{"count":220842,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1611","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1609","results":[{"created":"2020-09-03T17:49:40.062383+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.419","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnu4atac has been classified as Green List (High Evidence).","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2020-09-03T17:49:13.525029+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.418","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RNU4ATAC was added\ngene: RNU4ATAC was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: RNU4ATAC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU4ATAC were set to 21474760; 20301772\nPhenotypes for gene: RNU4ATAC were set to Microcephalic osteodysplastic primordial dwarfism, type I,   MIM# 210710\nReview for gene: RNU4ATAC was set to GREEN\nAdded comment: Established gene-disease association \nSources: Expert list","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2020-09-03T17:19:32.433204+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFT122 as ready","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T17:19:32.422526+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ift122 has been classified as Green List (High Evidence).","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T17:19:25.749715+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IFT122 were changed from  to Cranioectodermal dysplasia 1, MIM# MIM#218330","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T17:19:08.468528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IFT122 were set to ","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T17:18:50.629966+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IFT122 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T17:18:33.060231+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IFT122: Rating: GREEN; Mode of pathogenicity: None; Publications: 26792575, 28370949, 29037998; Phenotypes: Cranioectodermal dysplasia 1, MIM# MIM#218330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IFT122","entity_type":"gene"},{"created":"2020-09-03T16:37:57.298344+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAK1 were changed from Susceptibility to mycobacteria and viruses to Susceptibility to mycobacteria and viruses; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-09-03T16:37:32.214107+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JAK1: Changed phenotypes: Susceptibility to mycobacteria and viruses, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-09-03T16:37:13.683955+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: JAK1 were changed from Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections to Eosinophilia; Eosinophilic enteritis; Thyroid disease; Poor growth; Viral infections; Viral infections; Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-09-03T16:36:34.146205+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JAK1: Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-09-03T16:36:01.164406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4181","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JAK1: Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses, Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-09-03T16:34:09.989021+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998","entity_name":"RC3H1","entity_type":"gene"},{"created":"2020-09-03T16:33:47.455132+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4180","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6, MIM# 618998","entity_name":"RC3H1","entity_type":"gene"},{"created":"2020-09-03T16:32:37.098060+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RC3H1 were changed from Relapsing HLH to Relapsing HLH; Hemophagocytic lymphohistiocytosis, familial, 6, MIM#\t618998","entity_name":"RC3H1","entity_type":"gene"},{"created":"2020-09-03T16:32:03.342035+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RC3H1: Changed phenotypes: Relapsing HLH, Hemophagocytic lymphohistiocytosis, familial, 6 618998","entity_name":"RC3H1","entity_type":"gene"},{"created":"2020-09-03T16:16:03.004066+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIAA0319 as ready","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:16:02.994234+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0319 has been classified as Red List (Low Evidence).","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:15:56.124138+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIAA0319 were changed from  to {Dyslexia, susceptibility to, 2}, MIM#600202","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:15:30.282602+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4179","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIAA0319 as Red List (low evidence)","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:15:30.271964+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4179","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kiaa0319 has been classified as Red List (Low Evidence).","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:13:01.941481+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RARS2 as ready","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:13:01.930632+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rars2 has been classified as Green List (High Evidence).","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:12:55.709637+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4178","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RARS2 were changed from Pontocerebellar hypoplasia, type 6, MIM# 611523 to Pontocerebellar hypoplasia, type 6, MIM# 611523; early onset cerebellar ataxia","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:12:38.318062+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4177","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RARS2 were set to 17847012; 25809939; 20635367","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:12:19.956795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4176","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RARS2 were changed from  to Pontocerebellar hypoplasia, type 6, MIM# 611523","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:12:01.906208+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4175","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RARS2 were set to ","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:11:40.405102+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4174","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:11:07.646608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4173","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RARS2: Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:09:52.375749+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RARS2 as ready","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:09:52.363846+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rars2 has been classified as Green List (High Evidence).","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:09:49.974232+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RARS2 were changed from  to Pontocerebellar hypoplasia, type 6, MIM# 611523","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:09:25.045443+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RARS2 were set to ","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:09:02.870276+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.415","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:08:38.653988+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2020-09-03T16:05:50.735657+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAD21 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T16:04:10.179952+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4172","user_name":"Naomi Baker","item_type":"entity","text":"reviewed gene: KIAA0319: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: {Dyslexia, susceptibility to, 2}, MIM#600202; Mode of inheritance: None","entity_name":"KIAA0319","entity_type":"gene"},{"created":"2020-09-03T16:01:20.208604+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD21 as ready","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T16:01:20.197669+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T16:00:46.232445+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAD21 as Green List (high evidence)","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T16:00:46.223680+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad21 has been classified as Green List (High Evidence).","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T16:00:23.725576+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.413","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD21 was added\ngene: RAD21 was added to Microcephaly. Sources: Expert list\nMode of inheritance for gene: RAD21 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD21 were set to 22633399; 32193685\nPhenotypes for gene: RAD21 were set to Cornelia de Lange syndrome 4, MIM#\t614701\nReview for gene: RAD21 was set to GREEN\nAdded comment: Microcephaly reported in around 50% of affected individuals in a recent large series. \nSources: Expert list","entity_name":"RAD21","entity_type":"gene"},{"created":"2020-09-03T15:51:06.765528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4172","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB3GAP2 as ready","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:51:06.755559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4172","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab3gap2 has been classified as Green List (High Evidence).","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:50:59.618295+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4172","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP2 were changed from  to Warburg micro syndrome 2, MIM# 614225","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:50:43.005997+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP2 were set to ","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:50:26.785502+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4170","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:50:11.815210+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.412","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP2 were changed from  to Warburg micro syndrome 2, MIM# 614225","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:50:07.834979+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4169","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:49:26.137870+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.411","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP2 were set to ","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:49:04.766074+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.410","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:48:38.284041+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 20967465; Phenotypes: Warburg micro syndrome 2, MIM# 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP2","entity_type":"gene"},{"created":"2020-09-03T15:46:25.936014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4169","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB3GAP1 as ready","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:46:25.924968+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4169","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab3gap1 has been classified as Green List (High Evidence).","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:46:17.046893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4169","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from  to Warburg micro syndrome 1, MIM# 600118","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:46:04.988297+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4168","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to ","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:45:48.234363+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4167","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:45:28.144332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:45:11.322440+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB3GAP1 as ready","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:45:11.311679+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab3gap1 has been classified as Green List (High Evidence).","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:44:04.884488+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.409","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB3GAP1 were changed from  to Warburg micro syndrome 1, MIM# 600118","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:43:44.082587+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.408","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB3GAP1 were set to ","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:43:20.708982+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.407","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB3GAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:42:44.007618+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB3GAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15696165, 20512159, 23420520; Phenotypes: Warburg micro syndrome 1, MIM# 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB3GAP1","entity_type":"gene"},{"created":"2020-09-03T15:40:32.915337+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RAB18.","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:40:13.459526+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB18 as ready","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:40:13.446017+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab18 has been classified as Green List (High Evidence).","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:40:11.011563+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB18 were changed from  to Warburg micro syndrome 3, MIM# 614222","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:39:44.137152+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.229","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB18 were set to ","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:39:21.717391+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:38:52.344888+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:38:04.551810+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RAB18.","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:37:46.812486+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB18 as ready","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:37:46.803430+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab18 has been classified as Green List (High Evidence).","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:37:44.076542+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB18 were changed from  to Warburg micro syndrome 3, MIM# 614222","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:37:18.614957+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB18 were set to ","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:36:57.095950+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:36:28.677731+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:35:45.981857+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RAB18.","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:35:14.885550+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB18 as ready","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:35:14.873704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab18 has been classified as Green List (High Evidence).","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:35:08.089833+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB18 were changed from  to Warburg micro syndrome 3, MIM# 614222","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:34:51.027185+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB18 were set to ","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:34:35.609668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4164","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:34:20.419497+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4163","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:33:26.324372+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB18 as ready","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:33:26.311838+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab18 has been classified as Green List (High Evidence).","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:33:24.210159+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.406","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB18 were changed from  to Warburg micro syndrome 3, MIM# 614222","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:33:21.548734+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: RAB18.","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:32:57.135891+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.405","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB18 were set to ","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:32:40.236969+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.404","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T15:32:15.171558+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: None; Publications: 11237903, 23420520; Phenotypes: Warburg micro syndrome 3, MIM# 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB18","entity_type":"gene"},{"created":"2020-09-03T13:57:09.947406+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PTPN23 was added\ngene: PTPN23 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list\nMode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTPN23 were set to 31395947; 29899372; 29090338; 27848944; 25558065\nPhenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, MIM# 618890\nReview for gene: PTPN23 was set to GREEN\nAdded comment: Over 10 families reported with an autosomal recessive neurologic disorder characterised by global developmental delay apparent from early infancy, poor overall growth often with microcephaly (6/10), impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Additional common but variable features include early-onset seizures, optic atrophy with poor visual fixation, and dysmorphic facial features. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume, and often hypoplasia of the corpus callosum and/or cerebellum. \nSources: Expert list","entity_name":"PTPN23","entity_type":"gene"},{"created":"2020-09-03T13:55:41.697372+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PUS7 was added\ngene: PUS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Expert list\nMode of inheritance for gene: PUS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PUS7 were set to 30526862; 30778726; 31583274\nPhenotypes for gene: PUS7 were set to Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature; OMIM #618342\nReview for gene: PUS7 was set to GREEN\nAdded comment: 11 individuals from 6 families with ID, speech delay, short stature, microcephaly, and aggressive behavior, with homozygous PUS7 mutations, which segregated with disease. \nSources: Expert list","entity_name":"PUS7","entity_type":"gene"},{"created":"2020-09-03T13:31:01.129246+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PUS7: Changed rating: GREEN","entity_name":"PUS7","entity_type":"gene"},{"created":"2020-09-03T13:30:31.284197+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUF60 as ready","entity_name":"PUF60","entity_type":"gene"},{"created":"2020-09-03T13:30:31.274895+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: puf60 has been classified as Green List (High Evidence).","entity_name":"PUF60","entity_type":"gene"},{"created":"2020-09-03T13:30:20.954690+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.403","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUF60 were changed from  to Verheij syndrome, MIM# 615583","entity_name":"PUF60","entity_type":"gene"},{"created":"2020-09-03T13:29:57.898974+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.402","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PUF60 were set to ","entity_name":"PUF60","entity_type":"gene"}]}