{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1876","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1874","results":[{"created":"2020-04-09T11:39:12.170748+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BLOC1S6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-04-09T11:38:44.106429+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BLOC1S6 as Red List (low evidence)","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-04-09T11:38:44.097482+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bloc1s6 has been classified as Red List (Low Evidence).","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-04-09T11:38:14.780061+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BLOC1S6: Rating: RED; Mode of pathogenicity: None; Publications: 22461475, 21665000; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BLOC1S6","entity_type":"gene"},{"created":"2020-04-09T11:26:10.901282+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:25:04.797805+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BCL10 as ready","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:25:04.788608+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bcl10 has been classified as Green List (High Evidence).","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:24:55.893580+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BCL10 were changed from  to Immunodeficiency 37, MIM# 616098","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:24:23.096652+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BCL10 were set to ","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:23:59.663478+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BCL10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:23:00.959277+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BCL10: Rating: GREEN; Mode of pathogenicity: None; Publications: 25365219, 32008135, 11163238, 12910267; Phenotypes: Immunodeficiency 37, MIM# 616098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCL10","entity_type":"gene"},{"created":"2020-04-09T11:20:24.446478+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.11","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 27640307, 28652416; Phenotypes: Harel-Yoon syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ATAD3A","entity_type":"gene"},{"created":"2020-04-09T11:10:05.463055+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2043","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:09:48.131227+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2042","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APOL1 were changed from  to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:09:33.077070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2041","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: APOL1 were set to ","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:09:13.187286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOL1 as Red List (low evidence)","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:09:13.173924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apol1 has been classified as Red List (Low Evidence).","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:08:52.740203+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556, 20647424, 24206458, 20635188; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:02:02.461220+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: APOL1 as ready","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:02:02.452734+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apol1 has been classified as Red List (Low Evidence).","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:01:55.722210+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: APOL1 were changed from  to {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T11:00:31.681879+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.11","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27889060; Phenotypes: Early-onset epileptic encephalopathy with optic atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AP3B2","entity_type":"gene"},{"created":"2020-04-09T10:54:49.024332+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: APOL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T10:54:21.828084+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: APOL1 as Red List (low evidence)","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T10:54:21.814810+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: apol1 has been classified as Red List (Low Evidence).","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T10:53:50.102980+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: APOL1: Rating: RED; Mode of pathogenicity: None; Publications: 29470556; Phenotypes: {Glomerulosclerosis, focal segmental, 4, susceptibility to} 612551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"APOL1","entity_type":"gene"},{"created":"2020-04-09T10:50:36.328144+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S3 as ready","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:50:36.314990+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s3 has been classified as Amber List (Moderate Evidence).","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:50:21.568928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2039","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP1S3 were changed from  to {Psoriasis 15, pustular, susceptibility to} 616106","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:50:07.624916+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2038","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP1S3 were set to ","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:49:46.153133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2037","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:49:27.302892+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2036","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1S3 as Amber List (moderate evidence)","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:49:27.293715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2036","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s3 has been classified as Amber List (Moderate Evidence).","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:49:06.305740+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2035","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:48:17.053245+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S3 as ready","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:48:17.044406+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s3 has been classified as Amber List (Moderate Evidence).","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:48:10.467604+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AP1S3 were changed from  to {Psoriasis 15, pustular, susceptibility to} 616106","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:47:48.999449+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP1S3 were set to 24791904; 27388993","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:47:27.863594+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP1S3 were set to ","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:47:03.492232+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AP1S3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:46:39.449477+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP1S3 as Amber List (moderate evidence)","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:46:39.436754+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s3 has been classified as Amber List (Moderate Evidence).","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:46:11.017865+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AP1S3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24791904, 27388993; Phenotypes: {Psoriasis 15, pustular, susceptibility to} 616106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AP1S3","entity_type":"gene"},{"created":"2020-04-09T10:37:57.318781+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAM17 as ready","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:37:57.309935+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adam17 has been classified as Green List (High Evidence).","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:37:54.512571+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADAM17 as Green List (high evidence)","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:37:54.498887+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adam17 has been classified as Green List (High Evidence).","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:37:25.823971+10:00","panel_name":"Inflammatory bowel disease","panel_id":123,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADAM17 was added\ngene: ADAM17 was added to Inflammatory bowel disease. Sources: Expert Review\nMode of inheritance for gene: ADAM17 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM17 were set to 22010916; 29560122; 26683521; 25804906\nPhenotypes for gene: ADAM17 were set to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections\nReview for gene: ADAM17 was set to GREEN\nAdded comment: Three unrelated families reported, inflammatory bowel disease was prominent in two; support from mouse model. \nSources: Expert Review","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:29:37.110444+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAM17 as ready","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:29:37.101595+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adam17 has been classified as Green List (High Evidence).","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:28:28.334169+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAM17 were changed from  to Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328; Recurrent infections","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:27:46.462182+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ADAM17 were set to ","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:27:20.484604+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ADAM17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:26:49.226765+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ADAM17: Rating: GREEN; Mode of pathogenicity: None; Publications: 22010916, 29560122, 26683521, 25804906; Phenotypes: Inflammatory skin and bowel disease, neonatal, 1, MIM# 614328, Recurrent infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ADAM17","entity_type":"gene"},{"created":"2020-04-09T10:13:35.994853+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACTB as ready","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:13:35.978392+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Amber List (Moderate Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:13:32.876817+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACTB were changed from  to Baraitser-Winter syndrome 1, MIM# 243310","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:13:08.310522+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:12:10.647506+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACTB as Amber List (moderate evidence)","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:12:10.637436+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: actb has been classified as Amber List (Moderate Evidence).","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-09T10:11:38.968522+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Baraitser-Winter syndrome 1, MIM# 243310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-04-08T13:30:47.585738+10:00","panel_name":"Familial hypercholesterolaemia","panel_id":333,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-08T08:27:34.671886+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.7","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Hereditary Spastic Paraplegia - paediatric_RMH to Hereditary Spastic Paraplegia - paediatric\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-08T08:25:17.826601+10:00","panel_name":"Visceral Myopathy","panel_id":3087,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Visceral Myopathy_RMH to Visceral Myopathy\nPanel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-08T08:10:49.484837+10:00","panel_name":"Congenital Stationary Night Blindness","panel_id":283,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel name changed from Congenital Stationary Night Blindness_RMH to Congenital Stationary Night Blindness","entity_name":null,"entity_type":null},{"created":"2020-04-07T20:50:32.592705+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TMEM70 as ready","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-04-07T20:50:32.579223+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem70 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-04-07T20:50:22.757713+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TMEM70 as Amber List (moderate evidence)","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-04-07T20:50:22.749256+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.107","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tmem70 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-04-07T20:49:51.096977+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.106","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TMEM70 was added\ngene: TMEM70 was added to Cataract. Sources: Expert list\nMode of inheritance for gene: TMEM70 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM70 were set to 21147908; 23235116; 27454254\nPhenotypes for gene: TMEM70 were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 MIM#614052\nReview for gene: TMEM70 was set to AMBER\nAdded comment: Four cases from three unrelated consanguineous families with two different variants, with cataracts as a feature of the condition. \nSources: Expert list","entity_name":"TMEM70","entity_type":"gene"},{"created":"2020-04-07T20:43:35.550193+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CFTR as ready","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-07T20:43:35.537113+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-07T20:43:32.452463+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFTR as Green List (high evidence)","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-07T20:43:32.443678+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cftr has been classified as Green List (High Evidence).","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-07T20:43:02.760115+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CFTR was added\ngene: CFTR was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, MIM#\t219700\nReview for gene: CFTR was set to GREEN\nAdded comment: Although CF is mostly detected through newborn screening, some adults with milder phenotypes can present with recurrent respiratory infections. \nSources: Expert list","entity_name":"CFTR","entity_type":"gene"},{"created":"2020-04-07T20:30:14.124394+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.58","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":"2020-04-07T20:26:57.783275+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TTC37 as ready","entity_name":"TTC37","entity_type":"gene"},{"created":"2020-04-07T20:26:57.770108+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttc37 has been classified as Red List (Low Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2020-04-07T20:26:51.536281+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TTC37 as Red List (low evidence)","entity_name":"TTC37","entity_type":"gene"},{"created":"2020-04-07T20:26:51.522174+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.105","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ttc37 has been classified as Red List (Low Evidence).","entity_name":"TTC37","entity_type":"gene"},{"created":"2020-04-07T20:26:22.051291+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: TTC37: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Trichohepatoenteric syndrome 1 MIM#222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2020-04-07T20:25:46.466547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2035","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNT2 were changed from Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy to Epileptic encephalopathy, early infantile, 57, MIM#617771; Developmental and epileptic encephalopathy; Epilepsy of infancy with migrating focal seizures (EIMFS)","entity_name":"KCNT2","entity_type":"gene"},{"created":"2020-04-07T20:25:22.375309+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2034","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNT2 were set to 29069600; 29740868","entity_name":"KCNT2","entity_type":"gene"},{"created":"2020-04-07T20:24:16.425729+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USH2A as ready","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-04-07T20:24:16.417428+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ush2a has been classified as Green List (High Evidence).","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-04-07T20:24:05.194645+10:00","panel_name":"Usher Syndrome","panel_id":3086,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USH2A were set to ","entity_name":"USH2A","entity_type":"gene"},{"created":"2020-04-07T20:18:30.835199+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: WAS as ready","entity_name":"WAS","entity_type":"gene"},{"created":"2020-04-07T20:18:30.825878+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: was has been classified as Red List (Low Evidence).","entity_name":"WAS","entity_type":"gene"},{"created":"2020-04-07T20:18:19.496757+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: WAS as Red List (low evidence)","entity_name":"WAS","entity_type":"gene"},{"created":"2020-04-07T20:18:19.488185+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.104","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: was has been classified as Red List (Low Evidence).","entity_name":"WAS","entity_type":"gene"},{"created":"2020-04-07T20:17:50.179286+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: WAS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Wiskott-Aldrich syndrome MIM#301000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"WAS","entity_type":"gene"},{"created":"2020-04-07T19:59:09.487597+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: XIAP as ready","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-07T19:59:09.478763+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xiap has been classified as Red List (Low Evidence).","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-07T19:59:05.511724+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: XIAP as Red List (low evidence)","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-07T19:59:05.498699+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.103","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: xiap has been classified as Red List (Low Evidence).","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-07T19:58:34.496854+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: XIAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Lymphoproliferative syndrome, X-linked, 2 MIM#300635; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"XIAP","entity_type":"gene"},{"created":"2020-04-07T19:54:40.592922+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: ZAP70 as ready","entity_name":"ZAP70","entity_type":"gene"},{"created":"2020-04-07T19:54:40.584006+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: zap70 has been classified as Red List (Low Evidence).","entity_name":"ZAP70","entity_type":"gene"},{"created":"2020-04-07T19:54:29.535830+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ZAP70 as Red List (low evidence)","entity_name":"ZAP70","entity_type":"gene"},{"created":"2020-04-07T19:54:29.521883+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.102","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: zap70 has been classified as Red List (Low Evidence).","entity_name":"ZAP70","entity_type":"gene"}]}