{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1452","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1450","results":[{"created":"2021-01-05T11:03:47.080936+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TTC37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-01-05T11:03:17.556069+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TTC37: Rating: GREEN; Mode of pathogenicity: None; Publications: 20176027, 17318842; Phenotypes: Trichohepatoenteric syndrome 1, MIM# 222470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TTC37","entity_type":"gene"},{"created":"2021-01-05T10:50:08.774193+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5930","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT2B as ready","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:50:08.766346+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt2b has been classified as Green List (High Evidence).","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:50:00.358690+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5930","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT2B were changed from  to Diarrhoea 9, MIM# 618168","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:49:42.172207+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5929","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT2B were set to ","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:49:22.511472+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5928","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:49:02.944600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5927","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:48:17.112565+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT2B as ready","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:48:17.101666+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt2b has been classified as Green List (High Evidence).","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:48:13.985721+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: WNT2B were changed from  to Diarrhoea 9, MIM# 618168","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:47:45.512759+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WNT2B were set to ","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:47:18.190686+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WNT2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:46:46.364685+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WNT2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29909964; Phenotypes: Diarrhoea 9, MIM# 618168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WNT2B","entity_type":"gene"},{"created":"2021-01-05T10:42:39.270612+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STXBP2 as ready","entity_name":"STXBP2","entity_type":"gene"},{"created":"2021-01-05T10:42:39.256972+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp2 has been classified as Green List (High Evidence).","entity_name":"STXBP2","entity_type":"gene"},{"created":"2021-01-05T10:42:34.298422+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STXBP2 as Green List (high evidence)","entity_name":"STXBP2","entity_type":"gene"},{"created":"2021-01-05T10:42:34.290743+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stxbp2 has been classified as Green List (High Evidence).","entity_name":"STXBP2","entity_type":"gene"},{"created":"2021-01-05T10:42:05.720511+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.37","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STXBP2 was added\ngene: STXBP2 was added to Congenital Diarrhoea. Sources: Expert Review\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STXBP2 were set to 23382066; 28724787; 29266534\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, MIM#\t613101; Enteropathy\nReview for gene: STXBP2 was set to GREEN\nAdded comment: Variants in STXBP2 do not only affect cytotoxic T lymphocytes (causing HLH) but also cause changes in the intestinal epithelium resulting in severe, osmotic diarrhoea. More than 10 individuals reported with severe enteropathy, resembling MVID. \nSources: Expert Review","entity_name":"STXBP2","entity_type":"gene"},{"created":"2021-01-05T10:36:38.419917+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5927","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5B as ready","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:36:38.389507+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5927","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5b has been classified as Green List (High Evidence).","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:36:17.192685+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5927","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO5B were changed from  to Microvillus inclusion disease, MIM# 251850; Cholestasis","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:35:58.578150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5926","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO5B were set to ","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:35:38.202043+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5925","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:35:19.623788+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5924","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534, 28027573, 27532546; Phenotypes: Microvillus inclusion disease, MIM# 251850, Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:33:52.447174+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MYO5B as ready","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:33:52.439183+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myo5b has been classified as Green List (High Evidence).","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:33:49.759488+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MYO5B were changed from  to Microvillus inclusion disease, MIM# 251850","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:33:22.907506+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYO5B were set to ","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:32:50.760021+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MYO5B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:32:18.841606+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MYO5B: Rating: GREEN; Mode of pathogenicity: None; Publications: 30564347, 29266534; Phenotypes: Microvillus inclusion disease, MIM# 251850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MYO5B","entity_type":"gene"},{"created":"2021-01-05T10:28:35.942987+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from Abetalipoproteinemia, MIM# 200100 to Abetalipoproteinemia, MIM# 200100","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:28:35.160499+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MTTP as ready","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:28:35.150926+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mttp has been classified as Green List (High Evidence).","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:28:15.614763+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MTTP were changed from  to Abetalipoproteinemia, MIM# 200100","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:27:47.709917+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MTTP were set to ","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:27:19.791051+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MTTP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:26:49.740053+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 17275380; Phenotypes: Abetalipoproteinemia, MIM# 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MTTP","entity_type":"gene"},{"created":"2021-01-05T10:24:54.056413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5924","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCT as ready","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:24:54.048345+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5924","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lct has been classified as Green List (High Evidence).","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:24:46.546221+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5924","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCT were changed from  to Lactase deficiency, congenital, MIM# 223000","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:24:21.189586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5923","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:24:01.540647+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:23:19.230682+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCT as ready","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:23:19.220611+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lct has been classified as Green List (High Evidence).","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:23:12.922775+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCT were changed from  to Lactase deficiency, congenital, MIM# 223000","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:22:45.372086+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.29","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-05T10:22:15.592615+11:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LCT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactase deficiency, congenital, MIM# 223000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCT","entity_type":"gene"},{"created":"2021-01-04T18:32:30.083450+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EIF2AK2 as ready","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-01-04T18:32:30.072686+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: eif2ak2 has been classified as Green List (High Evidence).","entity_name":"EIF2AK2","entity_type":"gene"},{"created":"2021-01-04T18:30:28.979928+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBRSL1 as ready","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:30:28.968490+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Green List (High Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:30:16.492719+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBRSL1 as ready","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:30:16.481822+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Green List (High Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:29:48.186061+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBRSL1 as ready","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:29:48.178651+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Amber List (Moderate Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:29:35.355074+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FBRSL1 as ready","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:29:35.343341+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fbrsl1 has been classified as Green List (High Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T18:27:38.670861+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.995","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2B as ready","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:27:38.658519+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.995","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:27:33.672144+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.995","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CAMK2B as Green List (high evidence)","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:27:33.661077+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.995","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:27:01.995477+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.994","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CAMK2B was added\ngene: CAMK2B was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CAMK2B were set to 29100089; 29560374; 32875707\nPhenotypes for gene: CAMK2B were set to Mental retardation, autosomal dominant 54, MIM# 617799\nReview for gene: CAMK2B was set to GREEN\nAdded comment: More than 10 unrelated individuals reported, at least 5 had seizures. \nSources: Expert Review","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:24:37.653165+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2B as ready","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:24:37.644131+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:24:32.752659+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMK2B were changed from  to Mental retardation, autosomal dominant 54, MIM# 617799","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:24:02.945837+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3370","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMK2B were set to ","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:23:31.494950+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3369","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:22:57.730503+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3368","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:22:07.731182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2B as ready","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:22:07.721923+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:22:00.648378+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5922","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMK2B were changed from  to Mental retardation, autosomal dominant 54, MIM# 617799","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:21:41.550113+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5921","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAMK2B were set to ","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:21:22.471115+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5920","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CAMK2B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:21:05.169792+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5919","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CAMK2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 29100089, 29560374, 32875707; Phenotypes: Mental retardation, autosomal dominant 54, MIM# 617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:54.021036+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2B as ready","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:54.009999+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:50.491982+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM#\t617799; microcephaly; intellectual disability; behavioural problems","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:03.152685+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CAMK2B as ready","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:03.137962+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: camk2b has been classified as Green List (High Evidence).","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T18:18:00.144540+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.518","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CAMK2B were changed from microcephaly; intellectual disability; behavioural problems to Mental retardation, autosomal dominant 54, MIM#\t617799; microcephaly; intellectual disability; behavioural problems","entity_name":"CAMK2B","entity_type":"gene"},{"created":"2021-01-04T16:15:48.321639+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.3","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 33230297; Phenotypes: type I interferonopathy Aicardi–Goutières syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"LSM11","entity_type":"gene"},{"created":"2021-01-04T16:15:07.399799+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.3","user_name":"Ee Ming Wong","item_type":"entity","text":"Deleted their review","entity_name":"LSM11","entity_type":"gene"},{"created":"2021-01-04T16:14:30.881431+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.3","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LSM11 was added\ngene: LSM11 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature","entity_name":"LSM11","entity_type":"gene"},{"created":"2021-01-04T16:13:54.149763+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.3","user_name":"Paul De Fazio","item_type":"entity","text":"gene: RNU7-1 was added\ngene: RNU7-1 was added to Brain Calcification. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:13:44.070909+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3368","user_name":"Elena Savva","item_type":"entity","text":"gene: RALGAPB was added\ngene: RALGAPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RALGAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RALGAPB were set to PMID: 32853829\nPhenotypes for gene: RALGAPB were set to Neurodevelopmental disorders, autism\nReview for gene: RALGAPB was set to RED\nAdded comment: PMID: 32853829 -  Reviews previous publications and identifies 10 de novo variants (5 PTCs, 5 missense) in patients with ASD (7/10), epilepsy (2/10) and developmental delay (1/10). \nSources: Literature","entity_name":"RALGAPB","entity_type":"gene"},{"created":"2021-01-04T16:13:20.621526+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.159","user_name":"Sue White","item_type":"entity","text":"Classified gene: RNU7-1 as Green List (high evidence)","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:13:20.609721+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.159","user_name":"Sue White","item_type":"entity","text":"Gene: rnu7-1 has been classified as Green List (High Evidence).","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:12:10.109356+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.230","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LSM11 was added\ngene: LSM11 was added to Regression. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\nReview for gene: LSM11 was set to RED\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature","entity_name":"LSM11","entity_type":"gene"},{"created":"2021-01-04T16:11:47.701448+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.230","user_name":"Paul De Fazio","item_type":"entity","text":"gene: RNU7-1 was added\ngene: RNU7-1 was added to Regression. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:11:00.193693+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3368","user_name":"Paul De Fazio","item_type":"entity","text":"gene: RNU7-1 was added\ngene: RNU7-1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:10:09.449632+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3368","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LSM11 was added\ngene: LSM11 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSM11 were set to PMID: 33230297\nPhenotypes for gene: LSM11 were set to type I interferonopathy Aicardi–Goutières syndrome\nReview for gene: LSM11 was set to RED\ngene: LSM11 was marked as current diagnostic\nAdded comment: - Two affected siblings from a consanguineous family carrying a homozygous variant in LSM11\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs\r\n- Knockdown of LSM11 in THP-1 cells results in an increase in misprocessed RDH mRNA and\r\ninterferon signaling\r\n\r\n(added as Red as per discussion with Seb) \nSources: Literature","entity_name":"LSM11","entity_type":"gene"},{"created":"2021-01-04T16:10:03.164807+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.158","user_name":"Paul De Fazio","item_type":"entity","text":"gene: RNU7-1 was added\ngene: RNU7-1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: RNU7-1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNU7-1 were set to 33230297\nPhenotypes for gene: RNU7-1 were set to Aicardi–Goutières syndrome-like\nReview for gene: RNU7-1 was set to GREEN\ngene: RNU7-1 was marked as current diagnostic\nAdded comment: Review originally submitted by Ming Wong\r\n- 16 affected individuals from 11 families\r\n- Compared to control fibroblasts, patient fibroblasts were enriched for misprocessed forms of\r\nreplication-dependent histone (RDH) mRNAs \nSources: Literature","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2021-01-04T16:09:56.236913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5919","user_name":"Sue White","item_type":"entity","text":"Classified gene: FBRSL1 as Green List (high evidence)","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T16:09:56.226429+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5919","user_name":"Sue White","item_type":"entity","text":"Gene: fbrsl1 has been classified as Green List (High Evidence).","entity_name":"FBRSL1","entity_type":"gene"},{"created":"2021-01-04T16:08:49.226949+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.90","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: RPL3L as ready","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-01-04T16:08:49.219471+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.90","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl3l has been classified as Green List (High Evidence).","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-01-04T16:08:42.612649+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.90","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: RPL3L as Green List (high evidence)","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-01-04T16:08:42.605112+11:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"0.90","user_name":"Seb Lunke","item_type":"entity","text":"Gene: rpl3l has been classified as Green List (High Evidence).","entity_name":"RPL3L","entity_type":"gene"},{"created":"2021-01-04T16:08:18.752257+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.83","user_name":"Elena Savva","item_type":"entity","text":"Deleted their review","entity_name":"RPL3L","entity_type":"gene"}]}