{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1304","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1302","results":[{"created":"2021-06-07T15:26:42.089223+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Teresa Zhao","item_type":"entity","text":"gene: CADM3 was added\ngene: CADM3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CADM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CADM3 were set to PMID: 33889941\nPhenotypes for gene: CADM3 were set to Charcot-Marie-Tooth disease\nReview for gene: CADM3 was set to AMBER\nAdded comment: Three families reported with the same missense variant in CADM3 p.Tyr172Cys (one family de novo), with mice work to show reduced expression of the mutant protein in axons and abnormal axonal organization. \nSources: Literature","entity_name":"CADM3","entity_type":"gene"},{"created":"2021-06-07T15:26:04.605711+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Dean Phelan","item_type":"entity","text":"gene: ANGPTL8 was added\ngene: ANGPTL8 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ANGPTL8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANGPTL8 were set to PMID: 33909604\nPhenotypes for gene: ANGPTL8 were set to Low serum triglycerides; Coronary artery disease\nReview for gene: ANGPTL8 was set to RED\nAdded comment: PMID: 33909604 - Population studies showed PTV are associated with both lipid levels and coronary artery disease. \nSources: Literature","entity_name":"ANGPTL8","entity_type":"gene"},{"created":"2021-06-07T15:25:46.943766+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3845","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder Floating-Harbor syndrome (FLHS).\r\n\r\nA cohort of 33 individuals with mostly de novo truncating variants both proximal and distal to the FLHS locus were found to have a distinct phenotype and DNA methylation pattern to FLHS.; to: Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS).\r\n\r\nA cohort of 33 individuals with mostly de novo truncating variants both proximal and distal to the FLHS locus were found to have a distinct phenotype and DNA methylation pattern to FLHS, referred to by the authors as \"non-FLHS SRCAP-related NDD\".","entity_name":"SRCAP","entity_type":"gene"},{"created":"2021-06-07T15:25:30.348396+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.36","user_name":"Sue White","item_type":"entity","text":"Classified gene: ADAMTSL2 as Amber List (moderate evidence)","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-06-07T15:25:30.339270+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.36","user_name":"Sue White","item_type":"entity","text":"Gene: adamtsl2 has been classified as Amber List (Moderate Evidence).","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-06-07T15:24:37.523374+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3845","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SRCAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33909990; Phenotypes: Floating-Harbor syndrome MIM#136140; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"SRCAP","entity_type":"gene"},{"created":"2021-06-07T15:23:37.039525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Chern Lim","item_type":"entity","text":"gene: PGM2L1 was added\ngene: PGM2L1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PGM2L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM2L1 were set to 33979636\nPhenotypes for gene: PGM2L1 were set to severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris\nReview for gene: PGM2L1 was set to GREEN\ngene: PGM2L1 was marked as current diagnostic\nAdded comment: PMID: 33979636:\r\n- Hom/chet PTVs in 4 unrelated individuals. All four affected individuals had severe developmental and speech delay, dysmorphic facial features, ear anomalies, high arched palate, strabismus, hypotonia, and keratosis pilaris. Early obesity and seizures were present in three individuals.\r\n- Studies on patient fibroblasts and cell lines indicated that PGM2L1 deficiency causes a decrease, but not a disappearance, of the sugar bisphosphates needed for the formation of NDP-sugars and that there is no evidence that this leads to a glycosylation defect. \nSources: Literature","entity_name":"PGM2L1","entity_type":"gene"},{"created":"2021-06-07T15:20:41.271957+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.35","user_name":"Sue White","item_type":"entity","text":"gene: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: ADAMTSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ADAMTSL2 were set to 33369194; 26879370\nPhenotypes for gene: ADAMTSL2 were set to Dermatosparaxic Ehlers Danlos syndrome\nPenetrance for gene: ADAMTSL2 were set to unknown\nReview for gene: ADAMTSL2 was set to AMBER\nAdded comment: Desai et al reported one family with a monoallelic variant in ADAMTSL2 (p. Gly421Ser) and features of Dermatosparaxic EDS (dEDS). \r\nSteinle et al reported 5 unrelated individuals with the same missense variant in ADAMTSL2 (p. Gly421Ser) and connective tissue phenotype including generalized joint hypermobility and pain with fragility of internal and external tissues including of skin, dura, and arteries. Individuals had family history consistent with autosomal dominant inheritance.\r\nNo functional studies done. Variant is absent from GnomAD. \nSources: Literature","entity_name":"ADAMTSL2","entity_type":"gene"},{"created":"2021-06-07T15:18:24.420102+10:00","panel_name":"Congenital Disorders of Glycosylation","panel_id":68,"panel_version":"1.12","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 33964207; Phenotypes: Congenital disorder of glycosylation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2021-06-07T10:34:46.500743+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2021-06-07T10:34:17.534156+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNB1 as ready","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:34:17.519389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnb1 has been classified as Green List (High Evidence).","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:34:09.691973+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7891","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNB1 were changed from  to Epileptic encephalopathy, early infantile, 26, MIM# 616056","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:33:52.930215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7890","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNB1 were set to ","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:33:31.265759+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7889","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNB1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:33:12.360888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7888","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600826, 31513310; Phenotypes: Epileptic encephalopathy, early infantile, 26, MIM# 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNB1","entity_type":"gene"},{"created":"2021-06-07T10:28:23.960003+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT1 as ready","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:28:23.951109+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt1 has been classified as Red List (Low Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:28:20.603680+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.338","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYT1 were changed from  to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:27:50.346688+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.337","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT1 were set to ","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:27:28.141693+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.336","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:27:04.684444+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SYT1 as Red List (low evidence)","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:27:04.674850+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.335","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt1 has been classified as Red List (Low Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:26:32.976221+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT1: Rating: RED; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:25:32.827440+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3845","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:25:01.695442+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3845","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYT1 were changed from Baker-Gordon syndrome; OMIM #618218 to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:24:20.587906+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7888","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT1 as ready","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:24:20.578617+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7888","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt1 has been classified as Green List (High Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:24:12.279960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7888","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYT1 were changed from  to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:23:51.730707+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7887","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT1 were set to ","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:23:30.472103+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7886","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:23:11.198984+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7885","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:22:28.295128+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SYT1 as ready","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:22:28.284722+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: syt1 has been classified as Green List (High Evidence).","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:20:56.599605+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SYT1 were changed from  to Baker-Gordon syndrome, MIM# 618218; MONDO:0033864","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:20:27.279836+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SYT1 were set to ","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:20:05.854777+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SYT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:19:35.397530+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SYT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30107533; Phenotypes: Baker-Gordon syndrome, MIM# 618218, MONDO:0033864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SYT1","entity_type":"gene"},{"created":"2021-06-07T10:17:57.442324+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCF4 as ready","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-06-07T10:17:57.431417+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcf4 has been classified as Green List (High Evidence).","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-06-07T10:17:54.996232+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCF4 were changed from  to Pitt-Hopkins syndrome, MIM# 610954","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-06-07T10:17:10.852162+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-06-07T10:16:41.007483+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pitt-Hopkins syndrome, MIM# 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TCF4","entity_type":"gene"},{"created":"2021-06-07T10:15:57.400901+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:15:39.062054+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:15:21.383359+10:00","panel_name":"Ataxia - paediatric","panel_id":271,"panel_version":"0.283","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from Neurodegeneration, childhood-onset, with brain atrophy MIM#617672 to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:14:56.178671+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:14:56.168433+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:14:51.762776+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3844","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from  to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:14:19.343790+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3843","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to ","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:13:41.957589+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3842","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:13:13.410496+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3841","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:12:32.451479+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:12:32.440128+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:12:28.850076+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.334","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from  to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:11:29.674739+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.333","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to ","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:11:01.697659+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.332","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:10:34.417941+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.331","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:09:57.006038+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7885","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:09:56.993089+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7885","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubtf has been classified as Green List (High Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:09:48.908064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7885","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from  to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:09:29.920339+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7884","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to ","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:09:12.494860+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:08:52.482768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7882","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBTF: Rating: GREEN; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:08:11.436158+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: UBTF as ready","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:08:11.424254+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubtf has been classified as Amber List (Moderate Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:08:08.363405+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: UBTF were changed from  to Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672; MONDO:0044701","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:06:19.080948+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: UBTF were set to ","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:05:50.791476+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: UBTF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:05:24.758572+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: UBTF as Amber List (moderate evidence)","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:05:24.747962+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ubtf has been classified as Amber List (Moderate Evidence).","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T10:05:00.117635+10:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: UBTF: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777933, 29300972; Phenotypes: Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672, MONDO:0044701; Mode of inheritance: None","entity_name":"UBTF","entity_type":"gene"},{"created":"2021-06-07T09:59:55.385790+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:59:55.376922+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:59:52.439685+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from MOWAT-WILSON SYNDROME; MOWS to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:59:42.385319+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:59:29.573234+10:00","panel_name":"Clefting disorders","panel_id":3368,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384, 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:57:46.869899+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:57:17.511709+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:56:58.194346+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7882","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:56:58.184341+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7882","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:56:51.021559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7882","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:56:32.916686+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.7881","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:56:03.875726+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:55:49.247814+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:55:49.237306+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:55:46.236500+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:55:18.340628+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:54:48.601467+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:54:16.862409+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384, 27831545, 24715670, 19215041, 17958891; Phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:53:21.320917+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1113","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:53:03.964115+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1113","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:52:37.245605+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1112","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZEB2: Changed publications: 29300384, 27831545, 24715670, 19215041, 17958891","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:52:30.268794+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3841","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from Mowat-Wilson syndrome (MIM#235730) to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:52:10.321372+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1112","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:52:10.311688+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zeb2 has been classified as Green List (High Evidence).","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:51:55.870825+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3840","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ZEB2.","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:51:44.980257+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3840","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZEB2: Changed phenotypes: Mowat-Wilson syndrome, MIM# 235730, MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:51:37.550210+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1112","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome, MIM# 235730; MONDO:0009341","entity_name":"ZEB2","entity_type":"gene"},{"created":"2021-06-07T09:51:01.536005+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1111","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ZEB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"}]}