{"count":220497,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1540","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1538","results":[{"created":"2020-10-15T15:57:03.947431+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan anemia 8, 612563; 612563 Diamond_Blackfan Anemia 8; DIAMOND-BLACKFAN ANEMIA 8; Diamond-Blackfan Anemia; 612563 Diamond-Blackfan anemia 8; Diamond_Blackfan Anemia 8 for gene: RPS7","entity_name":"RPS7","entity_type":"gene"},{"created":"2020-10-15T15:57:03.888546+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond-Blackfan anemia 13, 615909; 615909 Diamond-Blackfan anemia 13 for gene: RPS29","entity_name":"RPS29","entity_type":"gene"},{"created":"2020-10-15T15:57:03.831306+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409; 617409 ?Diamond-Blackfan anemia 17, for gene: RPS27\nPublications for gene RPS27 were updated from 23718193; 25424902 to 25424902; 23718193","entity_name":"RPS27","entity_type":"gene"},{"created":"2020-10-15T15:57:03.773467+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond-Blackfan anemia 10, 613309; Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan anemia 10; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 613309 Diamond_Blackfan Anemia 10; Diamond_Blackfan Anemia 10; 613309 Diamond-Blackfan anemia 10 for gene: RPS26\nPublications for gene RPS26 were updated from 23812780; 20116044; 24942156 to 24942156; 20116044; 23812780","entity_name":"RPS26","entity_type":"gene"},{"created":"2020-10-15T15:57:03.715284+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond-Blackfan Anemia 3; Diamond-blackfan anemia 3, 610629; Diamond Blackfan anemia; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 3; Diamond_Blackfan Anemia 3; 610629 Diamond_Blackfan Anemia 3; 610629 Diamond-blackfan anemia 3 for gene: RPS24","entity_name":"RPS24","entity_type":"gene"},{"created":"2020-10-15T15:57:03.657604+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 105650 Diamond-Blackfan anemia 1; 105650 Diamond_Blackfan Anemia 1; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 1; Diamond-Blackfan anemia 1, 105650; Diamond_Blackfan Anemia for gene: RPS19","entity_name":"RPS19","entity_type":"gene"},{"created":"2020-10-15T15:57:03.600407+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond-Blackfan anemia 4, 612527; 612527 Diamond-Blackfan anemia 4 for gene: RPS17\nPublications for gene RPS17 were updated from 19953637; 19061985; 17647292; 22045982 to 17647292; 22045982; 19953637; 19061985","entity_name":"RPS17","entity_type":"gene"},{"created":"2020-10-15T15:57:03.542393+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 613308 Diamond-Blackfan anemia 9; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 9; Diamond-Blackfan Anemia 9; Diamond-Blackfan Anemia; Diamond-Blackfan anemia 9, 613308; 613308 Diamond_Blackfan Anemia 9; Diamond_Blackfan Anemia 9 for gene: RPS10","entity_name":"RPS10","entity_type":"gene"},{"created":"2020-10-15T15:57:03.485226+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia for gene: RPL9","entity_name":"RPL9","entity_type":"gene"},{"created":"2020-10-15T15:57:03.427250+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; 612561 Diamond-Blackfan anemia 6; Diamond-Blackfan anemia 6, 612561; Diamond-Blackfan Anemia 6; 612561 Diamond_Blackfan Anemia 6; Diamond-Blackfan Anemia; DIAMOND-BLACKFAN ANEMIA 6; Diamond_Blackfan Anemia 6 for gene: RPL5","entity_name":"RPL5","entity_type":"gene"},{"created":"2020-10-15T15:57:03.367373+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Inherited Bone Marrow Failure Syndromes; DIAMOND-BLACKFAN ANEMIA 5; Diamond-Blackfan anemia 5, 612528; 612528 Diamond-Blackfan anemia 5; Diamond Blackfan anemia; Diamond-Blackfan Anemia; Diamond-Blackfan Anemia 5; 612528 Diamond_Blackfan Anemia 5; Diamond_Blackfan Anemia 5 for gene: RPL35A","entity_name":"RPL35A","entity_type":"gene"},{"created":"2020-10-15T15:57:03.293900+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes N/A ? Diamond-Blackfan Anaemia for gene: RPL31","entity_name":"RPL31","entity_type":"gene"},{"created":"2020-10-15T15:57:03.216307+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond-Blackfan anemia; Diamond-Blackfan anemia 16, 617408 for gene: RPL27","entity_name":"RPL27","entity_type":"gene"},{"created":"2020-10-15T15:57:03.113162+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes ?Diamond-Blackfan anemia 11, 614900; 614900 ?Diamond-Blackfan anemia 11 for gene: RPL26","entity_name":"RPL26","entity_type":"gene"},{"created":"2020-10-15T15:57:03.035048+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 615550 ?Diamond-Blackfan anaemia 12; ?Diamond-Blackfan anemia 12, 615550; 615550 ?Diamond-Blackfan anemia 1 for gene: RPL15","entity_name":"RPL15","entity_type":"gene"},{"created":"2020-10-15T15:57:02.953895+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond_Blackfan Anemia 7; Inherited Bone Marrow Failure Syndromes; Diamond Blackfan anemia; Diamond-Blackfan Anemia; 612562 Diamond-Blackfan anemia 7; Diamond-Blackfan Anemia 7; 612562 Diamond_Blackfan Anemia 7; DIAMOND-BLACKFAN ANEMIA 7; Diamond-Blackfan anemia 7, 612562 for gene: RPL11","entity_name":"RPL11","entity_type":"gene"},{"created":"2020-10-15T15:57:02.866475+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Stomatocytosis; Anemia, hemolytic, Rh-null, regulator type (BIALLELIC, autosomal or pseudoautosomal), 268150; 185000 Overhydrated hereditary stomatocytosis; Overhydrated hereditary stomatocytosis (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 185000; 268150 Anemia, hemolytic, Rh-null, regulator type for gene: RHAG","entity_name":"RHAG","entity_type":"gene"},{"created":"2020-10-15T15:57:02.808814+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 600462 Myopathy, lactic acidosis, and sideroblastic anemia 1; Myopathy, Lactic Acidosis, and Sideroblastic Anemia, 600462; 600462 Myopathy, Lactic Acidosis, and Sideroblastic Anemia for gene: PUS1","entity_name":"PUS1","entity_type":"gene"},{"created":"2020-10-15T15:57:02.746068+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Enzyme Disorder; PYRUVATE KINASE DEFICIENCY; 266200 Pyruvate kinase deficiency; Pyruvate kinase deficiency, 266200; 266200 PYRUVATE KINASE DEFICIENCY; Pyruvate kinase deficiency for gene: PKLR","entity_name":"PKLR","entity_type":"gene"},{"created":"2020-10-15T15:57:02.687355+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 194380 Stomatocytosis; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380; Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Stomatocytosis; Dehydrated hereditary stomatocytosis; 616843 Lymphatic malformation 6; 194380 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema; Hereditary xerocytosis for gene: PIEZO1","entity_name":"PIEZO1","entity_type":"gene"},{"created":"2020-10-15T15:57:02.620214+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Glycogen storage disease VII, 232800; 232800 Glycogen storage disease VII for gene: PFKM","entity_name":"PFKM","entity_type":"gene"},{"created":"2020-10-15T15:57:02.562483+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Anemia, hemolytic, due to UMPH1 deficiency, 266120; 266120 Anemia, hemolytic, due to UMPH1 deficiency for gene: NT5C3A\nPublications for gene NT5C3A were updated from 12714505; 11369620 to 11369620; 12714505","entity_name":"NT5C3A","entity_type":"gene"},{"created":"2020-10-15T15:57:02.504610+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Homocystinuria-megaloblastic anemia, cbl E type, 236270; 236270 Homocystinuria-megaloblastic anemia, cbl E type for gene: MTRR\nPublications for gene MTRR were updated from 15714522; 12555939 to 12555939; 15714522","entity_name":"MTRR","entity_type":"gene"},{"created":"2020-10-15T15:57:02.447135+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; 250940 Homocystinuria-megaloblastic anemia, cblG complementation type for gene: MTR","entity_name":"MTR","entity_type":"gene"},{"created":"2020-10-15T15:57:02.384705+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Congenital dyserythropoietic anemia; Microcytic anemia; Majeed syndrome, 609628; 609628 Microcytic anemia; CDA; Majeed syndrome; 609628 Majeed syndrome for gene: LPIN2\nPublications for gene LPIN2 were updated from 15994876; 17330256 to 17330256; 15994876","entity_name":"LPIN2","entity_type":"gene"},{"created":"2020-10-15T15:57:02.313614+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 613673 Congenital dyserythropoietic anaemia type 4; Congenital Dyserythropoietic Anemia; 613673 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type IV, 613673; Dyserythropoietic anemia, congenital, type IV for gene: KLF1","entity_name":"KLF1","entity_type":"gene"},{"created":"2020-10-15T15:57:02.254451+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Enzyme Disorder; Anaemia, dyserythropoietic congenital, type III; Congenital dyserythropoietic anemia (CDA); Congenital dyserythropoietic anemia type III; 605064 Congenital dyserythropoietic anaemia type 3; CDA III for gene: KIF23","entity_name":"KIF23","entity_type":"gene"},{"created":"2020-10-15T15:57:02.192955+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hereditary Xerocytosis; 616689 Dehydrated hereditary stomatocytosis 2 for gene: KCNN4","entity_name":"KCNN4","entity_type":"gene"},{"created":"2020-10-15T15:57:02.133101+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes sideroblastic anaemia; 182170 Sideroblastic anaemia 4; 182170 sideroblastic anaemia type 4; Sideroblastic anaemia type 4, 182170 for gene: HSPA9","entity_name":"HSPA9","entity_type":"gene"},{"created":"2020-10-15T15:57:02.073032+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder for gene: HK1\nPublications for gene HK1 were updated from 12393545; 7655856 to 7655856; 12393545","entity_name":"HK1","entity_type":"gene"},{"created":"2020-10-15T15:57:02.015973+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Cyanosis, transient neonatal, 613977; 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1,141749 for gene: HBG2","entity_name":"HBG2","entity_type":"gene"},{"created":"2020-10-15T15:57:01.956293+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 141749 Globin Disorder; Globin Disorder; Fetal hemoglobin quantitative trait locus 1; 141749 Hereditary persistance of fetal haemoglobin; Fetal hemoglobin quantitative trait locus 1, 141749 for gene: HBG1","entity_name":"HBG1","entity_type":"gene"},{"created":"2020-10-15T15:57:01.892264+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Thalassemia due to Hb Lepore; Thalassemia,delta; Thalassemiadue to HbLepore; 141749 Delta-beta thalassaemia, thalassaemia due to Hb Lepore; Thalassemia, delta for gene: HBD","entity_name":"HBD","entity_type":"gene"},{"created":"2020-10-15T15:57:01.833595+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Sickle cell anemia (BIALLELIC, autosomal or pseudoautosomal),603903; Erythremias, beta-; 603902 Thalassemia-beta, dominant inclusion-body; 613985 Thalassemia, beta; Thalassemias, beta-,(BIALLELIC, autosomal or pseudoautosomal), 613985; 603902 Dominand inclusion body beta thalassaemia; 603903 Sickle cell disease; Hereditary persistence of fetal hemoglobin,(MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown),141749; 141749 Delta-beta thalassaemia; Heinz body anemias, beta- (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 140700; Globin Disorder; Thalassemia-beta, dominant inclusion-body, 603902; Delta-beta thalassemia (MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown), 141749; 613985 Beta thalassaemia; Methemoglobinemias, beta- for gene: HBB","entity_name":"HBB","entity_type":"gene"},{"created":"2020-10-15T15:57:01.776000+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hypochromic microcytic anemia; Hemoglobin H disease, nondeletional, 613978; Globin Disorder; 604131 Alpha thalassaemia; Erythrocytosis; 60413 Thalassemia, alpha; Heinz body anemia,140700; Thalassemia, alpha-, 604131 for gene: HBA2","entity_name":"HBA2","entity_type":"gene"},{"created":"2020-10-15T15:57:01.717803+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Thalassemias, alpha-, 604131; 604131 Thalassemias, alpha; Erythremias, alpha-; Heinz body anemias, alpha-, 140700; Globin Disorder; 604131 Alpha thalassaemia; Hemoglobin H disease, nondeletional, 613978; Methemoglobinemias, alpha- for gene: HBA1","entity_name":"HBA1","entity_type":"gene"},{"created":"2020-10-15T15:57:01.659503+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 231900 Enzyme Disorder; Hemolytic anemia due to glutathione synthetase deficiency, 231900; Enzyme Disorder; 266130 Glutathione synthetase deficiency; Glutathione synthetase deficiency, 266130; Hemolytic anemia due to glutathione synthetase deficiency for gene: GSS","entity_name":"GSS","entity_type":"gene"},{"created":"2020-10-15T15:57:01.600820+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Hemolytic anemia due to glutathione reductase deficiency; Enzyme Disorder; NA Enzyme Disorder for gene: GSR","entity_name":"GSR","entity_type":"gene"},{"created":"2020-10-15T15:57:01.542218+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 for gene: GPI","entity_name":"GPI","entity_type":"gene"},{"created":"2020-10-15T15:57:01.483159+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 616860 Pyridoxine refractory sideroblastic anaemia 3; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950; 205950 Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive for gene: GLRX5\nPublications for gene GLRX5 were updated from 25342667; 20364084; 17485548 to 20364084; 25342667; 17485548","entity_name":"GLRX5","entity_type":"gene"},{"created":"2020-10-15T15:57:01.420885+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 261000 Intrinsic factor deficiency for gene: GIF","entity_name":"GIF","entity_type":"gene"},{"created":"2020-10-15T15:57:01.364633+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 230450 Glutamate-cysteine ligase deficiency; Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, 230450; Enzyme Disorder; Glutamate-cysteine ligase deficiency; 230450 Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency for gene: GCLC","entity_name":"GCLC","entity_type":"gene"},{"created":"2020-10-15T15:57:01.298185+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367; 300367 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Myelodysplastic syndrome (MDS), Paediatric; Diamond-Blackfan anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835; 300835 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia; Diamond Blackfan Anaemia; 300367 Diamond Blackfan Anaemia; Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 for gene: GATA1\nPublications for gene GATA1 were updated from 22706301; 24766296; 30228860 to 30228860; 24766296; 22706301","entity_name":"GATA1","entity_type":"gene"},{"created":"2020-10-15T15:57:01.241312+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 300908 Hemolytic anemia, G6PD deficient (favism); Enzyme Disorder; 300908 Hemolytic anemia due to G6PD deficiency; Hemolytic anemia due to G6PD deficiency, 300908 for gene: G6PD","entity_name":"G6PD","entity_type":"gene"},{"created":"2020-10-15T15:57:01.173859+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Spherocytosis, type 5, 612690; 612690 Hereditary spherocytosis type 5; RBC membrane abnormality; Hereditary spherocytosis type 5; 612690 Spherocytosis, type 5; EPB42-related hereditary spherocytosis; Minkowski-Chauffard disease; Spherocytosis, Recessive; Elliptocytosis for gene: EPB42\nPublications for gene EPB42 were updated from 1558976; 7772513; 12176912 to 12176912; 7772513; 1558976","entity_name":"EPB42","entity_type":"gene"},{"created":"2020-10-15T15:57:01.116298+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Elliptocytosis-1,611804; RBC membrane abnormality; 611804 Hereditary elliptocytosis; 611804 Elliptocytosis-1; Elliptocytosis; Hereditary elliptocytosis for gene: EPB41","entity_name":"EPB41","entity_type":"gene"},{"created":"2020-10-15T15:57:01.055568+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; 613839 Megaloblastic anemia due to dihydrofolate reductase deficiency for gene: DHFR\nPublications for gene DHFR were updated from 21310276; 21310277 to 21310277; 21310276","entity_name":"DHFR","entity_type":"gene"},{"created":"2020-10-15T15:57:00.997059+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Methaemoglobinaemia; 250800 Methemoglobinemia; Methaemoglobinaemia type I and II, 250800; 250800 Methaemoglobinaemia type I and II for gene: CYB5R3","entity_name":"CYB5R3","entity_type":"gene"},{"created":"2020-10-15T15:57:00.935055+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Megaloblastic anemia-1, Finnish type, 261100; Megaloblastic Anemia; 261100 Megaloblastic anemia-1, Finnish type for gene: CUBN","entity_name":"CUBN","entity_type":"gene"},{"created":"2020-10-15T15:57:00.869995+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714; 612714 Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis; Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, andCalvarial Hyperostosis; 612714 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis; Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis for gene: COX4I2","entity_name":"COX4I2","entity_type":"gene"},{"created":"2020-10-15T15:57:00.810555+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 224120 Dyserythropoietic anemia, congenital, type Ia; 224120 Congenital dyserythropoietic anaemia type 1a; Dyserythropoietic anemia, congenital, type Ia, 224120 for gene: CDAN1","entity_name":"CDAN1","entity_type":"gene"},{"created":"2020-10-15T15:57:00.751553+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Dyskeratosis congenita, X-linked, 305000; 305000 Dyskeratosis congenita, X-linked for gene: CD59\nPublications for gene CD59 were updated from 23149847; 1382994; 24382084 to 1382994; 24382084; 23149847","entity_name":"CD59","entity_type":"gene"},{"created":"2020-10-15T15:57:00.694858+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 615631 Congenital dyserythropoietic anaemia type 1b; Congenital Dyserythropoietic Anemia; 615631 Congenital Dyserythropoietic Anemia; Dyserythropoietic anemia, congenital, type Ib, 615631; Dyserythropoietic anemia, congenital, type Ib for gene: C15orf41\nPublications for gene C15orf41 were updated from 29885034; 29031773; 23716552 to 29031773; 23716552; 29885034","entity_name":"C15orf41","entity_type":"gene"},{"created":"2020-10-15T15:57:00.634339+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Spherocytosis, type 1; Spherocytosis, type 1,182900; RBC membrane abnormality; 182900 Spherocytosis, type 1; 182900 RBC membrane abnormality for gene: ANK1\nPublications for gene ANK1 were updated from 9590147; 7883994; 11167760 to 7883994; 9590147; 11167760","entity_name":"ANK1","entity_type":"gene"},{"created":"2020-10-15T15:57:00.574891+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 261100 Megaloblastic anemia-1, Norwegian type; Megaloblastic anemia-1, Norwegian type, 261100 for gene: AMN","entity_name":"AMN","entity_type":"gene"},{"created":"2020-10-15T15:57:00.513282+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Enzyme Disorder; 611881 Aldolase A deficiency; Aldolase A deficiency; Glycogen storage disease; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency for gene: ALDOA\nPublications for gene ALDOA were updated from 7331996; 8598869 to 8598869; 7331996","entity_name":"ALDOA","entity_type":"gene"},{"created":"2020-10-15T15:57:00.452238+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Anemia, sideroblastic, 1 300751; Anemia, sideroblastic, 1, 300751; 300751 Sideroblastic anaemia 1; 300751 Anemia, sideroblastic, 1 for gene: ALAS2","entity_name":"ALAS2","entity_type":"gene"},{"created":"2020-10-15T15:57:00.393109+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 612631 Hemolytic anemia due to adenylate kinase deficiency; Hemolytic anemia due to adenylate kinase deficiency, 612631 for gene: AK1","entity_name":"AK1","entity_type":"gene"},{"created":"2020-10-15T15:57:00.330957+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes Diamond Blackfan anaemia for gene: ADA2","entity_name":"ADA2","entity_type":"gene"},{"created":"2020-10-15T15:57:00.270635+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 210250 sitosterolaemia; sitosterolaemia for gene: ABCG8","entity_name":"ABCG8","entity_type":"gene"},{"created":"2020-10-15T15:57:00.199739+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 210250 sitosterolaemia; sitosterolaemia for gene: ABCG5","entity_name":"ABCG5","entity_type":"gene"},{"created":"2020-10-15T15:57:00.128735+11:00","panel_name":"Rare anaemia_GEL","panel_id":3366,"panel_version":"0.1","user_name":"Zornitza Stark","item_type":"entity","text":"Added phenotypes 301310 Sideroblastic anaemia; Anemia, sideroblastic, with ataxia; Anemia, sideroblastic, with ataxia, 301310; 301310 Sideroblastic Anemia and Ataxia; Sideroblastic Anemia and Ataxia for gene: ABCB7\nPublications for gene ABCB7 were updated from 11050011; 11843825; 4045952 to 11843825; 4045952; 11050011","entity_name":"ABCB7","entity_type":"gene"},{"created":"2020-10-15T14:52:43.352003+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4917","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: TRAPPC9: Added comment: PMID: 29187737 - multiple intragenic CNVs reported for this gene; Changed publications: PMID: 29187737","entity_name":"TRAPPC9","entity_type":"gene"},{"created":"2020-10-15T13:57:49.938981+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRNT1 as ready","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-10-15T13:57:49.930633+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trnt1 has been classified as Green List (High Evidence).","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-10-15T13:57:47.315936+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRNT1 were changed from Retinitis pigmentosa and erythrocytic microcytosis to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-10-15T13:57:34.694784+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRNT1 were set to ","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-10-15T13:57:18.114532+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26494905, 28390992, 27389523; Phenotypes: Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959, Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRNT1","entity_type":"gene"},{"created":"2020-10-15T13:43:54.980141+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TREX1 as ready","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T13:43:54.971545+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trex1 has been classified as Green List (High Evidence).","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T13:43:52.324877+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TREX1 were changed from  to Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T13:43:41.741548+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TREX1 were set to ","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T13:43:32.161971+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TREX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T13:43:20.152292+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17660820; Phenotypes: Vasculopathy, retinal, with cerebral leukodystrophy, MIM# 192315; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-10-15T12:59:34.839963+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GPC6 as ready","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:59:34.828928+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gpc6 has been classified as Green List (High Evidence).","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:57:17.750529+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GPC6 were changed from Omodysplasia 1 258315 to Omodysplasia 1 MIM#258315","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:56:32.635444+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPC6 were set to ","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:56:02.800216+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: GPC6.","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:55:54.195922+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:54:34.885869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4917","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GPC6 were set to 19481194","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T12:41:39.442862+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.172","user_name":"Tiong Tan","item_type":"panel","text":"Panel name changed from Disorders of Sex Differentiation to Differences of Sex Development","entity_name":null,"entity_type":null},{"created":"2020-10-15T11:31:12.939969+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:31:12.931449+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Green List (High Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:31:08.092182+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from  to Joubert syndrome 2, MIM# 608091","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:30:59.198879+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM216 were set to ","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:30:48.981736+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:30:39.245787+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: None; Publications: 32687549, 20512146; Phenotypes: Joubert syndrome 2, MIM# 608091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-10-15T11:18:41.968264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4916","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: GPC6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 19481194, 32655339; Phenotypes: Omodysplasia 1 MIM#258315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GPC6","entity_type":"gene"},{"created":"2020-10-15T10:27:39.987624+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD81: Changed rating: RED","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T10:03:11.007058+11:00","panel_name":"Brain Channelopathies","panel_id":74,"panel_version":"0.28","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-15T09:57:43.371575+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD81 as ready","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T09:57:43.362209+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd81 has been classified as Red List (Low Evidence).","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T09:57:32.565790+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CD81 were set to ","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T09:57:19.719933+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD81 as Red List (low evidence)","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T09:57:19.712076+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd81 has been classified as Red List (Low Evidence).","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T09:56:43.673978+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: CD81: Discussed with Edwin Kirk, downgrade to RED for MM panel.","entity_name":"CD81","entity_type":"gene"},{"created":"2020-10-15T08:59:32.714546+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ERBB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 17701904, 31752936; Phenotypes: Lethal congenital contractural syndrome 2, MIM# 607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ERBB3","entity_type":"gene"},{"created":"2020-10-15T08:55:38.381177+11:00","panel_name":"Renal Tubulointerstitial Disease","panel_id":199,"panel_version":"0.26","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; KidGen; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-15T08:25:18.351743+11:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CD81: Rating: AMBER; Mode of pathogenicity: None; Publications: 20237408; Phenotypes: Immunodeficiency, common variable, 6, MIM# 613496; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CD81","entity_type":"gene"}]}