{"count":220293,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1365","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1363","results":[{"created":"2021-04-02T15:40:07.948532+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3589","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAIP were set to ","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:39:32.902660+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3588","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TRAIP: Added comment: Three families reported, though two distantly related (founder); functional data.; Changed publications: 26595769","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:38:54.728169+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6987","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAIP as ready","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:38:54.718584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6987","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traip has been classified as Green List (High Evidence).","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:38:44.521808+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6987","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAIP were changed from  to Seckel syndrome 9, MIM# 616777","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:38:23.919273+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6986","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAIP were set to ","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:38:06.930460+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6985","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:37:48.358299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6984","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:36:58.504808+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAIP as ready","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:36:58.494249+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: traip has been classified as Green List (High Evidence).","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:36:55.980325+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.626","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAIP were changed from  to Seckel syndrome 9, MIM# 616777","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:36:28.032084+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.625","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAIP were set to ","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:35:58.908920+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.624","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:35:31.581811+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 26595769; Phenotypes: Seckel syndrome 9, MIM# 616777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAIP","entity_type":"gene"},{"created":"2021-04-02T15:31:48.161701+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOP3A as ready","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:31:48.150870+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: top3a has been classified as Green List (High Evidence).","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:31:45.298512+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.589","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from  to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:31:19.720135+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.588","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to ","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:30:21.035133+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.587","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:29:47.263341+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.586","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320, 29290614; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:29:05.833096+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6984","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to 30057030; 33631320","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:28:45.889058+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6983","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOP3A: Changed publications: 30057030, 33631320, 29290614","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:26:34.667050+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TOP3A: Changed phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:26:20.053581+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOP3A as ready","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:26:20.030007+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: top3a has been classified as Green List (High Evidence).","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:26:18.347896+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809 to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:25:58.947100+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.51","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from  to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 61809","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:25:16.092520+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to ","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:24:52.533882+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:24:22.317064+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:23:39.043294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6983","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOP3A as ready","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:23:39.033463+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6983","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: top3a has been classified as Green List (High Evidence).","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:23:31.588986+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6983","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from  to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:23:14.620552+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6982","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to ","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:22:53.434789+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6981","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:22:36.222964+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6980","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:20:34.309795+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TOP3A as ready","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:20:34.300663+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: top3a has been classified as Green List (High Evidence).","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:20:26.338926+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.623","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TOP3A were changed from  to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:20:03.469849+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.622","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TOP3A were set to ","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:19:37.912052+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.621","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:19:08.334752+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TOP3A","entity_type":"gene"},{"created":"2021-04-02T15:16:13.869826+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3588","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STIL as ready","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:16:13.859629+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3588","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stil has been classified as Green List (High Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:16:09.693127+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3588","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STIL were changed from  to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:15:33.424841+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3587","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STIL were set to ","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:15:03.711292+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3586","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:14:26.161007+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:13:46.545485+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6980","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STIL as ready","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:13:46.531139+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6980","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stil has been classified as Green List (High Evidence).","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:13:39.687338+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6980","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STIL were changed from  to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:13:21.379382+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6979","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STIL were set to ","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:12:58.344732+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6978","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:12:40.808487+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6977","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO:0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:12:38.885444+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.620","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STIL were changed from  to Microcephaly 7, primary, autosomal recessive, MIM# 612703; MONDO:0012989","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:11:42.313192+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.619","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STIL were set to ","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:11:19.011888+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.618","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STIL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:10:49.711212+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19215732, 22989186, 25218063, 33132204, 32677750, 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive, MIM# 612703, MONDO_0012989; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STIL","entity_type":"gene"},{"created":"2021-04-02T15:04:19.408488+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-02T15:03:51.222417+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD50 were set to 19409520; 32212377","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-02T15:03:26.402841+11:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: RAD50: Added comment: - PMID: 33378670 (2020) - Third case with biallelic RAD50 variants comprising a compound heterozygous frameshift and premature stop codon (c.2165dup; p.Glu723Glyfs∗5 - maternally inherited) and in-frame deletion (c.3109_3111del; p.Glu1035del - de novo). The patient presented with bone marrow failure, immunodeficiency and developmental defects. Collectively, clinical features were reminiscent of impaired DNA repair and/or telomere maintenance. Functional characterisation using patient-derived fibroblasts indicated defects in DNA replication, DNA repair, and DNA end resection; however, ATM-dependent DNA damage response remained intact. Studies in yeast modelling the variant corresponding to p.Glu1035del produced defects in both DNA repair and Tel1ATM-dependent signalling following thermal activation.; Changed publications: 19409520, 32212377, 33378670; Changed phenotypes: Nijmegen breakage syndrome-like disorder, MIM# 613078, MONDO:0013118","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-02T15:00:53.085786+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6977","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAD50 were changed from Nijmegen breakage syndrome-like disorder, MIM# 613078 to Nijmegen breakage syndrome-like disorder, MIM# 613078; MONDO:0013118","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-02T15:00:16.751981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6976","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAD50 were set to 19409520; 32212377","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-02T03:00:12.546362+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6975","user_name":"Arina Puzriakova","item_type":"entity","text":"reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: None; Publications: 33378670; Phenotypes: Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAD50","entity_type":"gene"},{"created":"2021-04-01T20:40:44.679314+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HHAT as ready","entity_name":"HHAT","entity_type":"gene"},{"created":"2021-04-01T20:40:44.668416+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hhat has been classified as Amber List (Moderate Evidence).","entity_name":"HHAT","entity_type":"gene"},{"created":"2021-04-01T20:40:04.750246+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAPPC6B as ready","entity_name":"TRAPPC6B","entity_type":"gene"},{"created":"2021-04-01T20:40:04.738964+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trappc6b has been classified as Green List (High Evidence).","entity_name":"TRAPPC6B","entity_type":"gene"},{"created":"2021-04-01T20:38:22.931474+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAMBP as ready","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:38:22.918011+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stambp has been classified as Green List (High Evidence).","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:38:05.753216+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3585","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAMBP were changed from  to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:37:35.200720+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3584","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAMBP were set to ","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:37:03.500442+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3583","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:36:31.796808+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3582","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:35:58.952922+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1052","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAMBP as ready","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:35:58.943276+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1052","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stambp has been classified as Green List (High Evidence).","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:35:56.182517+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1052","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAMBP were changed from  to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:35:27.206528+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1051","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAMBP were set to ","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:34:56.728300+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1050","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:34:21.599149+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1049","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:33:46.837039+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6975","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAMBP as ready","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:33:46.823756+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6975","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stambp has been classified as Green List (High Evidence).","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:33:39.775976+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6975","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAMBP were changed from  to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:33:20.200862+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6974","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAMBP were set to ","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:33:02.223834+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6973","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:32:44.750044+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6972","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:32:02.290930+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAMBP as ready","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:32:02.281190+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stambp has been classified as Green List (High Evidence).","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:31:59.396217+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.617","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAMBP were changed from  to Microcephaly-capillary malformation syndrome, MIM# 614261; MONDO:0013659","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:31:31.977814+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.616","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAMBP were set to ","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:31:07.497978+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.615","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAMBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:30:42.789145+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 23542699, 31638258, 29907875, 27531570, 25692795, 25266620; Phenotypes: Microcephaly-capillary malformation syndrome, MIM# 614261, MONDO:0013659; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STAMBP","entity_type":"gene"},{"created":"2021-04-01T20:27:59.548346+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC9A6 as ready","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-04-01T20:27:59.537831+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc9a6 has been classified as Green List (High Evidence).","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-04-01T20:27:53.027411+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.614","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC9A6 were changed from  to Mental retardation, X-linked syndromic, Christianson type, MIM# 300243","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-04-01T20:27:26.914367+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.613","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC9A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-04-01T18:36:32.714887+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, MIM# 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC9A6","entity_type":"gene"},{"created":"2021-04-01T18:35:26.531220+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC25A19 as ready","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2021-04-01T18:35:26.519193+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc25a19 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC25A19","entity_type":"gene"},{"created":"2021-04-01T18:35:23.735921+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.612","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC25A19 were changed from  to Microcephaly, Amish type, MIM# 607196","entity_name":"SLC25A19","entity_type":"gene"}]}