{"count":220966,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=710","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=708","results":[{"created":"2022-10-21T10:59:14.092827+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd79b has been classified as Green List (High Evidence).","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:59:08.762691+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD79B were changed from  to Agammaglobulinaemia 6, MIM# 612692","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:58:36.128084+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD79B were set to ","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:58:02.059819+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CD79B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:57:27.140172+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD79B: Changed publications: 17709424, 17675462, 33733381, 24722855","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:57:00.600308+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 6, MIM# 612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:56:20.059347+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79B.","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:56:02.518876+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79B.","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:54:33.036568+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD79B as ready","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:54:33.004086+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd79b has been classified as Green List (High Evidence).","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:54:24.911017+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79B.","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:54:00.940225+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.604","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD79B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinemia 6 MIM#612692; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD79B","entity_type":"gene"},{"created":"2022-10-21T10:10:17.410260+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RRAS2 as ready","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-10-21T10:10:17.393993+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-10-21T10:10:12.063133+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RRAS2 as Green List (high evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-10-21T10:10:12.051712+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rras2 has been classified as Green List (High Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-10-21T10:09:44.410225+11:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.292","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RRAS2 was added\ngene: RRAS2 was added to Hydrops fetalis. Sources: Expert Review\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RRAS2 were set to 33686258; 31130282\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12 OMIM #618624\nReview for gene: RRAS2 was set to GREEN\nAdded comment: Established Rasopathy gene; identified in hydrops cohort PMID 33686258. \nSources: Expert Review","entity_name":"RRAS2","entity_type":"gene"},{"created":"2022-10-21T09:47:48.689792+11:00","panel_name":"Hypophosphataemic Rickets","panel_id":122,"panel_version":"0.36","user_name":"Krithika Murali","item_type":"entity","text":"reviewed gene: CLCN5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatemic rickets, MIM# 300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"CLCN5","entity_type":"gene"},{"created":"2022-10-21T08:16:06.145118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.\r\n\r\nCaution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.","entity_name":"WNK4","entity_type":"gene"},{"created":"2022-10-21T08:15:41.218084+11:00","panel_name":"Renal Hypertension and Disorders of Aldosterone Metabolism","panel_id":190,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported.\r\n\r\nCaution: assessed as MODERATE by ClinGen. Although at least 9 individuals have been reported, all the reported variants are missense without other supportive functional or segregation data.","entity_name":"WNK4","entity_type":"gene"},{"created":"2022-10-20T17:07:49.554315+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.146","user_name":"Krithika Murali","item_type":"entity","text":"gene: DHCR24 was added\ngene: DHCR24 was added to Skeletal Dysplasia_Fetal. Sources: Literature,Expert list\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHCR24 were set to PMID: 21671375\nPhenotypes for gene: DHCR24 were set to Desmosterolosis - MIM#602398\nReview for gene: DHCR24 was set to GREEN\nAdded comment: Although contractures are the more prominent antenatal feature, rhizomesomelia diagnosed at birth has been described. \nSources: Literature, Expert list","entity_name":"DHCR24","entity_type":"gene"},{"created":"2022-10-20T13:52:10.773954+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79A.","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:51:48.533832+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79A.","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:51:26.981067+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD79A as ready","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:51:26.972622+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd79a has been classified as Green List (High Evidence).","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:51:16.657150+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 unrelated families.\r\n\r\nPresents in infancy.\r\n\r\nTreatment: immunoglobulin replacement.; to: At least 5 unrelated families.\r\n\r\nPresents in infancy with severe recurrent infections.\r\n\r\nTreatment: immunoglobulin replacement.","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:50:59.305903+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD79A.","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:50:46.457802+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD79A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 3, MIM#613501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD79A","entity_type":"gene"},{"created":"2022-10-20T13:47:54.146089+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD40LG.","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:47:28.859789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD40LG.","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:47:01.582236+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD40LG as ready","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:47:01.545151+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd40lg has been classified as Green List (High Evidence).","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:46:57.829918+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.603","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CD40LG were changed from Immunodeficiency, X-linked, with hyper-IgM to Immunodeficiency, X-linked, with hyper-IgM MIM# 308230","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:46:44.144293+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD40LG.","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:46:34.061518+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CD40LG","entity_type":"gene"},{"created":"2022-10-20T13:42:32.051113+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3E.","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-10-20T13:42:09.935913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3E.","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-10-20T13:41:50.443153+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD3E as ready","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-10-20T13:41:50.434751+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd3e has been classified as Green List (High Evidence).","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-10-20T13:41:40.184968+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD3E: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 18 MIM# 615615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD3E","entity_type":"gene"},{"created":"2022-10-20T13:39:57.883775+11:00","panel_name":"Severe Combined Immunodeficiency (absent T present B cells)","panel_id":235,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3D.","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:39:33.077777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3D.","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:39:20.611428+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD3D as ready","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:39:20.600896+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd3d has been classified as Green List (High Evidence).","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:38:51.792322+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3D.","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:38:41.835000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD3D: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 19 MIM# 615617; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD3D","entity_type":"gene"},{"created":"2022-10-20T13:35:03.201415+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSK as ready","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-10-20T13:35:03.182284+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Green List (High Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-10-20T13:34:58.355955+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CTSK as Green List (high evidence)","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-10-20T13:34:58.345875+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsk has been classified as Green List (High Evidence).","entity_name":"CTSK","entity_type":"gene"},{"created":"2022-10-20T13:34:15.207373+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CUL7 as ready","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-20T13:34:15.197399+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul7 has been classified as Green List (High Evidence).","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-20T13:34:09.501021+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CUL7 as Green List (high evidence)","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-20T13:34:09.492239+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cul7 has been classified as Green List (High Evidence).","entity_name":"CUL7","entity_type":"gene"},{"created":"2022-10-20T13:33:23.594046+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP26B1 as ready","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2022-10-20T13:33:23.585008+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp26b1 has been classified as Green List (High Evidence).","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2022-10-20T13:33:10.225692+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP26B1 as Green List (high evidence)","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2022-10-20T13:33:10.216262+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp26b1 has been classified as Green List (High Evidence).","entity_name":"CYP26B1","entity_type":"gene"},{"created":"2022-10-20T13:32:12.889284+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBXW11 as ready","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:32:12.879598+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxw11 has been classified as Red List (Low Evidence).","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:32:10.523625+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FBXW11 were changed from Autoinflammation to Autoinflammatory disorder MONDO:0019751, FBXW11-related","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:31:37.520114+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FBXW11 as Red List (low evidence)","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:31:37.511575+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbxw11 has been classified as Red List (Low Evidence).","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:30:53.882126+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FBXW11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoinflammatory disorder MONDO:0019751, FBXW11-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"FBXW11","entity_type":"gene"},{"created":"2022-10-20T13:28:31.022272+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VIPAS39 as ready","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:28:31.011983+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vipas39 has been classified as Red List (Low Evidence).","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:28:27.323934+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.602","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VIPAS39 were changed from Arthrogryposis, renal dysfunction and cholestasis to Arthrogryposis, renal dysfunction, and cholestasis MIM#613404","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:28:14.225488+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.601","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VIPAS39 were set to ","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:28:02.038275+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VIPAS39 as Red List (low evidence)","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:28:02.019143+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.600","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vipas39 has been classified as Red List (Low Evidence).","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:27:39.136090+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VIPAS39: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, renal dysfunction, and cholestasis MIM#613404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VIPAS39","entity_type":"gene"},{"created":"2022-10-20T13:25:50.474530+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VLDLR as ready","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-10-20T13:25:50.456028+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vldlr has been classified as Red List (Low Evidence).","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-10-20T13:25:46.860000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.599","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VLDLR were changed from Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-10-20T13:25:32.104087+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.598","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VLDLR as Red List (low evidence)","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-10-20T13:25:32.084923+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.598","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vldlr has been classified as Red List (Low Evidence).","entity_name":"VLDLR","entity_type":"gene"},{"created":"2022-10-20T13:24:55.067191+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13A as ready","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T13:24:55.048197+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Red List (Low Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T13:24:49.612320+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.597","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS13A were changed from Choreoacanthocytosis to Choreoacanthocytosis MIM#200150","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T13:24:37.129817+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13A as Red List (low evidence)","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T13:24:37.121426+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.596","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13a has been classified as Red List (Low Evidence).","entity_name":"VPS13A","entity_type":"gene"},{"created":"2022-10-20T13:23:36.705010+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS13B as ready","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T13:23:36.693065+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Red List (Low Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T13:23:33.161918+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS13B were changed from Cohen syndrome to Cohen syndrome MIM#216550","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T13:23:17.262091+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.594","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: VPS13B as Red List (low evidence)","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T13:23:17.253833+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.594","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps13b has been classified as Red List (Low Evidence).","entity_name":"VPS13B","entity_type":"gene"},{"created":"2022-10-20T13:22:04.677705+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.593","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARSA were set to ","entity_name":"ARSA","entity_type":"gene"},{"created":"2022-10-20T13:21:32.520159+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review was removed from gene: ARSA.","entity_name":"ARSA","entity_type":"gene"},{"created":"2022-10-20T13:19:34.275092+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCK as ready","entity_name":"GCK","entity_type":"gene"},{"created":"2022-10-20T13:19:34.265357+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gck has been classified as Green List (High Evidence).","entity_name":"GCK","entity_type":"gene"},{"created":"2022-10-20T13:19:07.623120+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.592","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCK","entity_type":"gene"},{"created":"2022-10-20T13:18:45.725227+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853), Diabetes mellitus, permanent neonatal 1, AR (MIM#606176), Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485), MODY, type II, AD (MIM#125851); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCK","entity_type":"gene"},{"created":"2022-10-20T13:14:47.206119+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: G6PC as ready","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:14:47.192158+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: g6pc has been classified as Green List (High Evidence).","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:14:41.548616+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.591","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: G6PC were set to ","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:13:59.883490+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.418","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: G6PC.","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:13:39.324419+11:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: G6PC.","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:13:11.192731+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.590","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: G6PC.","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:12:36.666287+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.590","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: G6PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ia, MIM# 232200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"G6PC","entity_type":"gene"},{"created":"2022-10-20T13:10:13.181614+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.590","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FUCA1 as ready","entity_name":"FUCA1","entity_type":"gene"}]}