{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1671","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1669","results":[{"created":"2020-08-16T13:54:54.807167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3792","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPRJ was added\ngene: PTPRJ was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPRJ were set to 30591527\nPhenotypes for gene: PTPRJ were set to Thrombocytopaenia\nReview for gene: PTPRJ was set to AMBER\nAdded comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model. \nSources: Expert list","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-16T13:54:45.098838+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PTPRJ were changed from Thrombocytopania to Thrombocytopaenia","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-16T13:53:44.934123+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPRJ as Amber List (moderate evidence)","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-16T13:53:44.926132+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptprj has been classified as Amber List (Moderate Evidence).","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-16T13:53:22.905715+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPRJ was added\ngene: PTPRJ was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PTPRJ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPRJ were set to 30591527\nPhenotypes for gene: PTPRJ were set to Thrombocytopania\nReview for gene: PTPRJ was set to AMBER\nAdded comment: Two siblings reported with nonsyndromic thrombocytopenia characterised by spontaneous bleeding, small-sized platelets, and impaired platelet responses to the GPVI agonists collagen and convulxin. Supportive zebrafish model. \nSources: Expert list","entity_name":"PTPRJ","entity_type":"gene"},{"created":"2020-08-16T13:49:10.824644+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTPN11 as ready","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-16T13:49:10.816527+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Green List (High Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-16T13:49:06.598020+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTPN11 as Green List (high evidence)","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-16T13:49:06.588595+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptpn11 has been classified as Green List (High Evidence).","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-16T13:48:40.345619+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN11 was added\ngene: PTPN11 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM#\t163950\nMode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: PTPN11 was set to GREEN\nAdded comment: Thrombocytopaenia and bleeding tendency are common features of PTPN11-associated Noonan syndrome. \nSources: Expert list","entity_name":"PTPN11","entity_type":"gene"},{"created":"2020-08-16T13:44:48.564373+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTGS1 as ready","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:44:48.554043+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptgs1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:44:40.907494+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTGS1 as Amber List (moderate evidence)","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:44:40.889641+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptgs1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:44:24.743765+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3790","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTGS1 was added\ngene: PTGS1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTGS1 were set to 32299908; 11442478; 27629384; 8562397\nPhenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding\nReview for gene: PTGS1 was set to AMBER\nAdded comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level. \nSources: Expert list","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:44:17.622670+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:42:25.498570+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTGS1 as ready","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:42:25.488064+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptgs1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:42:20.841647+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTGS1 as Amber List (moderate evidence)","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:42:20.831733+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptgs1 has been classified as Amber List (Moderate Evidence).","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:41:51.347465+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PTGS1: Changed publications: 32299908, 11442478, 27629384, 8562397","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:41:44.052060+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTGS1 was added\ngene: PTGS1 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PTGS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTGS1 were set to 32299908; 11442478; 27629384 8562397\nPhenotypes for gene: PTGS1 were set to Platelet dysfunction; bleeding\nReview for gene: PTGS1 was set to AMBER\nAdded comment: Single molecularly characterised family reported. However, note at least two previous older reports where deficiency was identified at protein rather than gene level. \nSources: Expert list","entity_name":"PTGS1","entity_type":"gene"},{"created":"2020-08-16T13:32:22.073390+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKG1 as ready","entity_name":"PRKG1","entity_type":"gene"},{"created":"2020-08-16T13:32:22.062035+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkg1 has been classified as Green List (High Evidence).","entity_name":"PRKG1","entity_type":"gene"},{"created":"2020-08-16T13:32:19.048821+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRKG1 were changed from  to Aortic aneurysm, familial thoracic 8, MIM# 615436","entity_name":"PRKG1","entity_type":"gene"},{"created":"2020-08-16T13:31:53.107605+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRKG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKG1","entity_type":"gene"},{"created":"2020-08-16T13:31:30.435063+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRKG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 8, MIM# 615436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRKG1","entity_type":"gene"},{"created":"2020-08-16T13:29:59.147472+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3789","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACG as ready","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:29:59.136172+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3789","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacg has been classified as Red List (Low Evidence).","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:29:49.450452+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3789","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKACG was added\ngene: PRKACG was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKACG were set to 25061177; 30819905\nPhenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176\nReview for gene: PRKACG was set to RED\nAdded comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual. \nSources: Expert list","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:28:29.665580+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRKACG as ready","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:28:29.656889+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prkacg has been classified as Red List (Low Evidence).","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:28:23.466460+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PRKACG was added\ngene: PRKACG was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PRKACG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRKACG were set to 25061177; 30819905\nPhenotypes for gene: PRKACG were set to Bleeding disorder, platelet-type, 19, MIM# 616176\nReview for gene: PRKACG was set to RED\nAdded comment: Single family reported only. A heterozygous VOUS reported in another individual in PMID 30819905 together with several other VOUS in same individual. \nSources: Expert list","entity_name":"PRKACG","entity_type":"gene"},{"created":"2020-08-16T13:19:58.547445+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLAU as ready","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-16T13:19:58.539002+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plau has been classified as Green List (High Evidence).","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-16T13:19:45.855308+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLAU as Green List (high evidence)","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-16T13:19:45.845249+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plau has been classified as Green List (High Evidence).","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-16T13:19:29.687646+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3787","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PLAU.","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-16T13:19:19.350610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3787","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLAU was added\ngene: PLAU was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLAU were set to 20007542\nPhenotypes for gene: PLAU were set to Quebec platelet disorder, MIM#\t601709\nReview for gene: PLAU was set to GREEN\nAdded comment: Note this is a tandem 78kb duplication of the gene, multiple families reported. \nSources: Expert list","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T19:44:17.664569+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLAU as ready","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T19:44:17.653319+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plau has been classified as Green List (High Evidence).","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T18:54:01.181656+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLAU as Green List (high evidence)","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T18:54:01.172042+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plau has been classified as Green List (High Evidence).","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T18:53:21.646429+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLAU was added\ngene: PLAU was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLAU were set to 20007542\nPhenotypes for gene: PLAU were set to Quebec platelet disorder, MIM#\t601709\nReview for gene: PLAU was set to GREEN\nAdded comment: Note this is a tandem 78kb duplication of the gene. \nSources: Expert list","entity_name":"PLAU","entity_type":"gene"},{"created":"2020-08-15T18:48:33.567716+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3786","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G4A as ready","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:48:33.559192+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g4a has been classified as Green List (High Evidence).","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:48:25.392914+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3786","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLA2G4A as Green List (high evidence)","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:48:25.382911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3786","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g4a has been classified as Green List (High Evidence).","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:48:09.470464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3785","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLA2G4A was added\ngene: PLA2G4A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLA2G4A were set to 18451993; 25102815; 23268370\nPhenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372\nReview for gene: PLA2G4A was set to GREEN\nAdded comment: At least three unrelated individuals reported. \nSources: Expert list","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:46:08.487018+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G4A as ready","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:46:08.475867+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g4a has been classified as Green List (High Evidence).","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:46:02.799840+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLA2G4A as Green List (high evidence)","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:46:02.791982+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g4a has been classified as Green List (High Evidence).","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:45:39.511880+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PLA2G4A was added\ngene: PLA2G4A was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLA2G4A were set to 18451993; 25102815; 23268370\nPhenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM#\t618372\nReview for gene: PLA2G4A was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"PLA2G4A","entity_type":"gene"},{"created":"2020-08-15T18:42:53.710345+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NOTCH1 as ready","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:42:53.699297+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: notch1 has been classified as Green List (High Evidence).","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:42:51.093801+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NOTCH1 were changed from  to Aortic aneurysm","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:42:24.775819+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NOTCH1 were set to ","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:41:58.124100+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NOTCH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:41:34.581831+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NOTCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16729972, 26820064, 16025100, 25963545; Phenotypes: Aortic aneurysm; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NOTCH1","entity_type":"gene"},{"created":"2020-08-15T18:39:12.725688+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NBEAL2 were set to ","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:38:48.873135+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NBEAL2: Changed publications: 21765412, 21765411, 21765413; Changed phenotypes: Gray platelet syndrome, MIM# 139090","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:37:26.555544+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NBEAL2 as ready","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:37:26.544863+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:37:20.970988+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NBEAL2 as Green List (high evidence)","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:37:20.961389+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nbeal2 has been classified as Green List (High Evidence).","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:36:51.138144+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBEAL2 was added\ngene: NBEAL2 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM#\t139090\nReview for gene: NBEAL2 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2020-08-15T18:13:27.027085+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYLK as ready","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-15T18:13:27.013500+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mylk has been classified as Green List (High Evidence).","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-15T18:13:24.714815+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYLK were changed from  to Aortic aneurysm, familial thoracic 7, MIM# 613780","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-15T18:12:58.749411+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYLK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-15T18:12:30.553453+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7, MIM# 613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYLK","entity_type":"gene"},{"created":"2020-08-15T18:10:42.041066+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH9 as ready","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-08-15T18:10:42.027309+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh9 has been classified as Green List (High Evidence).","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-08-15T18:10:35.742256+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYH9 as Green List (high evidence)","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-08-15T18:10:35.732181+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh9 has been classified as Green List (High Evidence).","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-08-15T18:10:07.624821+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH9 was added\ngene: MYH9 was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM#\t155100\nReview for gene: MYH9 was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list","entity_name":"MYH9","entity_type":"gene"},{"created":"2020-08-15T18:08:07.582918+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYH11 as ready","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-15T18:08:07.570498+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myh11 has been classified as Green List (High Evidence).","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-15T18:08:04.751842+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYH11 were changed from  to Aortic aneurysm, familial thoracic 4, MIM# 132900","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-15T18:07:42.264925+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYH11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-15T18:07:19.702821+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4, MIM# 132900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-08-15T18:05:20.756036+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPL as ready","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-15T18:05:20.745400+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpl has been classified as Green List (High Evidence).","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-15T18:05:10.631348+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPL as Green List (high evidence)","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-15T18:05:10.621864+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpl has been classified as Green List (High Evidence).","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-15T18:04:48.752743+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPL was added\ngene: MPL was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPL were set to 11133753\nPhenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM#\t604498\nReview for gene: MPL was set to GREEN\nAdded comment: Well established gene-disease association. \nSources: Expert list","entity_name":"MPL","entity_type":"gene"},{"created":"2020-08-15T17:18:58.330747+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPIG6B as ready","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:18:58.319410+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpig6b has been classified as Green List (High Evidence).","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:18:50.466882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3784","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPIG6B as Green List (high evidence)","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:18:50.457037+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpig6b has been classified as Green List (High Evidence).","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:18:33.809270+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3783","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPIG6B was added\ngene: MPIG6B was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPIG6B were set to 31276734; 29898956; 27743390\nPhenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM#\t617441\nReview for gene: MPIG6B was set to GREEN\nAdded comment: Six families reported. \nSources: Expert list","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:17:02.113410+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPIG6B as ready","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:17:02.086404+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpig6b has been classified as Green List (High Evidence).","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:16:50.601506+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MPIG6B as Green List (high evidence)","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:16:50.593497+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mpig6b has been classified as Green List (High Evidence).","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T17:16:27.139672+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPIG6B was added\ngene: MPIG6B was added to Bleeding Disorders. Sources: Expert list\nMode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPIG6B were set to 31276734; 29898956; 27743390\nPhenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM#\t617441\nReview for gene: MPIG6B was set to GREEN\nAdded comment: Six families reported. \nSources: Expert list","entity_name":"MPIG6B","entity_type":"gene"},{"created":"2020-08-15T16:40:15.462333+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFAP5 as ready","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-08-15T16:40:15.453658+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mfap5 has been classified as Amber List (Moderate Evidence).","entity_name":"MFAP5","entity_type":"gene"},{"created":"2020-08-15T16:40:12.502054+10:00","panel_name":"Bleeding Disorders","panel_id":54,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MFAP5 were changed from  to Aortic aneurysm, familial thoracic MIM# 616166","entity_name":"MFAP5","entity_type":"gene"}]}