{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1090","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1088","results":[{"created":"2021-12-10T15:18:02.799177+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1165","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CASR: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hyperparathyroidism, neonatal, MIM# 239200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CASR","entity_type":"gene"},{"created":"2021-12-10T15:10:40.018799+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG1 were set to 19558595; 23974871; 29229434","entity_name":"DSG1","entity_type":"gene"},{"created":"2021-12-10T15:10:24.647053+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DSG1 were set to 19558595; 23974871","entity_name":"DSG1","entity_type":"gene"},{"created":"2021-12-10T15:09:37.836828+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DSG1 as Green List (high evidence)","entity_name":"DSG1","entity_type":"gene"},{"created":"2021-12-10T15:09:37.826455+11:00","panel_name":"Epidermolysis bullosa","panel_id":101,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dsg1 has been classified as Green List (High Evidence).","entity_name":"DSG1","entity_type":"gene"},{"created":"2021-12-10T15:08:27.325122+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10188","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFAP65 were set to 31501240; 31413122","entity_name":"CFAP65","entity_type":"gene"},{"created":"2021-12-10T15:07:44.254706+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNF212 as ready","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T15:07:44.243934+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf212 has been classified as Red List (Low Evidence).","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T15:07:34.903269+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNF212 were changed from  to Recombination rate QTL 1, MIM#612042","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T15:07:11.842301+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RNF212 were set to ","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T15:06:46.311398+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10185","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RNF212 as Red List (low evidence)","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T15:06:46.301229+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10185","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnf212 has been classified as Red List (Low Evidence).","entity_name":"RNF212","entity_type":"gene"},{"created":"2021-12-10T14:39:06.238468+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ABCB7","entity_type":"gene"},{"created":"2021-12-10T13:57:05.828963+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: XRCC2 was added\ngene: XRCC2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: XRCC2 was set to Unknown\nPhenotypes for gene: XRCC2 were set to Fanconi anemia, complementation group U, MIM# 617247","entity_name":"XRCC2","entity_type":"gene"},{"created":"2021-12-10T13:57:05.782155+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WRAP53 was added\ngene: WRAP53 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WRAP53 was set to Unknown\nPhenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, MIM# 613988","entity_name":"WRAP53","entity_type":"gene"},{"created":"2021-12-10T13:57:05.734796+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WIPF1 was added\ngene: WIPF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WIPF1 was set to Unknown\nPhenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493","entity_name":"WIPF1","entity_type":"gene"},{"created":"2021-12-10T13:57:05.687241+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: WAS was added\ngene: WAS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: WAS was set to Unknown\nPhenotypes for gene: WAS were set to Thrombocytopenia, X-linked, MIM# 313900; Wiskott-Aldrich syndrome, MIM# 301000","entity_name":"WAS","entity_type":"gene"},{"created":"2021-12-10T13:57:05.640579+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: VPS45 was added\ngene: VPS45 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: VPS45 was set to Unknown\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285","entity_name":"VPS45","entity_type":"gene"},{"created":"2021-12-10T13:57:05.583914+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: UBE2T was added\ngene: UBE2T was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: UBE2T was set to Unknown\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, MIM# 616435","entity_name":"UBE2T","entity_type":"gene"},{"created":"2021-12-10T13:57:05.512229+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TINF2 was added\ngene: TINF2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TINF2 was set to Unknown\nPhenotypes for gene: TINF2 were set to Revesz syndrome, MIM# 268130; Dyskeratosis congenita, autosomal dominant 3, MIM# 613990","entity_name":"TINF2","entity_type":"gene"},{"created":"2021-12-10T13:57:05.440430+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: THPO was added\ngene: THPO was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: THPO was set to Unknown\nPhenotypes for gene: THPO were set to Thrombocytopenia progressing to trilineage bone marrow failure","entity_name":"THPO","entity_type":"gene"},{"created":"2021-12-10T13:57:05.393464+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TERT was added\ngene: TERT was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TERT was set to Unknown\nPhenotypes for gene: TERT were set to Dyskeratosis congenita, MIM# 613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742","entity_name":"TERT","entity_type":"gene"},{"created":"2021-12-10T13:57:05.346893+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TERC was added\ngene: TERC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: TERC was set to Unknown\nPhenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550","entity_name":"TERC","entity_type":"gene"},{"created":"2021-12-10T13:57:05.295169+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SRP54 was added\ngene: SRP54 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SRP54 was set to Unknown\nPhenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features","entity_name":"SRP54","entity_type":"gene"},{"created":"2021-12-10T13:57:05.244720+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLX4 was added\ngene: SLX4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLX4 was set to Unknown\nPhenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, MIM# 613951","entity_name":"SLX4","entity_type":"gene"},{"created":"2021-12-10T13:57:05.197864+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC25A38 was added\ngene: SLC25A38 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLC25A38 was set to Unknown\nPhenotypes for gene: SLC25A38 were set to Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950","entity_name":"SLC25A38","entity_type":"gene"},{"created":"2021-12-10T13:57:05.150833+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC19A2 was added\ngene: SLC19A2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to Unknown\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270","entity_name":"SLC19A2","entity_type":"gene"},{"created":"2021-12-10T13:57:05.098660+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SEC23B was added\ngene: SEC23B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SEC23B was set to Unknown\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II , MIM#224100","entity_name":"SEC23B","entity_type":"gene"},{"created":"2021-12-10T13:57:05.049902+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SBDS was added\ngene: SBDS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SBDS was set to Unknown\nPhenotypes for gene: SBDS were set to Shwachman-Diamond syndrome, MIM# 260400","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-12-10T13:57:05.002996+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMD9L was added\ngene: SAMD9L was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SAMD9L was set to Unknown\nPhenotypes for gene: SAMD9L were set to Ataxia-pancytopenia syndrome, MIM# 159550","entity_name":"SAMD9L","entity_type":"gene"},{"created":"2021-12-10T13:57:04.955174+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAMD9 was added\ngene: SAMD9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: SAMD9 was set to Unknown\nPhenotypes for gene: SAMD9 were set to MIRAGE syndrome, MIM#617053","entity_name":"SAMD9","entity_type":"gene"},{"created":"2021-12-10T13:57:04.908448+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RUNX1 was added\ngene: RUNX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RUNX1 was set to Unknown\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399","entity_name":"RUNX1","entity_type":"gene"},{"created":"2021-12-10T13:57:04.859847+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RTEL1 was added\ngene: RTEL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RTEL1 was set to Unknown\nPhenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, MIM# 616373; Dyskeratosis congenita, MIM# 615190","entity_name":"RTEL1","entity_type":"gene"},{"created":"2021-12-10T13:57:04.812496+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS7 was added\ngene: RPS7 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS7 was set to Unknown\nPhenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8, MIM# 612563; MONDO:0012939","entity_name":"RPS7","entity_type":"gene"},{"created":"2021-12-10T13:57:04.766347+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS29 was added\ngene: RPS29 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS29 was set to Unknown\nPhenotypes for gene: RPS29 were set to Diamond-Blackfan anemia 13, MIM# 615909","entity_name":"RPS29","entity_type":"gene"},{"created":"2021-12-10T13:57:04.718943+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS27 was added\ngene: RPS27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS27 was set to Unknown\nPhenotypes for gene: RPS27 were set to Diamond-Blackfan anemia 17, MIM# 617409","entity_name":"RPS27","entity_type":"gene"},{"created":"2021-12-10T13:57:04.672756+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS26 was added\ngene: RPS26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS26 was set to Unknown\nPhenotypes for gene: RPS26 were set to MONDO:0013217; Diamond-Blackfan anemia 10, MIM# 613309","entity_name":"RPS26","entity_type":"gene"},{"created":"2021-12-10T13:57:04.626683+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS24 was added\ngene: RPS24 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS24 was set to Unknown\nPhenotypes for gene: RPS24 were set to MONDO:0012529; Diamond-blackfan anemia 3, MIM# 610629","entity_name":"RPS24","entity_type":"gene"},{"created":"2021-12-10T13:57:04.578086+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS20 was added\ngene: RPS20 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS20 was set to Unknown\nPhenotypes for gene: RPS20 were set to Diamond Blackfan anaemia","entity_name":"RPS20","entity_type":"gene"},{"created":"2021-12-10T13:57:04.532032+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS19 was added\ngene: RPS19 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS19 was set to Unknown\nPhenotypes for gene: RPS19 were set to Diamond-Blackfan anemia 1, MIM# 105650; MONDO:0007110","entity_name":"RPS19","entity_type":"gene"},{"created":"2021-12-10T13:57:04.478181+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS17 was added\ngene: RPS17 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS17 was set to Unknown\nPhenotypes for gene: RPS17 were set to Diamond-Blackfan anaemia 4, MIM# 612527; MONDO:0012924","entity_name":"RPS17","entity_type":"gene"},{"created":"2021-12-10T13:57:04.432576+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPS10 was added\ngene: RPS10 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPS10 was set to Unknown\nPhenotypes for gene: RPS10 were set to Diamond-Blackfan anaemia 9, MIM# 613308","entity_name":"RPS10","entity_type":"gene"},{"created":"2021-12-10T13:57:04.386334+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL9 was added\ngene: RPL9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL9 was set to Unknown\nPhenotypes for gene: RPL9 were set to Diamond Blackfan anaemia","entity_name":"RPL9","entity_type":"gene"},{"created":"2021-12-10T13:57:04.337325+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL5 was added\ngene: RPL5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL5 was set to Unknown\nPhenotypes for gene: RPL5 were set to MONDO:0012937; Diamond-Blackfan anaemia 6, MIM# 612561","entity_name":"RPL5","entity_type":"gene"},{"created":"2021-12-10T13:57:04.290730+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL35A was added\ngene: RPL35A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL35A was set to Unknown\nPhenotypes for gene: RPL35A were set to MONDO:0012925; Diamond-Blackfan anemia 5, MIM# 612528","entity_name":"RPL35A","entity_type":"gene"},{"created":"2021-12-10T13:57:04.243065+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL31 was added\ngene: RPL31 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL31 was set to Unknown\nPhenotypes for gene: RPL31 were set to Diamond Blackfan anaemia","entity_name":"RPL31","entity_type":"gene"},{"created":"2021-12-10T13:57:04.191345+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL27 was added\ngene: RPL27 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL27 was set to Unknown\nPhenotypes for gene: RPL27 were set to Diamond-Blackfan anemia 16, MIM# 617408","entity_name":"RPL27","entity_type":"gene"},{"created":"2021-12-10T13:57:04.146180+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL26 was added\ngene: RPL26 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL26 was set to Unknown\nPhenotypes for gene: RPL26 were set to Diamond-Blackfan anemia 11, MIM# 614900","entity_name":"RPL26","entity_type":"gene"},{"created":"2021-12-10T13:57:04.098267+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL15 was added\ngene: RPL15 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL15 was set to Unknown\nPhenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, MIM# 615550","entity_name":"RPL15","entity_type":"gene"},{"created":"2021-12-10T13:57:04.052830+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPL11 was added\ngene: RPL11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPL11 was set to Unknown\nPhenotypes for gene: RPL11 were set to Diamond-Blackfan anemia 7, MIM# 612562; MONDO:0012938","entity_name":"RPL11","entity_type":"gene"},{"created":"2021-12-10T13:57:04.008231+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RPA1 was added\ngene: RPA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RPA1 was set to Unknown\nPhenotypes for gene: RPA1 were set to New TBD gene ASH 2020 St Judes","entity_name":"RPA1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.963526+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RBM8A was added\ngene: RBM8A was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RBM8A was set to Unknown\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000","entity_name":"RBM8A","entity_type":"gene"},{"created":"2021-12-10T13:57:03.919411+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD51C was added\ngene: RAD51C was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: RAD51C was set to Unknown\nPhenotypes for gene: RAD51C were set to Fanconi anemia, complementation group O, MIM# 613390","entity_name":"RAD51C","entity_type":"gene"},{"created":"2021-12-10T13:57:03.874753+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUS1 was added\ngene: PUS1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PUS1 was set to Unknown\nPhenotypes for gene: PUS1 were set to Myopathy, lactic acidosis, and sideroblastic anemia 1, MIM# 600462","entity_name":"PUS1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.830114+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PARN was added\ngene: PARN was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PARN was set to Unknown\nPhenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, MIM# 616371; Dyskeratosis congenita, autosomal recessive 6, MIM# 616353","entity_name":"PARN","entity_type":"gene"},{"created":"2021-12-10T13:57:03.786285+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PALB2 was added\ngene: PALB2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: PALB2 was set to Unknown\nPhenotypes for gene: PALB2 were set to Fanconi anaemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-12-10T13:57:03.742414+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NHP2 was added\ngene: NHP2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: NHP2 was set to Unknown\nPhenotypes for gene: NHP2 were set to Dyskeratosis congenita, autosomal recessive 2, MIM# 613987","entity_name":"NHP2","entity_type":"gene"},{"created":"2021-12-10T13:57:03.698745+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NBEAL2 was added\ngene: NBEAL2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: NBEAL2 was set to Unknown\nPhenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090","entity_name":"NBEAL2","entity_type":"gene"},{"created":"2021-12-10T13:57:03.654476+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYSM1 was added\ngene: MYSM1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MYSM1 was set to Unknown\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#618116","entity_name":"MYSM1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.604475+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MYH9 was added\ngene: MYH9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MYH9 was set to Unknown\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100","entity_name":"MYH9","entity_type":"gene"},{"created":"2021-12-10T13:57:03.560239+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MPL was added\ngene: MPL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MPL was set to Unknown\nPhenotypes for gene: MPL were set to Thrombocythemia 2, MIM#601977, AD, SMu; Thrombocytopenia, congenital amegakaryocytic, MIM#604498, AR; Myelofibrosis with myeloid metaplasia, somatic, MIM#254450","entity_name":"MPL","entity_type":"gene"},{"created":"2021-12-10T13:57:03.499292+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MECOM was added\ngene: MECOM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: MECOM was set to Unknown\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM#616738; Bone marrow failure without radioulnar synostosis (RUS)","entity_name":"MECOM","entity_type":"gene"},{"created":"2021-12-10T13:57:03.448573+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LYST was added\ngene: LYST was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: LYST was set to Unknown\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome (CHS)","entity_name":"LYST","entity_type":"gene"},{"created":"2021-12-10T13:57:03.402390+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LIG4 was added\ngene: LIG4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: LIG4 was set to Unknown\nPhenotypes for gene: LIG4 were set to LIG4 syndrome, MIM# 606593; DNA ligase IV deficiency, MONDO:0011686","entity_name":"LIG4","entity_type":"gene"},{"created":"2021-12-10T13:57:03.356956+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLF1 was added\ngene: KLF1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: KLF1 was set to Unknown\nPhenotypes for gene: KLF1 were set to MONDO:0013355; Dyserythropoietic anaemia, congenital, type IV, MIM# 613673","entity_name":"KLF1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.311713+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAGN1 was added\ngene: JAGN1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: JAGN1 was set to Unknown\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022","entity_name":"JAGN1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.265148+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGB3 was added\ngene: ITGB3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ITGB3 was set to Unknown\nPhenotypes for gene: ITGB3 were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16","entity_name":"ITGB3","entity_type":"gene"},{"created":"2021-12-10T13:57:03.220478+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITGA2B was added\ngene: ITGA2B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ITGA2B was set to Unknown\nPhenotypes for gene: ITGA2B were set to Glanzmann thrombasthenia, Platelet-type bleeding disorder 16","entity_name":"ITGA2B","entity_type":"gene"},{"created":"2021-12-10T13:57:03.176185+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HOXA11 was added\ngene: HOXA11 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: HOXA11 was set to Unknown\nPhenotypes for gene: HOXA11 were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, MIM# 605432","entity_name":"HOXA11","entity_type":"gene"},{"created":"2021-12-10T13:57:03.129737+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HAX1 was added\ngene: HAX1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: HAX1 was set to Unknown\nPhenotypes for gene: HAX1 were set to Kostmann syndrome MONDO:0012548; Neutropaenia, severe congenital 3, autosomal recessive, MIM# 610738","entity_name":"HAX1","entity_type":"gene"},{"created":"2021-12-10T13:57:03.085071+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GP9 was added\ngene: GP9 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP9 was set to Unknown\nPhenotypes for gene: GP9 were set to Bernard-Soulier syndrome (BSS)","entity_name":"GP9","entity_type":"gene"},{"created":"2021-12-10T13:57:03.035709+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GP1BB was added\ngene: GP1BB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP1BB was set to Unknown\nPhenotypes for gene: GP1BB were set to Bernard-Soulier syndrome (BSS)","entity_name":"GP1BB","entity_type":"gene"},{"created":"2021-12-10T13:57:02.984508+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GP1BA was added\ngene: GP1BA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GP1BA was set to Unknown\nPhenotypes for gene: GP1BA were set to Bernard-Soulier syndrome (BSS)","entity_name":"GP1BA","entity_type":"gene"},{"created":"2021-12-10T13:57:02.941185+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GLRX5 was added\ngene: GLRX5 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GLRX5 was set to Unknown\nPhenotypes for gene: GLRX5 were set to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860","entity_name":"GLRX5","entity_type":"gene"},{"created":"2021-12-10T13:57:02.897512+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFI1B was added\ngene: GFI1B was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GFI1B was set to Unknown\nPhenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17","entity_name":"GFI1B","entity_type":"gene"},{"created":"2021-12-10T13:57:02.852963+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GFI1 was added\ngene: GFI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GFI1 was set to Unknown\nPhenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107","entity_name":"GFI1","entity_type":"gene"},{"created":"2021-12-10T13:57:02.806316+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA2 was added\ngene: GATA2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GATA2 was set to Unknown\nPhenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML MONDO:0042982; Immunodeficiency 21, MIM# 614172; Emberger syndrome, MIM# 614038; Deafness-lymphoedema-leukaemia syndrome MONDO:0013540","entity_name":"GATA2","entity_type":"gene"},{"created":"2021-12-10T13:57:02.761089+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: GATA1 was set to Unknown\nPhenotypes for gene: GATA1 were set to Thrombocytopaenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2021-12-10T13:57:02.710510+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: G6PC3 was added\ngene: G6PC3 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: G6PC3 was set to Unknown\nPhenotypes for gene: G6PC3 were set to Dursun syndrome, MIM# 612541; MONDO:0012930; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541","entity_name":"G6PC3","entity_type":"gene"},{"created":"2021-12-10T13:57:02.665572+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FLI1 was added\ngene: FLI1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FLI1 was set to Unknown\nPhenotypes for gene: FLI1 were set to Paris-Trousseau thrombocytopenia and Jacobson syndrome","entity_name":"FLI1","entity_type":"gene"},{"created":"2021-12-10T13:57:02.620810+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCM was added\ngene: FANCM was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCM was set to Unknown\nPhenotypes for gene: FANCM were set to Fanconi anaemia","entity_name":"FANCM","entity_type":"gene"},{"created":"2021-12-10T13:57:02.569990+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCL was added\ngene: FANCL was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCL was set to Unknown\nPhenotypes for gene: FANCL were set to Fanconi anemia, complementation group L, MIM# 614083; MONDO:0013566","entity_name":"FANCL","entity_type":"gene"},{"created":"2021-12-10T13:57:02.521251+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCI was added\ngene: FANCI was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCI was set to Unknown\nPhenotypes for gene: FANCI were set to Fanconi anemia, complementation group I, MIM# 609053; MONDO:0012186","entity_name":"FANCI","entity_type":"gene"},{"created":"2021-12-10T13:57:02.462541+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCG was added\ngene: FANCG was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCG was set to Unknown\nPhenotypes for gene: FANCG were set to MONDO:0013565; Fanconi anaemia, complementation group G, MIM# 614082","entity_name":"FANCG","entity_type":"gene"},{"created":"2021-12-10T13:57:02.416493+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCF was added\ngene: FANCF was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCF was set to Unknown\nPhenotypes for gene: FANCF were set to Fanconi anaemia, complementation group F 603467; MONDO:0011325","entity_name":"FANCF","entity_type":"gene"},{"created":"2021-12-10T13:57:02.368796+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCE was added\ngene: FANCE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCE was set to Unknown\nPhenotypes for gene: FANCE were set to Fanconi anaemia, complementation group E, MIM# 600901; MONDO:0010953","entity_name":"FANCE","entity_type":"gene"},{"created":"2021-12-10T13:57:02.323658+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCD2 was added\ngene: FANCD2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCD2 was set to Unknown\nPhenotypes for gene: FANCD2 were set to Fanconi anaemia, complementation group D2, MIM# 227646; MONDO:0009214","entity_name":"FANCD2","entity_type":"gene"},{"created":"2021-12-10T13:57:02.272799+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCC was added\ngene: FANCC was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCC was set to Unknown\nPhenotypes for gene: FANCC were set to MONDO:0009213; Fanconi anemia, complementation group C, MIM# 227645","entity_name":"FANCC","entity_type":"gene"},{"created":"2021-12-10T13:57:02.231030+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCB was added\ngene: FANCB was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCB was set to Unknown\nPhenotypes for gene: FANCB were set to Fanconi anaemia, complementation group B, MIM# 300514","entity_name":"FANCB","entity_type":"gene"},{"created":"2021-12-10T13:57:02.189205+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: FANCA was added\ngene: FANCA was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: FANCA was set to Unknown\nPhenotypes for gene: FANCA were set to MONDO:0009215; Fanconi anaemia, complementation group A, MIM# 227650","entity_name":"FANCA","entity_type":"gene"},{"created":"2021-12-10T13:57:02.147149+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETV6 was added\ngene: ETV6 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ETV6 was set to Unknown\nPhenotypes for gene: ETV6 were set to Thrombocytopenia 5, MIM# 616216","entity_name":"ETV6","entity_type":"gene"},{"created":"2021-12-10T13:57:02.105627+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC6L2 was added\ngene: ERCC6L2 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ERCC6L2 was set to Unknown\nPhenotypes for gene: ERCC6L2 were set to Bone marrow failure syndrome 2, MIM# 615715","entity_name":"ERCC6L2","entity_type":"gene"},{"created":"2021-12-10T13:57:02.063826+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ERCC4 was added\ngene: ERCC4 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ERCC4 was set to Unknown\nPhenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, MIM# 615272","entity_name":"ERCC4","entity_type":"gene"},{"created":"2021-12-10T13:57:02.021694+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ELANE was added\ngene: ELANE was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: ELANE was set to Unknown\nPhenotypes for gene: ELANE were set to Neutropenia, severe congenital 1, autosomal dominant, MIM# 202700","entity_name":"ELANE","entity_type":"gene"},{"created":"2021-12-10T13:57:01.978697+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: EFL1 was added\ngene: EFL1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: EFL1 was set to Unknown\nPhenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2, MIM# 617941","entity_name":"EFL1","entity_type":"gene"},{"created":"2021-12-10T13:57:01.937255+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC21 was added\ngene: DNAJC21 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DNAJC21 was set to Unknown\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM# 617052","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2021-12-10T13:57:01.895054+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DKC1 was added\ngene: DKC1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DKC1 was set to Unknown\nPhenotypes for gene: DKC1 were set to Hoyeraal-Hreidarsson Syndrome; Dyskeratosis congenita, X-linked 305000","entity_name":"DKC1","entity_type":"gene"},{"created":"2021-12-10T13:57:01.853415+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DIAPH1 was added\ngene: DIAPH1 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DIAPH1 was set to Unknown\nPhenotypes for gene: DIAPH1 were set to Macrothrombocytopenia and sensorineural hearing loss","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2021-12-10T13:57:01.810723+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DDX41 was added\ngene: DDX41 was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: DDX41 was set to Unknown\nPhenotypes for gene: DDX41 were set to {Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to} MIM# 616871","entity_name":"DDX41","entity_type":"gene"},{"created":"2021-12-10T13:57:01.768560+11:00","panel_name":"IBMDx study","panel_id":3829,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYCS was added\ngene: CYCS was added to IBMDx study. Sources: IBMDx Study,Expert Review Green\nMode of inheritance for gene: CYCS was set to Unknown\nPhenotypes for gene: CYCS were set to Autosomal dominant thrombocytopenia 4","entity_name":"CYCS","entity_type":"gene"}]}