{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1347","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1345","results":[{"created":"2021-04-21T11:48:54.613802+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCB were set to ","entity_name":"FANCB","entity_type":"gene"},{"created":"2021-04-21T11:48:25.896280+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FANCB","entity_type":"gene"},{"created":"2021-04-21T11:47:47.576717+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: 15502827; Phenotypes: Fanconi anemia, complementation group B, MIM# 300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"FANCB","entity_type":"gene"},{"created":"2021-04-21T10:18:57.028618+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279","entity_name":"UQCRC1","entity_type":"gene"},{"created":"2021-04-21T10:18:31.952518+10:00","panel_name":"Incidentalome","panel_id":126,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279","entity_name":"UQCRC1","entity_type":"gene"},{"created":"2021-04-21T10:18:18.586840+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UQCRC1 were changed from Parkinson's disease to Parkinsonism with polyneuropathy, MIM# 619279","entity_name":"UQCRC1","entity_type":"gene"},{"created":"2021-04-21T10:17:41.585135+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: UQCRC1: Changed phenotypes: Parkinsonism with polyneuropathy, MIM# 619279","entity_name":"UQCRC1","entity_type":"gene"},{"created":"2021-04-21T10:15:17.486952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM# 619268; Intellectual disability","entity_name":"SMG8","entity_type":"gene"},{"created":"2021-04-21T10:14:52.984737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SMG8: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Alzahrani-Kuwahara syndrome, MIM# 619268; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SMG8","entity_type":"gene"},{"created":"2021-04-21T10:14:21.950281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3694","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SMG8 were changed from Intellectual disability to Alzahrani-Kuwahara syndrome, MIM#\t619268; Intellectual disability","entity_name":"SMG8","entity_type":"gene"},{"created":"2021-04-20T20:41:23.199475+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:41:23.185760+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:41:20.512189+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCA were changed from  to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:40:50.939434+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCA were set to ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:40:28.158235+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:40:03.069839+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:38:37.507515+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:38:37.496525+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:32:43.865265+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCA were changed from  to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:32:14.442840+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCA were set to ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:31:46.475841+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:31:15.806636+10:00","panel_name":"Cancer Predisposition_Paediatric","panel_id":152,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:27:06.396031+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:27:06.386806+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:27:01.607172+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCA were changed from  to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:26:34.662236+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCA were set to ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:26:11.940076+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:25:47.192438+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:22:08.566372+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Well established gene-disease association.; to: Well established gene-disease association.\r\n\r\nFanconi anaemia causes genomic instability and is characterised by multiple congenital anomalies including radial ray abnormalities and microcephaly, early-onset bone marrow failure, and a predisposition to cancer. ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:18:32.214321+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:18:32.205113+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:18:13.834376+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCA were changed from  to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:17:57.301344+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7237","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCA were set to ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:17:38.580821+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:17:20.967530+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:16:29.058924+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FANCA as ready","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:16:29.048416+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fanca has been classified as Green List (High Evidence).","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:16:25.784675+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FANCA were changed from  to Fanconi anaemia, complementation group A, MIM# 227650; MONDO:0009215","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:16:02.645952+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FANCA were set to ","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:15:39.408780+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FANCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:15:07.163579+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: None; Publications: 10094191; Phenotypes: Fanconi anaemia, complementation group A, MIM# 227650, MONDO:0009215; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-04-20T20:12:23.572370+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC8 as ready","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:12:23.562687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc8 has been classified as Green List (High Evidence).","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:12:14.498265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7235","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC8 were changed from  to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:11:56.465578+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7234","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC8 were set to ","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:11:40.235307+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7233","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:11:19.891405+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC8 were changed from  to Cockayne syndrome, type A, MIM# 216400; MONDO:0019569; UV-sensitive syndrome 2, MIM# 614621; MONDO:0013829","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:11:13.272302+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7232","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:10:43.033405+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC8 were set to ","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:10:05.372585+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T20:09:17.478892+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 7664335, 19894250; Phenotypes: Cockayne syndrome, type A, MIM# 216400, MONDO:0019569, UV-sensitive syndrome 2, MIM# 614621, MONDO:0013829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC8","entity_type":"gene"},{"created":"2021-04-20T18:20:31.460643+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP1BA as ready","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:20:31.450346+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp1ba has been classified as Green List (High Evidence).","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:20:26.287534+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP1BA were changed from  to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:19:56.920537+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.218","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP1BA were set to ","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:19:29.801586+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.217","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:19:04.451981+10:00","panel_name":"Bleeding and Platelet Disorders","panel_id":54,"panel_version":"0.216","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:18:21.961962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7232","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GP1BA were set to ","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:17:43.814022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7231","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GP1BA as ready","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:17:43.784698+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7231","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gp1ba has been classified as Green List (High Evidence).","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:17:37.147803+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7231","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GP1BA were changed from  to Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); MONDO:0008332; Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); MONDO:0007930","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T18:17:19.393477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7230","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GP1BA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T17:48:18.622879+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7229","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), MONDO:0008332, Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS), MONDO:0007930; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T17:08:05.868904+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7229","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: GP1BA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24934643; Phenotypes: Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS), von Willebrand disease, platelet-type, (MIM#177820), AD (VWD), Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-04-20T15:07:19.128602+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC6 were set to ","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:06:20.491290+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC6 as ready","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:06:20.478289+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc6 has been classified as Green List (High Evidence).","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:06:17.521480+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC6 were changed from  to Cerebrooculofacioskeletal syndrome 1, MIM# 214150; MONDO:0008955; Cockayne syndrome, type B, MIM# 133540; MONDO:0019570; De Sanctis-Cacchione syndrome, MIM# 278800; MONDO:0010217; UV-sensitive syndrome 1, MIM# 600630; MONDO:0010909","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:05:41.673566+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:05:12.979848+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrooculofacioskeletal syndrome 1, MIM# 214150, MONDO:0008955, Cockayne syndrome, type B, MIM# 133540, MONDO:0019570, De Sanctis-Cacchione syndrome, MIM# 278800, MONDO:0010217, UV-sensitive syndrome 1, MIM# 600630, MONDO:0010909; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC6","entity_type":"gene"},{"created":"2021-04-20T15:01:15.990596+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:DHCR7 from the panel","entity_name":null,"entity_type":null},{"created":"2021-04-20T12:39:05.044613+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:39:05.034532+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:39:00.102148+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3693","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC5 were changed from  to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:36:13.411070+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3692","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC5 were set to ","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:35:46.544761+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3691","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:35:19.597254+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3690","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:29:18.984087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7229","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:28:33.209982+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7229","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC5 were set to 30838033; 24700531","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:27:53.075713+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC5 were changed from Cerebrooculofacioskeletal syndrome 3, MIM# 616570; Xeroderma pigmentosum, group G, MIM# 278780; Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 to Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:26:57.509138+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC5 as ready","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:26:57.498743+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc5 has been classified as Green List (High Evidence).","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:26:54.410736+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC5 were changed from  to Cerebrooculofacioskeletal syndrome 3, MIM# 616570; MONDO:0014696; Xeroderma pigmentosum, group G, MIM# 278780; MONDO:0010216","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:26:26.728848+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC5 were set to ","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:25:56.051247+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-20T12:25:31.733829+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: None; Publications: 7951246, 9096355, 9096355, 24700531, 33766032, 33219753; Phenotypes: Cerebrooculofacioskeletal syndrome 3, MIM# 616570, MONDO:0014696, Xeroderma pigmentosum, group G, MIM# 278780, MONDO:0010216; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC5","entity_type":"gene"},{"created":"2021-04-19T22:15:55.138261+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7227","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC4 as ready","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:15:55.117190+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7227","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc4 has been classified as Green List (High Evidence).","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:15:46.707048+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7227","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC4 were changed from  to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:15:28.160255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7226","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC4 were set to ","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:15:09.246399+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7225","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:14:50.718587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7224","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 23623386, 8797827, 23623389, 17183314, 29105242; Phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:13:58.645544+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: ERCC4: Excision repair defect resulting in a range of phenotypes.","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:13:27.123226+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ERCC4 as ready","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:13:27.110772+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ercc4 has been classified as Green List (High Evidence).","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:13:22.629733+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ERCC4 were changed from  to Fanconi anemia, complementation group Q, MIM# 615272; MONDO:0014108; Xeroderma pigmentosum, group F, MIM# 278760; MONDO:0010215; XFE progeroid syndrome, MIM# 610965; MONDO:0012590","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:13:04.933669+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ERCC4 were set to ","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:11:55.882910+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ERCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:11:31.762939+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, MONDO:0010215, XFE progeroid syndrome, MIM# 610965, MONDO:0012590","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-04-19T22:11:00.171221+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ERCC4: Changed phenotypes: Fanconi anemia, complementation group Q, MIM# 615272, MONDO:0014108, Xeroderma pigmentosum, group F, MIM# 278760, XFE progeroid syndrome, MIM# 610965, MONDO:0012590","entity_name":"ERCC4","entity_type":"gene"}]}