{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1882","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1880","results":[{"created":"2020-04-05T17:51:34.775955+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFNAR2 was added\ngene: IFNAR2 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: IFNAR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNAR2 were set to 26424569\nPhenotypes for gene: IFNAR2 were set to Immunodeficiency 45, MIM#\t616669\nReview for gene: IFNAR2 was set to RED\nAdded comment: Single individual reported. \nSources: Expert list","entity_name":"IFNAR2","entity_type":"gene"},{"created":"2020-04-05T17:47:36.845117+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNAR1 as ready","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:47:36.836492+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifnar1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:47:22.706092+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFNAR1 as Amber List (moderate evidence)","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:47:22.692429+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifnar1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:47:05.047663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1974","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFNAR1 was added\ngene: IFNAR1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNAR1 were set to 31270247\nPhenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine\nReview for gene: IFNAR1 was set to AMBER\nAdded comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data. \nSources: Expert list","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:45:37.983440+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IFNAR1 as ready","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:45:37.973770+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifnar1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:45:34.262846+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IFNAR1 as Amber List (moderate evidence)","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:45:34.250062+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ifnar1 has been classified as Amber List (Moderate Evidence).","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:45:02.990184+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IFNAR1 was added\ngene: IFNAR1 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: IFNAR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFNAR1 were set to 31270247\nPhenotypes for gene: IFNAR1 were set to Severe disease caused by Yellow Fever vaccine and Measles vaccine\nReview for gene: IFNAR1 was set to AMBER\nAdded comment: Two unrelated individuals reported with bi-allelic LoF variants, some functional data. \nSources: Expert list","entity_name":"IFNAR1","entity_type":"gene"},{"created":"2020-04-05T17:40:32.085900+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF9 as ready","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:40:32.076954+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf9 has been classified as Amber List (Moderate Evidence).","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:40:21.316300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRF9 as Amber List (moderate evidence)","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:40:21.307280+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1973","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf9 has been classified as Amber List (Moderate Evidence).","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:40:01.237042+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1972","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRF9 was added\ngene: IRF9 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRF9 were set to 30826365; 30143481\nPhenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections\t618648\nReview for gene: IRF9 was set to AMBER\nAdded comment: Two families reported. \nSources: Expert list","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:38:19.419542+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IRF9 as ready","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:38:19.405688+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf9 has been classified as Amber List (Moderate Evidence).","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:38:15.269833+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IRF9 as Amber List (moderate evidence)","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:38:15.260828+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: irf9 has been classified as Amber List (Moderate Evidence).","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:37:44.677040+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IRF9 was added\ngene: IRF9 was added to Susceptibility to Viral Infections. Sources: Expert list\nMode of inheritance for gene: IRF9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IRF9 were set to 30826365; 30143481\nPhenotypes for gene: IRF9 were set to Immunodeficiency 65, susceptibility to viral infections\t618648\nReview for gene: IRF9 was set to AMBER\nAdded comment: Two families reported. \nSources: Expert list","entity_name":"IRF9","entity_type":"gene"},{"created":"2020-04-05T17:32:16.805850+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-05T17:30:48.655607+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1971","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CIB1 as ready","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:30:48.646928+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1971","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cib1 has been classified as Green List (High Evidence).","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:30:39.239993+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1971","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CIB1 as Green List (high evidence)","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:30:39.231306+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1971","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cib1 has been classified as Green List (High Evidence).","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:30:21.648699+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1970","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIB1 was added\ngene: CIB1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB1 were set to 30068544\nPhenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3\t618267; HPV infections and cancer of the skin\nReview for gene: CIB1 was set to GREEN\nAdded comment: 24 individuals from 6 families reported. \nSources: Expert list","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:29:01.396901+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CIB1 as ready","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:29:01.383028+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cib1 has been classified as Green List (High Evidence).","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:28:57.498769+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CIB1 as Green List (high evidence)","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:28:57.485998+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cib1 has been classified as Green List (High Evidence).","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:28:29.838974+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CIB1 was added\ngene: CIB1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: CIB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIB1 were set to 30068544\nPhenotypes for gene: CIB1 were set to Epidermodysplasia verruciformis 3\t618267; HPV infections and cancer of the skin\nReview for gene: CIB1 was set to GREEN\nAdded comment: 24 individuals from 6 families reported. \nSources: Expert list","entity_name":"CIB1","entity_type":"gene"},{"created":"2020-04-05T17:25:50.252006+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: JAK1 as ready","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:25:50.238747+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jak1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:25:36.358289+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1969","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; Susceptibility to mycobacteria and viruses","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:25:21.573591+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1968","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: JAK1 were set to 28111307","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:24:55.423728+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1967","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: JAK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:24:37.103207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAK1 as Amber List (moderate evidence)","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:24:37.089925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jak1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:24:18.329334+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Single family reported (mother and two children) with GoF variant. \nSources: Expert list; to: Single family reported (mother and two children) with GoF variant and immune dysregulation phenotype. Another individual reported with bi-allelic LoF and susceptibility to mycobacterial infections. Mouse model with NK defect.\r\nSources: Expert list","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:23:25.207478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: JAK1: Changed rating: AMBER; Changed publications: 28111307, 28008925, 30671064; Changed phenotypes: Eosinophilia, Eosinophilic enteritis, Thyroid disease, Poor growth, Viral infections, Susceptibility to mycobacteria and viruses; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:22:26.785853+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: JAK1 as Amber List (moderate evidence)","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:22:26.777333+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: jak1 has been classified as Amber List (Moderate Evidence).","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:21:58.063529+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: JAK1 was added\ngene: JAK1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: JAK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JAK1 were set to 28008925; 30671064\nPhenotypes for gene: JAK1 were set to Susceptibility to mycobacteria and viruses\nReview for gene: JAK1 was set to AMBER\nAdded comment: Single individual reported, mouse model with NK cell defect. \nSources: Expert list","entity_name":"JAK1","entity_type":"gene"},{"created":"2020-04-05T17:16:15.261332+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPPL2A as ready","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:16:15.252475+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sppl2a has been classified as Amber List (Moderate Evidence).","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:16:05.210528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPPL2A as Amber List (moderate evidence)","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:16:05.196639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sppl2a has been classified as Amber List (Moderate Evidence).","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:15:37.596750+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1964","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPPL2A was added\ngene: SPPL2A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPPL2A were set to 30127434\nPhenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella\nReview for gene: SPPL2A was set to AMBER\nAdded comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data. \nSources: Expert list","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:14:08.892798+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPPL2A as ready","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:14:08.879412+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sppl2a has been classified as Amber List (Moderate Evidence).","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:14:04.337600+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPPL2A as Amber List (moderate evidence)","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:14:04.328901+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sppl2a has been classified as Amber List (Moderate Evidence).","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:13:34.074275+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPPL2A was added\ngene: SPPL2A was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: SPPL2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPPL2A were set to 30127434\nPhenotypes for gene: SPPL2A were set to Susceptibility to mycobacteria and Salmonella\nReview for gene: SPPL2A was set to AMBER\nAdded comment: Three individuals from two unrelated consanguineous family with two different homozygous splice site variants, functional data. \nSources: Expert list","entity_name":"SPPL2A","entity_type":"gene"},{"created":"2020-04-05T17:09:05.046995+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL23R as ready","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:09:05.038066+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il23r has been classified as Red List (Low Evidence).","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:08:54.277162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IL23R were changed from  to Susceptibility to mycobacteria and Salmonella","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:08:39.777383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1962","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IL23R were set to ","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:08:19.833520+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1961","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IL23R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:59.807007+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IL23R as Red List (low evidence)","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:59.793827+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1960","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il23r has been classified as Red List (Low Evidence).","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:41.896352+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: IL23R: Rating: RED; Mode of pathogenicity: None; Publications: 30578351; Phenotypes: Susceptibility to mycobacteria and Salmonella; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:22.476160+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL23R as ready","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:22.462392+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il23r has been classified as Red List (Low Evidence).","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:07:03.529882+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL23R was added\ngene: IL23R was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IL23R was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL23R were set to 30578351\nPhenotypes for gene: IL23R were set to Susceptibility to mycobacteria and Salmonella\nReview for gene: IL23R was set to RED\nAdded comment: Single family reported. \nSources: Expert list","entity_name":"IL23R","entity_type":"gene"},{"created":"2020-04-05T17:05:17.753587+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL12RB2 as ready","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T17:05:17.740418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il12rb2 has been classified as Red List (Low Evidence).","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T17:05:07.183426+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1959","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL12RB2 was added\ngene: IL12RB2 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL12RB2 were set to 30578351\nPhenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella\nReview for gene: IL12RB2 was set to RED\nAdded comment: Single individual reported, some functional data. \nSources: Expert list","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T17:03:57.936751+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.20","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GAMT was added\ngene: GAMT was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GAMT were set to 19027335\nPhenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736\nReview for gene: GAMT was set to RED\nAdded comment: Dystonia is not a prominent feature of the condition. A single case has been reported with dystonia as part of the phenotype. \nSources: Expert list","entity_name":"GAMT","entity_type":"gene"},{"created":"2020-04-05T17:03:40.767573+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IL12RB2 as ready","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T17:03:40.757759+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: il12rb2 has been classified as Red List (Low Evidence).","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T17:02:29.757014+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IL12RB2 was added\ngene: IL12RB2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IL12RB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL12RB2 were set to 30578351\nPhenotypes for gene: IL12RB2 were set to Susceptibility to mycobacteria and Salmonella\nReview for gene: IL12RB2 was set to RED\nAdded comment: Single individual reported, some functional data. \nSources: Expert list","entity_name":"IL12RB2","entity_type":"gene"},{"created":"2020-04-05T16:55:36.033407+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: FBXL4 as ready","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:55:36.024863+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbxl4 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:55:31.081205+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: FBXL4 as Amber List (moderate evidence)","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:55:31.072480+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.19","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: fbxl4 has been classified as Amber List (Moderate Evidence).","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:55:19.959263+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: Cannot find evidence that dystonia is a prominent feature of the condition. \nSources: Expert list; to: Dystonia is a feature of the phenotype in three out of nine cases with biallelic variants.\r\nSources: Expert list","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:53:55.767321+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of gene: FBXL4: Changed rating: AMBER","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:48:18.018193+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.18","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FBXL4 was added\ngene: FBXL4 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: FBXL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FBXL4 were set to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471\nReview for gene: FBXL4 was set to RED\nAdded comment: Cannot find evidence that dystonia is a prominent feature of the condition. \nSources: Expert list","entity_name":"FBXL4","entity_type":"gene"},{"created":"2020-04-05T16:43:55.735180+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.17","user_name":"Bryony Thompson","item_type":"entity","text":"gene: EARS2 was added\ngene: EARS2 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EARS2 were set to 22492562\nPhenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12 MIM#614924\nReview for gene: EARS2 was set to RED\nAdded comment: Dystonia does not appear to be a prominent feature of the condition. \nSources: Expert list","entity_name":"EARS2","entity_type":"gene"},{"created":"2020-04-05T16:33:24.989271+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: DCTN1 as ready","entity_name":"DCTN1","entity_type":"gene"},{"created":"2020-04-05T16:33:24.975849+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: dctn1 has been classified as Red List (Low Evidence).","entity_name":"DCTN1","entity_type":"gene"},{"created":"2020-04-05T16:33:01.376036+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.16","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DCTN1 was added\ngene: DCTN1 was added to Dystonia - complex. Sources: Expert list\nMode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DCTN1 were set to 24343258\nPhenotypes for gene: DCTN1 were set to Perry syndrome MIM#168605\nReview for gene: DCTN1 was set to RED\nAdded comment: Dystonia is reported in two out of eight cases in a single family. \nSources: Expert list","entity_name":"DCTN1","entity_type":"gene"},{"created":"2020-04-05T15:54:40.438070+10:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Melbourne Genomics; Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-05T15:53:36.563062+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.15","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: CHMP2B: Rating: RED; Mode of pathogenicity: None; Publications: 12451202; Phenotypes: Dementia, familial, nonspecific MIM#600795; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CHMP2B","entity_type":"gene"},{"created":"2020-04-05T15:52:41.092774+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C17orf62 as ready","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:52:41.083618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:52:32.029131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf62 as Green List (high evidence)","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:52:32.014588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1958","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:52:15.013274+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1957","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C17orf62 was added\ngene: C17orf62 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf62 were set to 30361506; 30312704; 28351984\nPhenotypes for gene: C17orf62 were set to Chronic granulomatous disease\nReview for gene: C17orf62 was set to GREEN\nAdded comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name) \nSources: Expert list","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:51:07.574017+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C17orf62 as ready","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:51:07.559031+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:51:03.560439+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf62 as Green List (high evidence)","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:51:03.546948+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:49:17.428436+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C17orf62 was added\ngene: C17orf62 was added to Phagocyte Defects. Sources: Expert list\nMode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf62 were set to 30361506; 30312704; 28351984\nPhenotypes for gene: C17orf62 were set to Chronic granulomatous disease\nReview for gene: C17orf62 was set to GREEN\nAdded comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name). \nSources: Expert list","entity_name":"C17orf62","entity_type":"gene"},{"created":"2020-04-05T15:41:50.880777+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MKL1 as ready","entity_name":"MKL1","entity_type":"gene"},{"created":"2020-04-05T15:41:50.872214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkl1 has been classified as Amber List (Moderate Evidence).","entity_name":"MKL1","entity_type":"gene"},{"created":"2020-04-05T15:41:41.664279+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MKL1 as Amber List (moderate evidence)","entity_name":"MKL1","entity_type":"gene"},{"created":"2020-04-05T15:41:41.651033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1956","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mkl1 has been classified as Amber List (Moderate Evidence).","entity_name":"MKL1","entity_type":"gene"},{"created":"2020-04-05T15:41:23.843330+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.1955","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MKL1 was added\ngene: MKL1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: MKL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MKL1 were set to 32128589; 26224645\nPhenotypes for gene: MKL1 were set to Neutropaenia with combined immune deficiency\nReview for gene: MKL1 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert list","entity_name":"MKL1","entity_type":"gene"}]}