{"count":220918,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=712","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=710","results":[{"created":"2022-10-15T19:01:49.604036+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PYCR1 were set to ","entity_name":"PYCR1","entity_type":"gene"},{"created":"2022-10-15T19:01:36.368643+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTDSS1 as ready","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-10-15T19:01:36.354747+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ptdss1 has been classified as Green List (High Evidence).","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-10-15T19:01:33.100155+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PTDSS1 were set to ","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-10-15T19:01:25.577122+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PTDSS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PTDSS1","entity_type":"gene"},{"created":"2022-10-15T19:01:14.676908+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LTBP4 as ready","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-15T19:01:14.664622+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ltbp4 has been classified as Green List (High Evidence).","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-15T19:01:09.622963+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LTBP4 were set to ","entity_name":"LTBP4","entity_type":"gene"},{"created":"2022-10-15T19:00:24.835037+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GORAB as ready","entity_name":"GORAB","entity_type":"gene"},{"created":"2022-10-15T19:00:24.825615+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gorab has been classified as Green List (High Evidence).","entity_name":"GORAB","entity_type":"gene"},{"created":"2022-10-15T19:00:21.641469+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GORAB were set to ","entity_name":"GORAB","entity_type":"gene"},{"created":"2022-10-15T18:59:50.371027+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ELN as ready","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-15T18:59:50.346788+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eln has been classified as Green List (High Evidence).","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-15T18:59:42.968122+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ELN were set to ","entity_name":"ELN","entity_type":"gene"},{"created":"2022-10-15T18:59:26.583980+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-10-15T18:59:12.691494+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EFEMP2 as ready","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2022-10-15T18:59:12.683676+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: efemp2 has been classified as Green List (High Evidence).","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2022-10-15T18:59:10.110114+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EFEMP2 were set to ","entity_name":"EFEMP2","entity_type":"gene"},{"created":"2022-10-15T18:58:51.128311+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP7A as ready","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-10-15T18:58:51.119706+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp7a has been classified as Green List (High Evidence).","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-10-15T18:58:49.266998+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ATP7A were changed from Occipital horn syndrome MIM#304150 to Occipital horn syndrome, MIM#304150; Menkes disease, MIM#309400","entity_name":"ATP7A","entity_type":"gene"},{"created":"2022-10-15T18:58:22.828202+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATP6V0A2 as ready","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2022-10-15T18:58:22.816180+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp6v0a2 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2022-10-15T18:58:20.010509+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATP6V0A2 were set to ","entity_name":"ATP6V0A2","entity_type":"gene"},{"created":"2022-10-15T18:57:56.135065+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-10-15T18:57:56.125395+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-10-15T18:57:53.413779+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH18A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-10-15T18:57:44.856643+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from Cutis laxa, autosomal recessive, type IIIA MIM#219150 to Cutis laxa, autosomal dominant 3 (MIM# 616603); Cutis laxa, autosomal recessive, type IIIA (MIM# 219150)","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-10-15T18:57:34.908118+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH18A1 were set to ","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2022-10-15T18:57:12.922742+11:00","panel_name":"Cutis Laxa","panel_id":3129,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Cutis laxa HP:0000973","entity_name":null,"entity_type":null},{"created":"2022-10-15T18:56:31.971263+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.41","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Craniosynostosis HP:0001363","entity_name":null,"entity_type":null},{"created":"2022-10-15T18:54:48.064773+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RORC as ready","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:54:48.046063+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rorc has been classified as Green List (High Evidence).","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:54:45.355483+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RORC were changed from  to Immunodeficiency 42, MIM# 616622","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:54:19.310386+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RORC were set to ","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:53:54.752311+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RORC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:53:14.158615+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RORC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26160376; Phenotypes: Immunodeficiency 42, MIM# 616622; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RORC","entity_type":"gene"},{"created":"2022-10-15T18:49:21.907598+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSEN1 as ready","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-10-15T18:49:21.896980+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2022-10-15T18:48:18.619630+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYBB as ready","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-10-15T18:48:18.609834+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cybb has been classified as Green List (High Evidence).","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-10-15T18:48:15.281505+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CYBB were changed from  to Chronic granulomatous disease, X-linked, MIM# 306400","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-10-15T18:47:09.354606+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CYBB were set to ","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-10-15T18:46:35.892007+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"CYBB","entity_type":"gene"},{"created":"2022-10-15T18:45:53.229852+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CXCR4 as ready","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-10-15T18:45:53.221655+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cxcr4 has been classified as Green List (High Evidence).","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-10-15T18:45:49.121741+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.120","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CXCR4 were changed from  to WHIM syndrome 1, MIM# 193670","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-10-15T18:45:17.905931+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.119","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CXCR4 were set to ","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-10-15T18:44:42.950408+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.118","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CXCR4","entity_type":"gene"},{"created":"2022-10-15T18:43:27.630536+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CABP4 as ready","entity_name":"CABP4","entity_type":"gene"},{"created":"2022-10-15T18:43:27.622255+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cabp4 has been classified as Green List (High Evidence).","entity_name":"CABP4","entity_type":"gene"},{"created":"2022-10-15T18:43:20.353366+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CABP4 were set to ","entity_name":"CABP4","entity_type":"gene"},{"created":"2022-10-15T18:43:04.035316+11:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16960802, 19074807, 20157620, 33369259; Phenotypes: Cone-rod synaptic disorder, congenital nonprogressive, MIM# 610427; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CABP4","entity_type":"gene"},{"created":"2022-10-15T18:09:23.928432+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFB as ready","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:09:23.918896+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfb has been classified as Green List (High Evidence).","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:09:19.812164+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFB were changed from  to Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:08:44.716510+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFB were set to ","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:07:56.596948+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CFB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:07:30.309950+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: None; Publications: 33725982, 33273796, 33126970, 31242818; Phenotypes: Hemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CFB","entity_type":"gene"},{"created":"2022-10-15T18:05:18.934842+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C3 as ready","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T18:05:18.925486+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c3 has been classified as Green List (High Evidence).","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T18:05:16.359963+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C3 were changed from  to {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T18:04:39.662496+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C3 were set to ","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T18:04:14.526518+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T18:03:40.098461+11:00","panel_name":"Atypical Haemolytic Uraemic Syndrome_MPGN","panel_id":211,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 18796626, 34248927, 33691638; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C3","entity_type":"gene"},{"created":"2022-10-15T17:59:29.583051+11:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Lissencephaly HP:0001339;Subcortical band heterotopia HP:0032409","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:57:48.806724+11:00","panel_name":"Hyperthyroidism","panel_id":3372,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Hyperthyroidism HP:0000836","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:57:02.037891+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.213","user_name":"Zornitza Stark","item_type":"panel","text":"List of related panels changed from  to Proteinuria HP:0000093","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:55:11.666165+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2022-10-15T17:54:41.887534+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRNT1 as ready","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:54:41.877813+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.190","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":"2022-10-15T17:54:36.401350+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRNT1 were changed from  to Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:54:04.517324+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRNT1 were set to ","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:53:33.981502+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:52:59.837168+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: TRNT1: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.\r\n\r\n> 10 families reported.","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:52:49.851832+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRNT1: Changed publications: 25193871, 23553769, 29170023, 27389523","entity_name":"TRNT1","entity_type":"gene"},{"created":"2022-10-15T17:52:16.989259+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRNT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sideroblastic anaemia 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":"2022-10-15T17:51:41.695244+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC29A3 as ready","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:51:41.682400+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc29a3 has been classified as Green List (High Evidence).","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:51:39.247567+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC29A3 were changed from  to Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:51:07.914271+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC29A3 were set to ","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:50:42.520409+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC29A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:50:10.051853+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC29A3: Changed publications: 18940313, 19336477, 22238637","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:49:50.359211+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SLC29A3: The histiocytosis-lymphadenopathy plus syndrome comprises features of 4 histiocytic disorders previously thought to be distinct: Faisalabad histiocytosis (FHC), sinus histiocytosis with massive lymphadenopathy (SHML), H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome (PHID). \r\n\r\nMultiple families reported.","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:49:23.976918+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC29A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Histiocytosis-lymphadenopathy plus syndrome, MIM# 602782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC29A3","entity_type":"gene"},{"created":"2022-10-15T17:48:49.089114+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLCG2 as ready","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:48:49.069273+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcg2 has been classified as Green List (High Evidence).","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:48:44.940841+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLCG2 were changed from  to Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:48:21.443889+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCG2 were set to ","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:47:49.931022+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLCG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:47:17.610605+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PLCG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31853824, 32671674, 22236196; Phenotypes: Autoinflammation, antibody deficiency, and immune dysregulation syndrome MIM#614878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PLCG2","entity_type":"gene"},{"created":"2022-10-15T17:45:59.700460+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NLRP3 as ready","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:45:59.686108+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nlrp3 has been classified as Green List (High Evidence).","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:45:57.040687+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NLRP3 were changed from  to Familial cold inflammatory syndrome 1, MIM# 120100; Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772; CINCA syndrome, MIM#12032915 607115","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:45:31.745805+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NLRP3 were set to ","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:44:53.522624+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NLRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:44:26.760912+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 12032915, 12483741, 28847925, 11687797; Phenotypes: Familial cold inflammatory syndrome 1, MIM# 120100, Deafness, autosomal dominant 34, with or without inflammation, MIM# 617772, CINCA syndrome, MIM#12032915 607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NLRP3","entity_type":"gene"},{"created":"2022-10-15T17:41:22.349192+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL36RN as ready","entity_name":"IL36RN","entity_type":"gene"},{"created":"2022-10-15T17:41:22.338217+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il36rn has been classified as Green List (High Evidence).","entity_name":"IL36RN","entity_type":"gene"},{"created":"2022-10-15T17:41:19.624562+11:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL36RN were changed from  to Psoriasis 14, pustular, MIM# 614204","entity_name":"IL36RN","entity_type":"gene"}]}