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{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1540",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}