T17:21:34.715194+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SNRPE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SNRPE","entity_type":"gene"},{"created":"2021-07-03T17:20:08.668683+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":"Marked gene: ARHGEF9 as ready","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:20:08.659253+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":"Gene: arhgef9 has been classified as Green List (High Evidence).","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:17:46.191512+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":"Phenotypes for gene: ARHGEF9 were changed from  to Developmental and epileptic encephalopathy 8, MIM# 300607","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:17:13.620124+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3920","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGEF9 were set to ","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:16:43.537861+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3919","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:15:58.405173+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3918","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718, 33600053, 32939676; Phenotypes: Developmental and epileptic encephalopathy 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:13:39.668383+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:12:53.676223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8177","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2021-07-03T17:08:25.060254+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396","entity_name":"SNORA31","entity_type":"gene"},{"created":"2021-07-03T17:08:05.255802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8175","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396","entity_name":"SNORA31","entity_type":"gene"},{"created":"2021-07-03T17:07:49.003843+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNORA31 were changed from Susceptibility to HSV1 encephalitis to {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM#\t619396","entity_name":"SNORA31","entity_type":"gene"},{"created":"2021-07-03T17:07:08.674523+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SNORA31: Changed phenotypes: {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, MIM# 619396","entity_name":"SNORA31","entity_type":"gene"},{"created":"2021-07-03T17:05:32.933196+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT172 as ready","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:05:32.917135+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift172 has been classified as Green List (High Evidence).","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:05:29.849293+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT172 were changed from  to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:05:06.655793+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT172 were set to ","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:04:37.534069+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:04:11.801716+10:00","panel_name":"Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy","panel_id":179,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT172: Rating: GREEN; Mode of pathogenicity: None; Publications: 24140113; Phenotypes: Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:02:26.802951+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT172 as ready","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:02:26.790916+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift172 has been classified as Green List (High Evidence).","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:02:23.562683+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.359","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT172 were changed from  to Bardet-Biedl syndrome; Retinitis pigmentosa 71, MIM# 616394; Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:01:53.012529+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.358","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT172 were set to ","entity_name":"IFT172","entity_type":"gene"},{"created":"2021-07-03T17:01:22.951379+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.357","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT172 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT172","entity_type":"gene"}]}