{"count":221413,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=573","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=571","results":[{"created":"2023-08-01T16:33:15.887139+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GGCX was added\ngene: GGCX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGCX were set to 32785662; 26758921; 30531603\nPhenotypes for gene: GGCX were set to Vitamin K-dependent clotting factors, combined deficiency of, 1, MIM# 277450","entity_name":"GGCX","entity_type":"gene"},{"created":"2023-08-01T16:33:15.721597+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GFI1B was added\ngene: GFI1B was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: GFI1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GFI1B were set to 24325358; 28041820; 11825872; 23927492\nPhenotypes for gene: GFI1B were set to Bleeding disorder, platelet-type, 17 MIM#187900","entity_name":"GFI1B","entity_type":"gene"},{"created":"2023-08-01T16:33:15.591788+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GCK was added\ngene: GCK was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: GCK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GCK were set to 19790256\nPhenotypes for gene: GCK were set to Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485); MODY, type II, AD (MIM#125851); Diabetes mellitus, permanent neonatal 1, AR (MIM#606176); Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853)","entity_name":"GCK","entity_type":"gene"},{"created":"2023-08-01T16:33:15.474313+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GBA was added\ngene: GBA was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GBA were set to Gaucher disease","entity_name":"GBA","entity_type":"gene"},{"created":"2023-08-01T16:33:15.303330+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GATA6 was added\ngene: GATA6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green\nMode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; Persistent truncus arteriosus, 217095; Tetralogy of Fallot, 187500; Atrial septal defect 9, 614475; Atrioventricular septal defect 5, 614474","entity_name":"GATA6","entity_type":"gene"},{"created":"2023-08-01T16:33:15.197386+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GATA4 was added\ngene: GATA4 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,UKGTN,Expert Review Green\nMode of inheritance for gene: GATA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA4 were set to 20854389; 27810688; 24696446","entity_name":"GATA4","entity_type":"gene"},{"created":"2023-08-01T16:33:15.069980+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GATA1 was added\ngene: GATA1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GATA1 were set to Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, MIM# 300367","entity_name":"GATA1","entity_type":"gene"},{"created":"2023-08-01T16:33:14.897703+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: G6PD was added\ngene: G6PD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green\nMode of inheritance for gene: G6PD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: G6PD were set to Haemolytic anaemia","entity_name":"G6PD","entity_type":"gene"},{"created":"2023-08-01T16:33:14.787476+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLNC was added\ngene: FLNC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FLNC were set to 28356264; 30411535; 31924696\nPhenotypes for gene: FLNC were set to Cardiomyopathy, familial hypertrophic, 26; Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy","entity_name":"FLNC","entity_type":"gene"},{"created":"2023-08-01T16:33:14.671153+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: FLNA were set to 32299270\nPhenotypes for gene: FLNA were set to Macrothrombocytopaenia","entity_name":"FLNA","entity_type":"gene"},{"created":"2023-08-01T16:33:14.493602+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLI1 was added\ngene: FLI1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FLI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FLI1 were set to 28255014; 24100448; 26316623\nPhenotypes for gene: FLI1 were set to Bleeding disorder, platelet-type, 21, MIM# 617443","entity_name":"FLI1","entity_type":"gene"},{"created":"2023-08-01T16:33:14.381823+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FKRP was added\ngene: FKRP was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FKRP were set to PMID: 32914449\nPhenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155","entity_name":"FKRP","entity_type":"gene"},{"created":"2023-08-01T16:33:14.212066+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FKBP10 was added\ngene: FKBP10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FKBP10 were set to Osteogenesis imperfecta, type XI, 610968","entity_name":"FKBP10","entity_type":"gene"},{"created":"2023-08-01T16:33:14.104259+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FHOD3 was added\ngene: FHOD3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: FHOD3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FHOD3 were set to 30442288; 33586461; 32335906; 31742804\nPhenotypes for gene: FHOD3 were set to Cardiomyopathy, familial hypertrophic, 28, MIM# 619402","entity_name":"FHOD3","entity_type":"gene"},{"created":"2023-08-01T16:33:13.991476+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FHL1 was added\ngene: FHL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: FHL1 were set to Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696","entity_name":"FHL1","entity_type":"gene"},{"created":"2023-08-01T16:33:13.823310+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FGG was added\ngene: FGG was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGG were set to 3337908; 11001903; 11001902\nPhenotypes for gene: FGG were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004","entity_name":"FGG","entity_type":"gene"},{"created":"2023-08-01T16:33:13.686866+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FGB was added\ngene: FGB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FGB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGB were set to 12393540; 16195396\nPhenotypes for gene: FGB were set to Afibrinogenaemia, congenital, MIM# 202400; Hypofibrinogenaemia, congenital, MIM# 202400; Dysfibrinogenemia, congenital, MIM# 616004","entity_name":"FGB","entity_type":"gene"},{"created":"2023-08-01T16:33:13.573978+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FGA was added\ngene: FGA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FGA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGA were set to 17295221; 11739173; 19073821; 31064749\nPhenotypes for gene: FGA were set to Afibrinogenemia, congenital (MIM#202400)","entity_name":"FGA","entity_type":"gene"},{"created":"2023-08-01T16:33:13.400298+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FERMT3 was added\ngene: FERMT3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III, MIM# 612840","entity_name":"FERMT3","entity_type":"gene"},{"created":"2023-08-01T16:33:13.299534+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBN1 was added\ngene: FBN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: FBN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FBN1 were set to Marfan syndrome, MIM# 154700","entity_name":"FBN1","entity_type":"gene"},{"created":"2023-08-01T16:33:13.177522+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FAM46A was added\ngene: FAM46A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green, Victorian Clinical Genetics Services\nMode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII, MIM# 617952","entity_name":"FAM46A","entity_type":"gene"},{"created":"2023-08-01T16:33:13.015356+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F9 was added\ngene: F9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: F9 were set to 33656538; 34015304; 19846852\nPhenotypes for gene: F9 were set to Haemophilia B, MIM# 306900; Thrombophilia, X-linked, due to factor IX defect, MIM# 300807; MONDO:0010432; MONDO:0010604","entity_name":"F9","entity_type":"gene"},{"created":"2023-08-01T16:33:12.900879+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F8 was added\ngene: F8 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: F8 were set to 2986011; 3097553\nPhenotypes for gene: F8 were set to Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071; MONDO:0010602; Haemophilia A, MIM# 306700","entity_name":"F8","entity_type":"gene"},{"created":"2023-08-01T16:33:12.784692+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F7 was added\ngene: F7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: F7 were set to 12181036\nPhenotypes for gene: F7 were set to MONDO:0009211; Factor VII deficiency, MIM# 227500","entity_name":"F7","entity_type":"gene"},{"created":"2023-08-01T16:33:12.669892+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F5 was added\ngene: F5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: F5 were set to MONDO:0009210; Factor V deficiency, MIM# 227400; {Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055; MONDO:0008560; Thrombophilia due to activated protein C resistance, MIM# 188055","entity_name":"F5","entity_type":"gene"},{"created":"2023-08-01T16:33:12.506713+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F2 was added\ngene: F2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: F2 were set to 30297698\nPhenotypes for gene: F2 were set to {Pregnancy loss, recurrent, susceptibility to, 2} 614390 AD; Dysprothrombinemia 613679 AR; Hypoprothrombinemia 613679 AR; Thrombophilia due to thrombin defect 188050 AD; {Stroke, ischemic, susceptibility to} 601367 Mu\nMode of pathogenicity for gene: F2 was set to Other","entity_name":"F2","entity_type":"gene"},{"created":"2023-08-01T16:33:12.380318+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F13B was added\ngene: F13B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F13B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: F13B were set to 26247044; 20331752\nPhenotypes for gene: F13B were set to Factor XIIIB deficiency, MIM#613235","entity_name":"F13B","entity_type":"gene"},{"created":"2023-08-01T16:33:12.210876+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F13A1 was added\ngene: F13A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F13A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: F13A1 were set to 1644910; 10027709; 7727776; 32060721; 33802692\nPhenotypes for gene: F13A1 were set to Factor XIIIA deficiency, MIM# 613225; MONDO:0013187","entity_name":"F13A1","entity_type":"gene"},{"created":"2023-08-01T16:33:12.109509+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F11 was added\ngene: F11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F11 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: F11 were set to 18446632; 15026311\nPhenotypes for gene: F11 were set to Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416","entity_name":"F11","entity_type":"gene"},{"created":"2023-08-01T16:33:11.980840+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: F10 was added\ngene: F10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: F10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: F10 were set to 2567188; 10746568; 2790181; 12028042\nPhenotypes for gene: F10 were set to Factor X deficiency, MIM# 227600; MONDO:0009212","entity_name":"F10","entity_type":"gene"},{"created":"2023-08-01T16:33:11.814570+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ETV6 was added\ngene: ETV6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ETV6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETV6 were set to 25807284; 25581430\nPhenotypes for gene: ETV6 were set to Thrombocytopaenia 5, MIM# 616216","entity_name":"ETV6","entity_type":"gene"},{"created":"2023-08-01T16:33:11.686960+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ENG were set to 34012068\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1, MIM# 187300","entity_name":"ENG","entity_type":"gene"},{"created":"2023-08-01T16:33:11.571176+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EIF2B1 was added\ngene: EIF2B1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: EIF2B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EIF2B1 were set to 31882561\nPhenotypes for gene: EIF2B1 were set to Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2023-08-01T16:33:11.412010+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DTNBP1 was added\ngene: DTNBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DTNBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DTNBP1 were set to 23364359; 30990103; 12923531; 28259707\nPhenotypes for gene: DTNBP1 were set to MONDO:0013559; Hermansky-Pudlak syndrome 7, MIM# 614076","entity_name":"DTNBP1","entity_type":"gene"},{"created":"2023-08-01T16:33:11.294987+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DSP was added\ngene: DSP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DSP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DSP were set to 24938629; 20864495; 22240500; 25765472; 11063735; 24108106; 31073624; 15941723; 31983221; 21397041; 23954618; 30345701; 33831308\nPhenotypes for gene: DSP were set to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Carvajal syndrome; Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676","entity_name":"DSP","entity_type":"gene"},{"created":"2023-08-01T16:33:11.173234+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DSG2 was added\ngene: DSG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DSG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DSG2 were set to 33831308\nPhenotypes for gene: DSG2 were set to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193","entity_name":"DSG2","entity_type":"gene"},{"created":"2023-08-01T16:33:11.005778+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DSC2 was added\ngene: DSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: DSC2 were set to 28339476; 18957847; 23863954; 17963498; 17033975; 17186466; 21062920; 33831308\nPhenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476","entity_name":"DSC2","entity_type":"gene"},{"created":"2023-08-01T16:33:10.879185+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DMD was added\ngene: DMD was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: DMD were set to 26066469\nPhenotypes for gene: DMD were set to Cardiomyopathy, dilated, 3B (MIM#302045)","entity_name":"DMD","entity_type":"gene"},{"created":"2023-08-01T16:33:10.702915+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DIAPH1 was added\ngene: DIAPH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DIAPH1 were set to 27808407]; 26912466\nPhenotypes for gene: DIAPH1 were set to Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2023-08-01T16:33:10.587272+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DES was added\ngene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896\nPhenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419","entity_name":"DES","entity_type":"gene"},{"created":"2023-08-01T16:33:10.470825+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYP27A1 was added\ngene: CYP27A1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27A1 were set to 30720493; 20301583; 2019602\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700","entity_name":"CYP27A1","entity_type":"gene"},{"created":"2023-08-01T16:33:10.305466+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CYCS was added\ngene: CYCS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CYCS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYCS were set to 24326104; 30051457; 18345000\nPhenotypes for gene: CYCS were set to Thrombocytopenia 4, MIM# 612004","entity_name":"CYCS","entity_type":"gene"},{"created":"2023-08-01T16:33:10.181409+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CSRP3 was added\ngene: CSRP3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CSRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CSRP3 were set to 18505755; 30681346\nPhenotypes for gene: CSRP3 were set to Cardiomyopathy, hypertrophic, 12, MIM# 612124","entity_name":"CSRP3","entity_type":"gene"},{"created":"2023-08-01T16:33:10.012784+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CRTAP was added\ngene: CRTAP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRTAP were set to 21955071; 17192541; 19846465\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII MIM#610682","entity_name":"CRTAP","entity_type":"gene"},{"created":"2023-08-01T16:33:09.899513+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CREB3L1 was added\ngene: CREB3L1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CREB3L1 were set to 24079343; 29936144; 30657919; 28817112\nPhenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229","entity_name":"CREB3L1","entity_type":"gene"},{"created":"2023-08-01T16:33:09.794007+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COPB2 was added\ngene: COPB2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: COPB2 were set to 34450031\nPhenotypes for gene: COPB2 were set to Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM# 619884","entity_name":"COPB2","entity_type":"gene"},{"created":"2023-08-01T16:33:09.674185+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL3A1 was added\ngene: COL3A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, MIM# 130050","entity_name":"COL3A1","entity_type":"gene"},{"created":"2023-08-01T16:33:09.506460+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL1A2 was added\ngene: COL1A2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: COL1A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: COL1A2 were set to Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, MIM# 619120","entity_name":"COL1A2","entity_type":"gene"},{"created":"2023-08-01T16:33:09.402649+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL1A1 was added\ngene: COL1A1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL1A1 were set to Osteogenesis imperfecta","entity_name":"COL1A1","entity_type":"gene"},{"created":"2023-08-01T16:33:09.293817+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CHST14 was added\ngene: CHST14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CHST14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHST14 were set to Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776","entity_name":"CHST14","entity_type":"gene"},{"created":"2023-08-01T16:33:09.185526+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDKN2A was added\ngene: CDKN2A was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green\nMode of inheritance for gene: CDKN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDKN2A","entity_type":"gene"},{"created":"2023-08-01T16:33:09.071340+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDK4 was added\ngene: CDK4 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green\nMode of inheritance for gene: CDK4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CDK4 were set to Melanoma, cutaneous malignant, MIM#609408","entity_name":"CDK4","entity_type":"gene"},{"created":"2023-08-01T16:33:08.910870+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDC42 was added\ngene: CDC42 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CDC42 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC42 were set to 29394990\nPhenotypes for gene: CDC42 were set to Takenouchi-Kosaki syndrome, MIM#616737","entity_name":"CDC42","entity_type":"gene"},{"created":"2023-08-01T16:33:08.779986+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CCDC134 was added\ngene: CCDC134 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CCDC134 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CCDC134 were set to 32181939; 35019224; 34204301\nPhenotypes for gene: CCDC134 were set to Osteogenesis imperfecta, type XXII, MIM#619795","entity_name":"CCDC134","entity_type":"gene"},{"created":"2023-08-01T16:33:08.621087+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CASR was added\ngene: CASR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CASR were set to 22620673\nPhenotypes for gene: CASR were set to severe hypercalcemia, bone demineralization, multiple fractures; Hyperparathyroidism, neonatal, MIM# 239200","entity_name":"CASR","entity_type":"gene"},{"created":"2023-08-01T16:33:08.501195+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CASQ2 was added\ngene: CASQ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: CASQ2 were set to 16908766; 11704930; 34012068\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938","entity_name":"CASQ2","entity_type":"gene"},{"created":"2023-08-01T16:33:08.388655+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CALM3 was added\ngene: CALM3 was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CALM3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CALM3 were set to 25460178; 31454269\nPhenotypes for gene: CALM3 were set to Long QT syndrome 16, MIM# 618782","entity_name":"CALM3","entity_type":"gene"},{"created":"2023-08-01T16:33:08.269987+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CALM2 was added\ngene: CALM2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CALM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CALM2 were set to 31983240; 31170290\nPhenotypes for gene: CALM2 were set to Long QT syndrome 15 616249; idopathic VF; sudden unexplained death","entity_name":"CALM2","entity_type":"gene"},{"created":"2023-08-01T16:33:08.110919+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CALM1 was added\ngene: CALM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CALM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CALM1 were set to 31170290\nPhenotypes for gene: CALM1 were set to Long QT syndrome 14 616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 614916","entity_name":"CALM1","entity_type":"gene"},{"created":"2023-08-01T16:33:07.994117+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1S was added\ngene: CACNA1S was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CACNA1S were set to Malignant hyperthermia susceptibility 5, MIM# 601887","entity_name":"CACNA1S","entity_type":"gene"},{"created":"2023-08-01T16:33:07.875448+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CACNA1C was added\ngene: CACNA1C was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CACNA1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1C were set to 31983240\nPhenotypes for gene: CACNA1C were set to Long QT syndrome 8, MIM# 618447; Timothy syndrome, MIM# 601005","entity_name":"CACNA1C","entity_type":"gene"},{"created":"2023-08-01T16:33:07.769951+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: C1QBP was added\ngene: C1QBP was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C1QBP were set to 28942965\nPhenotypes for gene: C1QBP were set to Combined oxidative phosphorylation deficiency 33, MIM#617713","entity_name":"C1QBP","entity_type":"gene"},{"created":"2023-08-01T16:33:07.608184+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BRCA2 was added\ngene: BRCA2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: BRCA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA2 were set to Breast-ovarian cancer, familial, 2, MIM#612555","entity_name":"BRCA2","entity_type":"gene"},{"created":"2023-08-01T16:33:07.491230+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BRCA1 was added\ngene: BRCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: BRCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BRCA1 were set to Breast-ovarian cancer, familial, 1, MIM# 604370","entity_name":"BRCA1","entity_type":"gene"},{"created":"2023-08-01T16:33:07.383030+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMPR1A was added\ngene: BMPR1A was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BMPR1A were set to Polyposis, juvenile intestinal, MIM# 174900","entity_name":"BMPR1A","entity_type":"gene"},{"created":"2023-08-01T16:33:07.225848+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMP1 was added\ngene: BMP1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: BMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BMP1 were set to 25214535; 25402547; 22052668; 22482805\nPhenotypes for gene: BMP1 were set to Osteogenesis imperfecta, type XIII , MIM#614856","entity_name":"BMP1","entity_type":"gene"},{"created":"2023-08-01T16:33:07.119060+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BLOC1S6 was added\ngene: BLOC1S6 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: BLOC1S6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S6 were set to 29054114; 33543539; 22461475; 26575419; 32245340; 10610180\nPhenotypes for gene: BLOC1S6 were set to Hermansky-pudlak syndrome 9, MIM# 614171","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2023-08-01T16:33:06.993677+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BLOC1S5 was added\ngene: BLOC1S5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: BLOC1S5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S5 were set to PMID: 32565547\nPhenotypes for gene: BLOC1S5 were set to Hermansky Pudlak syndrome type 11, MIM#619172","entity_name":"BLOC1S5","entity_type":"gene"},{"created":"2023-08-01T16:33:06.888334+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BLOC1S3 was added\ngene: BLOC1S3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: BLOC1S3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BLOC1S3 were set to 32687635; 16385460; 22709368\nPhenotypes for gene: BLOC1S3 were set to Hermansky-Pudlak syndrome 8, MIM# 614077; MONDO:0013560","entity_name":"BLOC1S3","entity_type":"gene"},{"created":"2023-08-01T16:33:06.773478+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAP1 was added\ngene: BAP1 was added to Transplant Co-Morbidity Superpanel. Sources: SA Pathology,Expert Review Green\nMode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327","entity_name":"BAP1","entity_type":"gene"},{"created":"2023-08-01T16:33:06.620936+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAG5 was added\ngene: BAG5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BAG5 were set to 35044787\nPhenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747","entity_name":"BAG5","entity_type":"gene"},{"created":"2023-08-01T16:33:06.495641+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BAG3 was added\ngene: BAG3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: BAG3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BAG3 were set to 25448463; 24623017; 21353195; 29323723; 28737513; 27391596; 25008357; 35802134; 30442290; 31983221; 33947203; 28211974\nPhenotypes for gene: BAG3 were set to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479; Myopathy, myofibrillar, 6, MIM# 612954","entity_name":"BAG3","entity_type":"gene"},{"created":"2023-08-01T16:33:06.383527+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: B4GALT7 was added\ngene: B4GALT7 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B4GALT7 were set to 26940150\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070","entity_name":"B4GALT7","entity_type":"gene"},{"created":"2023-08-01T16:33:06.217927+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: B3GALT6 was added\ngene: B3GALT6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: B3GALT6 were set to 23664118; 23664117\nPhenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075","entity_name":"B3GALT6","entity_type":"gene"},{"created":"2023-08-01T16:33:06.114074+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ATP7B was added\ngene: ATP7B was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease, MIM# 277900","entity_name":"ATP7B","entity_type":"gene"},{"created":"2023-08-01T16:33:05.991605+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ARPC1B was added\ngene: ARPC1B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ARPC1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARPC1B were set to 29127144; 27965109; 28368018; 30254128\nPhenotypes for gene: ARPC1B were set to Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM# 617718","entity_name":"ARPC1B","entity_type":"gene"},{"created":"2023-08-01T16:33:05.882877+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APOE was added\ngene: APOE was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APOE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: APOE were set to Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy","entity_name":"APOE","entity_type":"gene"},{"created":"2023-08-01T16:33:05.776564+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APOC2 was added\ngene: APOC2 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APOC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APOC2 were set to 32280258; 32292609; PMID: 32562799; 26044956\nPhenotypes for gene: APOC2 were set to Hyperlipoproteinemia, type Ib MIM#207750","entity_name":"APOC2","entity_type":"gene"},{"created":"2023-08-01T16:33:05.629662+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APOB was added\ngene: APOB was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APOB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: APOB were set to Hypobetalipoproteinemia, Hypercholesterolemia","entity_name":"APOB","entity_type":"gene"},{"created":"2023-08-01T16:33:05.507240+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APOA5 was added\ngene: APOA5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APOA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: APOA5 were set to Hyperchylomicronemia","entity_name":"APOA5","entity_type":"gene"},{"created":"2023-08-01T16:33:05.409053+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APOA1 was added\ngene: APOA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: APOA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: APOA1 were set to 16023124\nPhenotypes for gene: APOA1 were set to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836","entity_name":"APOA1","entity_type":"gene"},{"created":"2023-08-01T16:33:05.301283+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APC was added\ngene: APC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: APC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APC were set to Adenomatous polyposis coli, MIM# 175100","entity_name":"APC","entity_type":"gene"},{"created":"2023-08-01T16:33:05.197418+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AP3B1 was added\ngene: AP3B1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP3B1 were set to 10024875; 11809908; 14566336\nPhenotypes for gene: AP3B1 were set to Hermansky-Pudlak syndrome 2, MIM# 608233; MONDO:0011997","entity_name":"AP3B1","entity_type":"gene"},{"created":"2023-08-01T16:33:05.099054+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANO6 was added\ngene: ANO6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ANO6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANO6 were set to 21107324; 27879994; 11895776; 27634832\nPhenotypes for gene: ANO6 were set to MONDO:0009885; Scott syndrome, MIM# 262890","entity_name":"ANO6","entity_type":"gene"},{"created":"2023-08-01T16:33:04.985764+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANO5 was added\ngene: ANO5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ANO5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANO5 were set to 30712070; 29175271; 15124103; 30641283\nPhenotypes for gene: ANO5 were set to Gnathodiaphyseal dysplasia MIM#166260","entity_name":"ANO5","entity_type":"gene"},{"created":"2023-08-01T16:33:04.879230+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ANKRD26 was added\ngene: ANKRD26 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ANKRD26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD26 were set to 21211618\nPhenotypes for gene: ANKRD26 were set to Thrombocytopaenia 2, MIM# 188000","entity_name":"ANKRD26","entity_type":"gene"},{"created":"2023-08-01T16:33:04.769974+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALPL was added\ngene: ALPL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia","entity_name":"ALPL","entity_type":"gene"},{"created":"2023-08-01T16:33:04.614684+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALPK3 was added\ngene: ALPK3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ALPK3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ALPK3 were set to 27106955; 26846950; 32480058\nPhenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, MIM#618052","entity_name":"ALPK3","entity_type":"gene"},{"created":"2023-08-01T16:33:04.550604+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ALMS1 was added\ngene: ALMS1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome","entity_name":"ALMS1","entity_type":"gene"},{"created":"2023-08-01T16:33:04.397415+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: AKT2 was added\ngene: AKT2 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AKT2 were set to 17327441; 15166380; 17576055\nPhenotypes for gene: AKT2 were set to Diabetes mellitus, type II, 125853; Severe insulin resistance, partial lipodystrophy and diabetes","entity_name":"AKT2","entity_type":"gene"},{"created":"2023-08-01T16:33:04.286857+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADAMTS13 was added\ngene: ADAMTS13 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS13 were set to 30312976; 11586351\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, hereditary, MIM# 274150","entity_name":"ADAMTS13","entity_type":"gene"},{"created":"2023-08-01T16:33:04.179891+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACVRL1 were set to 34012068\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2, MIM# 600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2023-08-01T16:33:04.024722+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTN1 was added\ngene: ACTN1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ACTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTN1 were set to 23434115\nPhenotypes for gene: ACTN1 were set to Bleeding disorder, platelet-type, 15, MIM# 615193","entity_name":"ACTN1","entity_type":"gene"},{"created":"2023-08-01T16:33:03.919963+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTC1 was added\ngene: ACTC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ACTC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTC1 were set to 26432839; 20600154; 30384889; 14605248; 31430208; 9563954\nPhenotypes for gene: ACTC1 were set to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424","entity_name":"ACTC1","entity_type":"gene"},{"created":"2023-08-01T16:33:03.789872+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ACTB were set to 30315159\nPhenotypes for gene: ACTB were set to Syndromic thrombocytopaenia","entity_name":"ACTB","entity_type":"gene"},{"created":"2023-08-01T16:33:03.621602+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACTA2 was added\ngene: ACTA2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACTA2 were set to Aortic aneurysm, familial thoracic 6, MIM# 611788","entity_name":"ACTA2","entity_type":"gene"},{"created":"2023-08-01T16:33:03.499965+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCG8 was added\ngene: ABCG8 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: ABCG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCG8 were set to 32546081; 23556150\nPhenotypes for gene: ABCG8 were set to Sitosterolemia 1, MIM# 210250","entity_name":"ABCG8","entity_type":"gene"},{"created":"2023-08-01T16:33:03.400521+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCG5 was added\ngene: ABCG5 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABCG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCG5 were set to Sitosterolaemia 2, MIM# 618666","entity_name":"ABCG5","entity_type":"gene"},{"created":"2023-08-01T16:33:03.300873+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCC8 was added\ngene: ABCC8 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; DIABETES MELLITUS, NONINSULIN-DEPENDENT; transient neonatal diabetes (Dominant); Transient Neonatal Diabetes, Dominant; Diabetes mellitus, transient neonatal 2,  610374; Permanent Neonatal Diabetes Mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, noninsulin-dependent, 125853; Permanent neonatal diabetes mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2,  610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6\nMode of pathogenicity for gene: ABCC8 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments","entity_name":"ABCC8","entity_type":"gene"},{"created":"2023-08-01T16:33:03.172507+10:00","panel_name":"Transplant Co-Morbidity Superpanel","panel_id":4126,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCA1 was added\ngene: ABCA1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: ABCA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ABCA1 were set to 10431237; 10431236\nPhenotypes for gene: ABCA1 were set to HDL deficiency, familial, 1, MIM# 604091; Tangier disease, MIM# 205400","entity_name":"ABCA1","entity_type":"gene"}]}