{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1343","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1341","results":[{"created":"2021-04-24T08:17:03.929716+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.167","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ZBTB24 was added\ngene: ZBTB24 was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB24 were set to 21596365; 21906047; 23486536\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, MIM#\t614069; MONDO:0013553\nReview for gene: ZBTB24 was set to GREEN\nAdded comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and intellectual disability. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohaemagglutinin stimulation.\r\n\r\n20 unrelated families reported. \nSources: Expert Review","entity_name":"ZBTB24","entity_type":"gene"},{"created":"2021-04-24T08:13:31.396301+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7311","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA7 as ready","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:13:31.384755+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7311","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca7 has been classified as Green List (High Evidence).","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:13:14.624496+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7311","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDCA7 were changed from  to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910; MONDO:0014828","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:12:53.515160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7310","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CDCA7 were set to ","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:12:33.729406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7309","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDCA7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:12:13.038594+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7308","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CDCA7: Rating: GREEN; Mode of pathogenicity: None; Publications: 26216346; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910, MONDO:0014828; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:11:07.542054+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA7 as ready","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:11:07.529500+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca7 has been classified as Green List (High Evidence).","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:11:03.060660+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.166","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CDCA7 were changed from Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#\t616910 to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#\t616910; MONDO:0014828","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:10:36.623294+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDCA7 as Green List (high evidence)","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:10:36.613576+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca7 has been classified as Green List (High Evidence).","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-24T08:10:02.249569+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDCA7 was added\ngene: CDCA7 was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDCA7 were set to 26216346\nPhenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM#\t616910\nReview for gene: CDCA7 was set to GREEN\nAdded comment: Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development.\r\n\r\nAt least 4 unrelated families reported. \nSources: Expert Review","entity_name":"CDCA7","entity_type":"gene"},{"created":"2021-04-23T22:11:35.739613+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNMT3B as ready","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-04-23T22:11:35.729745+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnmt3b has been classified as Green List (High Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-04-23T22:11:25.453196+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNMT3B as Green List (high evidence)","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-04-23T22:11:25.443798+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnmt3b has been classified as Green List (High Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-04-23T22:11:02.444198+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNMT3B was added\ngene: DNMT3B was added to Chromosome Breakage Disorders. Sources: Expert Review\nMode of inheritance for gene: DNMT3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNMT3B were set to 10647011; 23486536\nPhenotypes for gene: DNMT3B were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM#\t242860\nReview for gene: DNMT3B was set to GREEN\nAdded comment: Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency, and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes.\r\n\r\nMore than 20 unrelated families reported. \nSources: Expert Review","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-04-23T22:07:01.214219+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XRCC4 as ready","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:07:01.201641+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xrcc4 has been classified as Green List (High Evidence).","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:07:00.399476+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7308","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XRCC4 were changed from Short stature, microcephaly, and endocrine dysfunction (MIM#616541) to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:06:40.606319+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7307","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short stature, microcephaly, and endocrine dysfunction, MIM# 616541, MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:06:20.387702+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XRCC4 were changed from  to Short stature, microcephaly, and endocrine dysfunction, MIM# 616541; MONDO:0014686","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:05:50.887339+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XRCC4 were set to ","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:05:28.918288+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XRCC4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:04:58.226755+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XRCC4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24389050, 25728776, 25872942; Phenotypes: Short stature, microcephaly, and endocrine dysfunction, MIM# 616541, MONDO:0014686; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XRCC4","entity_type":"gene"},{"created":"2021-04-23T22:02:37.440757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7307","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPC as ready","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:02:37.430638+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7307","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpc has been classified as Green List (High Evidence).","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:02:21.117611+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7307","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPC were changed from  to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:01:53.836019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7306","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPC were set to ","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:01:34.031129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7305","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:01:12.954347+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7304","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:00:54.989305+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPC as ready","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:00:54.979177+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpc has been classified as Green List (High Evidence).","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:00:28.954417+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPC were changed from  to Xeroderma pigmentosum, group C, MIM# 278720; MONDO:0010211","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T22:00:06.000291+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPC were set to ","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T21:59:30.650704+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XPC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T21:59:06.586589+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: None; Publications: 10447254; Phenotypes: Xeroderma pigmentosum, group C, MIM# 278720, MONDO:0010211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPC","entity_type":"gene"},{"created":"2021-04-23T21:56:54.058495+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPA as ready","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:56:54.047660+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpa has been classified as Green List (High Evidence).","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:56:47.244340+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7304","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPA were changed from  to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:56:28.957528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7303","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPA were set to ","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:56:05.556776+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7302","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:55:45.627643+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7301","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2234061, 1372102; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700, MONDO:0010210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:55:26.775106+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPA as ready","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:55:26.764607+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpa has been classified as Green List (High Evidence).","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:55:15.796498+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: XPA were changed from  to Xeroderma pigmentosum, group A , MIM#278700; MONDO:0010210","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:54:42.022679+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: XPA were set to ","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:54:16.848600+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: XPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:53:46.242758+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 2234061, 1372102; Phenotypes: Xeroderma pigmentosum, group A , MIM#278700, MONDO:0010210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPA","entity_type":"gene"},{"created":"2021-04-23T21:24:13.904341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7301","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMI2 as ready","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:24:13.889816+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7301","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmi2 has been classified as Amber List (Moderate Evidence).","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:24:02.727304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7301","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMI2 were changed from  to Bloom-like syndrome","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:23:43.006345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7300","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMI2 were set to ","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:23:17.529110+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7299","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:59.655154+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7298","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RMI2 as Amber List (moderate evidence)","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:59.646418+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmi2 has been classified as Amber List (Moderate Evidence).","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:39.842478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7297","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RMI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27977684; Phenotypes: Bloom-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:32.192422+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RMI2 as ready","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:32.182054+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmi2 has been classified as Amber List (Moderate Evidence).","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:22:13.846092+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RMI2 were changed from  to Bloom-like syndrome","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:21:38.240239+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RMI2 were set to ","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:21:16.277192+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RMI2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:20:49.395232+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RMI2 as Amber List (moderate evidence)","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:20:49.383174+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rmi2 has been classified as Amber List (Moderate Evidence).","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T21:19:33.992326+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RMI2: Rating: AMBER; Mode of pathogenicity: None; Publications: 27977684; Phenotypes: Bloom-like syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RMI2","entity_type":"gene"},{"created":"2021-04-23T19:37:07.935119+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RECQL4 as ready","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:37:07.924294+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: recql4 has been classified as Green List (High Evidence).","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:37:01.312688+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RECQL4 were changed from  to Rothmund-Thomson syndrome, type 2, MIM# 268400; RAPADILINO syndrome, MIM# 266280; Baller-Gerold syndrome, MIM# 218600","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:36:28.453270+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RECQL4 were set to ","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:36:00.201348+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RECQL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:35:30.478575+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10319867, 12952869, 15964893; Phenotypes: Rothmund-Thomson syndrome, type 2, MIM# 268400, RAPADILINO syndrome, MIM# 266280, Baller-Gerold syndrome, MIM# 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RECQL4","entity_type":"gene"},{"created":"2021-04-23T19:31:54.572700+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD51 as ready","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:31:54.562260+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51 has been classified as Amber List (Moderate Evidence).","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:31:48.931968+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAD51 as Amber List (moderate evidence)","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:31:48.923178+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51 has been classified as Amber List (Moderate Evidence).","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:30:50.821461+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. \nSources: Expert Review; to: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. However, only one had radial ray abnormalities.\r\nSources: Expert Review","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:30:34.355871+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAD51: Changed rating: AMBER","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:30:09.326535+10:00","panel_name":"Radial Ray Abnormalities","panel_id":163,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"gene: RAD51 was added\ngene: RAD51 was added to Radial Ray Abnormalities. Sources: Expert Review\nMode of inheritance for gene: RAD51 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAD51 were set to 26253028; 26681308; 30907510\nPhenotypes for gene: RAD51 were set to Fanconi anaemia, complementation group R, MIM# 617244\nReview for gene: RAD51 was set to GREEN\nAdded comment: Three unrelated individuals reported with de novo variants in this gene and FA phenotype. \nSources: Expert Review","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:14:25.890667+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7297","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAD51: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:14:11.506890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7297","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD51 as ready","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:14:11.477926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7297","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51 has been classified as Green List (High Evidence).","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:13:53.909442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7297","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD51 were changed from  to Fanconi anaemia, complementation group R, MIM# 617244","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:13:30.364625+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7296","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD51 were set to ","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:13:08.050553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7295","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:12:27.080290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7294","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anaemia, complementation group R, MIM# 617244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:10:44.295229+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAD51: Changed phenotypes: Fanconi anaemia, complementation group R, MIM# 617244","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:10:26.752395+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD51 were changed from Fanconi anemia, complementation group R, MIM# 617244 to Fanconi anaemia, complementation group R, MIM# 617244","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:10:03.462797+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAD51 as ready","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:10:03.452997+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rad51 has been classified as Green List (High Evidence).","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:10:00.360991+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.144","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD51 were changed from  to Fanconi anemia, complementation group R, MIM# 617244","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:09:36.137765+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.143","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD51 were set to ","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:09:06.827423+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.142","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAD51 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T19:08:31.900388+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: None; Publications: 26253028, 26681308, 30907510; Phenotypes: Fanconi anemia, complementation group R, MIM# 617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAD51","entity_type":"gene"},{"created":"2021-04-23T18:33:10.666476+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLH were changed from Xeroderma pigmentosum, variant type, MIM# 278750 to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:32:31.635255+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POLH: Changed phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:32:06.787207+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLH as ready","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:32:06.777214+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polh has been classified as Green List (High Evidence).","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:32:00.144467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7294","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLH were changed from  to Xeroderma pigmentosum, variant type, MIM# 278750; MONDO:0010214","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:31:17.752456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7293","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLH were set to ","entity_name":"POLH","entity_type":"gene"}]}