{"count":220314,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1344","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1342","results":[{"created":"2021-04-23T18:30:49.085471+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7292","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:30:26.039950+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7291","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:29:08.891902+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.141","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLH as ready","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:29:08.878310+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.141","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":"2021-04-23T18:29:05.966785+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.141","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":"2021-04-23T18:28:41.330867+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLH were set to ","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:28:11.354862+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.139","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T18:27:41.520157+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: None; Publications: 10385124, 10398605; Phenotypes: Xeroderma pigmentosum, variant type, MIM# 278750, MONDO:0010214; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLH","entity_type":"gene"},{"created":"2021-04-23T17:08:04.425431+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PALB2 as ready","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-04-23T17:08:04.389310+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: palb2 has been classified as Green List (High Evidence).","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-04-23T17:07:59.841681+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.138","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PALB2 were changed from  to Fanconi anaemia, complementation group N, MIM# 610832","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-04-23T17:07:30.487053+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.137","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PALB2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-04-23T16:54:12.699656+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group N, MIM# 610832; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PALB2","entity_type":"gene"},{"created":"2021-04-23T14:45:46.611659+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHEJ1 as ready","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:45:46.601209+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Red List (Low Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:45:42.557998+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.282","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHEJ1 were changed from  to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:45:12.955674+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.281","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHEJ1 were set to ","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:44:40.708659+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.280","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:44:18.620908+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NHEJ1 as Red List (low evidence)","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:44:18.609699+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.279","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Red List (Low Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:43:52.980628+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NHEJ1: Rating: RED; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:36:32.048080+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NHEJ1 as ready","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:36:32.037755+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nhej1 has been classified as Green List (High Evidence).","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:35:49.264161+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.136","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NHEJ1 were changed from  to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291; MONDO:0012650","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:35:16.789838+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.135","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NHEJ1 were set to ","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:34:29.595044+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.134","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NHEJ1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T14:33:27.053678+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NHEJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16439204, 16439205; Phenotypes: Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291, MONDO:0012650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NHEJ1","entity_type":"gene"},{"created":"2021-04-23T10:24:12.427722+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.165","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACBD5 were set to 23105016; 27799409","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-04-23T10:23:58.797920+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.164","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ACBD5: Added comment: PMID 33427402: additional report of 36 year old female with retinal dystrophy, leukodystrophy, and psychomotor regression that started at 3 years old and a novel homozygous variant in ACBD5 (c.1467G>A, p.Trp489*).; Changed publications: 27799409, 23105016, 33427402","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-04-23T10:19:19.630098+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7291","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM#\t618374 to Epileptic encephalopathy, early infantile, 72, MIM#\t618374; Intellectual disability","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:18:54.262268+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NEUROD2 as ready","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:18:54.250806+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurod2 has been classified as Green List (High Evidence).","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:18:49.153593+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3702","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NEUROD2 were changed from Epileptic encephalopathy, early infantile, 72, MIM# 618374 to Epileptic encephalopathy, early infantile, 72, MIM# 618374; Intellectual disability","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:18:18.953946+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7290","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NEUROD2 were set to 30323019","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:17:59.772614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7289","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NEUROD2: Added comment: Additional two individuals reported with de novo variants and predominantly ID phenotype.; Changed publications: 33438828, 30323019; Changed phenotypes: Epileptic encephalopathy, early infantile, 72, MIM# 618374","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:17:40.378045+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NEUROD2 as Green List (high evidence)","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:17:40.369281+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3701","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: neurod2 has been classified as Green List (High Evidence).","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:17:07.023353+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3700","user_name":"Zornitza Stark","item_type":"entity","text":"gene: NEUROD2 was added\ngene: NEUROD2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: NEUROD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEUROD2 were set to 33438828; 30323019\nPhenotypes for gene: NEUROD2 were set to Epileptic encephalopathy, early infantile, 72, MIM# 618374\nReview for gene: NEUROD2 was set to GREEN\nAdded comment: Four unrelated individuals altogether with de novo variants in this gene, two presenting predominantly with seizures, and two with ID. \nSources: Literature","entity_name":"NEUROD2","entity_type":"gene"},{"created":"2021-04-23T10:14:18.192163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRE11 as ready","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T10:14:18.182379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mre11 has been classified as Green List (High Evidence).","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:31:19.656111+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7289","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRE11 were changed from  to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:31:02.148397+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7288","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRE11 were set to ","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:28:04.931434+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7287","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:27:39.745893+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7286","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:26:44.648144+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRE11 as ready","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:26:44.636306+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mre11 has been classified as Green List (High Evidence).","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:26:41.784916+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MRE11 were changed from  to Ataxia-telangiectasia-like disorder 1, MIM# 604391; MONDO:0024557","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:26:13.433251+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRE11 were set to ","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:25:45.954736+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MRE11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:25:14.271009+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1, MIM# 604391, MONDO:0024557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRE11","entity_type":"gene"},{"created":"2021-04-23T09:17:52.224175+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3699","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPLKIP as ready","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:17:52.214292+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3699","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mplkip has been classified as Green List (High Evidence).","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:17:48.471299+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3699","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPLKIP were changed from  to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:17:16.248205+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3698","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPLKIP were set to ","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:16:44.440221+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3697","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:16:03.515680+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:15:15.690582+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7286","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPLKIP as ready","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:15:15.680719+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7286","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mplkip has been classified as Green List (High Evidence).","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:15:07.668383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7286","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPLKIP were changed from  to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:14:47.794603+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7285","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPLKIP were set to ","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:14:27.148565+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7284","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:14:07.762316+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7283","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:13:09.817104+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MPLKIP as ready","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:13:09.807547+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mplkip has been classified as Green List (High Evidence).","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:13:06.544928+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MPLKIP were changed from  to Trichothiodystrophy 4, nonphotosensitive, MIM# 234050; MONDO:0021013","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:12:43.761038+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MPLKIP were set to ","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:12:17.056611+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MPLKIP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T09:11:43.979331+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.127","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MPLKIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15645389, 16977596; Phenotypes: Trichothiodystrophy 4, nonphotosensitive, MIM# 234050, MONDO:0021013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MPLKIP","entity_type":"gene"},{"created":"2021-04-23T07:42:51.846393+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7283","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIK3CD as ready","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-23T07:42:51.833422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7283","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pik3cd has been classified as Green List (High Evidence).","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-23T07:42:43.043036+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIK3CD were changed from  to Immunodeficiency 14B, autosomal recessive, MIM# 619281; Immunodeficiency 14A, autosomal dominant, MIM# 615513","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-23T07:42:20.836149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7282","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIK3CD were set to ","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-23T07:41:52.708413+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7281","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PIK3CD was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-23T07:41:35.158168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7280","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIK3CD: Rating: GREEN; Mode of pathogenicity: None; Publications: 30040974, 30336224, 29180244, 16984281, 24136356, 24165795, 24610295; Phenotypes: Immunodeficiency 14B, autosomal recessive, MIM# 619281, Immunodeficiency 14A, autosomal dominant, MIM# 615513; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"PIK3CD","entity_type":"gene"},{"created":"2021-04-22T21:34:28.417389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7280","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2H5 as ready","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:34:28.407026+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7280","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h5 has been classified as Green List (High Evidence).","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:34:19.920456+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7280","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2H5 were changed from  to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:34:02.009070+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7279","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF2H5 were set to ","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:33:28.566842+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7278","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:33:09.257512+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7277","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:32:10.840123+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2H5 as ready","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:32:10.827849+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2h5 has been classified as Green List (High Evidence).","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:31:55.175366+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2H5 were changed from  to Trichothiodystrophy 3, photosensitive, MIM# 616395; MONDO:0014619","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:31:31.859375+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF2H5 were set to ","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:31:03.806019+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GTF2H5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:30:38.730256+10:00","panel_name":"Chromosome Breakage Disorders","panel_id":79,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: None; Publications: 15220921, 30359777, 24986372; Phenotypes: Trichothiodystrophy 3, photosensitive, MIM# 616395, MONDO:0014619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2H5","entity_type":"gene"},{"created":"2021-04-22T21:26:21.209656+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2E2 as ready","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:26:21.194559+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:26:16.002613+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive, 616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:25:59.132847+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2E2 as Amber List (moderate evidence)","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:25:59.109652+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:25:48.763326+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTF2E2: Rating: AMBER; Mode of pathogenicity: None; Publications: 28973399; Phenotypes: Trichothiodystrophy 6, nonphotosensitive, MIM# 616943, MONDO:0014841; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:25:09.761837+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2E2 were changed from Trichothiodystrophy 6, nonphotosensitive; OMIM #616943 to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:24:37.170981+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3695","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GTF2E2 as Amber List (moderate evidence)","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:24:37.162107+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3695","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:24:01.794992+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3694","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:23:46.685931+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7277","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GTF2E2 as ready","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:23:46.676087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7277","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gtf2e2 has been classified as Amber List (Moderate Evidence).","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:23:34.302621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7277","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTF2E2 were changed from  to Trichothiodystrophy 6, nonphotosensitive, MIM# 616943; MONDO:0014841","entity_name":"GTF2E2","entity_type":"gene"},{"created":"2021-04-22T21:23:15.746505+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7276","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GTF2E2 were set to ","entity_name":"GTF2E2","entity_type":"gene"}]}