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"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=573",
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{
"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"
}
]
}