{"count":220482,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1531","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1529","results":[{"created":"2020-10-20T21:14:42.755944+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.494","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":"2020-10-20T21:14:40.182380+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.494","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome (MIM#235730)","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:14:08.766419+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:13:41.187245+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.492","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":"2020-10-20T21:13:10.247170+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.491","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:12:18.392963+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZEB2 as ready","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:12:18.384400+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.10","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":"2020-10-20T21:12:15.539288+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome (MIM#235730)","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:11:46.852259+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:11:21.438862+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.8","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":"2020-10-20T21:10:52.415685+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:10:25.837591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5054","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZEB2 were changed from  to Mowat-Wilson syndrome (MIM#235730)","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:10:00.550140+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5053","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZEB2 were set to ","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T21:09:27.411419+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5052","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":"2020-10-20T21:08:39.159112+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITSN2 as ready","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:08:39.151796+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itsn2 has been classified as Green List (High Evidence).","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:08:34.967536+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITSN2 as Green List (high evidence)","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:08:34.959614+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.140","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itsn2 has been classified as Green List (High Evidence).","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:07:58.444070+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITSN2 as ready","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:07:58.435795+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itsn2 has been classified as Green List (High Evidence).","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:07:50.356260+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5051","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITSN2 as Green List (high evidence)","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:07:50.344788+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itsn2 has been classified as Green List (High Evidence).","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T21:06:45.813749+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KANSL1 as ready","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:06:45.802849+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kansl1 has been classified as Green List (High Evidence).","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:06:43.528351+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KANSL1 were changed from  to Koolen-De Vries syndrome, MIM# 610443","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:06:14.460445+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KANSL1 were set to ","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:05:47.632060+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KANSL1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:05:19.348565+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KANSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26306646; Phenotypes: Koolen-De Vries syndrome, MIM# 610443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KANSL1","entity_type":"gene"},{"created":"2020-10-20T21:04:02.573157+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TAF1 as ready","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T21:04:02.564843+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T21:03:58.786643+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TAF1 were changed from Dystonia-Parkinsonism, X-linked 314250; Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay to Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T21:03:26.514191+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TAF1 as Amber List (moderate evidence)","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T21:03:26.504047+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: taf1 has been classified as Amber List (Moderate Evidence).","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T12:04:21.615175+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5050","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29300384; Phenotypes: Mowat-Wilson syndrome (MIM#235730); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ZEB2","entity_type":"gene"},{"created":"2020-10-20T11:45:57.692828+11:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.139","user_name":"Elena Savva","item_type":"entity","text":"gene: ITSN2 was added\ngene: ITSN2 was added to Proteinuria. Sources: Literature\nMode of inheritance for gene: ITSN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITSN2 were set to PMID: 29773874\nPhenotypes for gene: ITSN2 were set to Nephrotic syndrome\nReview for gene: ITSN2 was set to GREEN\nAdded comment: PMID: 29773874: 2 families (3 patients) with homozygous missense or chet missense/PTC + null mice recapitulating the human phenotype.\r\nFunctional analysis of all variants shows an inability for Cdc42 activation as shown by wildtype overexpression \nSources: Literature","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T11:45:08.303025+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5050","user_name":"Elena Savva","item_type":"entity","text":"gene: ITSN2 was added\ngene: ITSN2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ITSN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITSN2 were set to PMID: 29773874\nPhenotypes for gene: ITSN2 were set to Nephrotic syndrome\nReview for gene: ITSN2 was set to GREEN\nAdded comment: PMID: 29773874: 2 families (3 patients) with homozygous missense or chet missense/PTC + null mice recapitulating the human phenotype.\r\nFunctional analysis of all variants shows an inability for Cdc42 activation as shown by wildtype overexpression \nSources: Literature","entity_name":"ITSN2","entity_type":"gene"},{"created":"2020-10-20T10:06:00.399479+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.73","user_name":"Elena Savva","item_type":"entity","text":"gene: TAF1 was added\ngene: TAF1 was added to Congenital Heart Defect. Sources: Literature\nMode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TAF1 were set to PMID: 32396742; 31646703; 26637982; 31341187\nPhenotypes for gene: TAF1 were set to Dystonia-Parkinsonism, X-linked 314250; Mental retardation, X-linked, syndromic 33 300966; congenital cardiac disease and global developmental delay\nReview for gene: TAF1 was set to AMBER\nAdded comment: -Carrier females consistently shown to be asymptomatic with skewed X-inactivation\r\n-While no PTCs have been reported, the lack of representation in population databases strongly suggests these mutations are not compatible with life (Gudmundsson, S. et al. (2019))\r\n\r\nTwo patients with hemizygous missense variants, with congenital cardiac disease and global developmental delay \nSources: Literature","entity_name":"TAF1","entity_type":"gene"},{"created":"2020-10-20T09:53:53.790657+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-10-20T09:53:21.238854+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUTS2 as Amber List (moderate evidence)","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-10-20T09:53:21.231054+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Amber List (Moderate Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-10-20T09:07:44.625177+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.150","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: AUTS2: Added comment: aka KIAA0442\r\n\r\nPMID: 17211639 - 5 patients (4 families) with translocation rearrangements resulting in truncated AUTS2. 1/5 patients has a hypoplastic brain stem, 2/5 (both twins) show cerebral atrophy. Remaining 2/5 patients did not have an MRI. All patients were <18 years old.\r\n\r\nPMID: 27075013 - describes 13 patients with CNVs in the AUTS2 gene. Report \"An MRI was done in eight patients. None had structural brain malformations except for a stable arachnoidal cyst in one.\"\r\n\r\nPMID: 22872102 - describes 4 patients with CNVs in AUTS2. Only 2/4 had an MRI, both regarded as \"normal\", patients were aged 10 and 3 yo.\r\n\r\nPMID: 31474318 - 4 patients with de novo inframe deletions, frameshift and missense variants. Patients are from a cohort with either Dandy-Walker malformations or cerebellar hypoplasia; Changed publications: PMID: 17211639, 27075013, 22872102, 31474318","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-10-19T20:26:48.768111+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5050","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4K2A as ready","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:26:48.753615+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5050","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4k2a has been classified as Red List (Low Evidence).","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:26:39.941713+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5050","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PI4K2A was added\ngene: PI4K2A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4K2A were set to 32418222\nPhenotypes for gene: PI4K2A were set to Cutis laxa, intellectual disability, movement disorder\nReview for gene: PI4K2A was set to RED\nAdded comment: Single individual reported with homozygous missense variant and functional data including mouse model. \nSources: Literature","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:25:34.383047+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PI4K2A as ready","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:25:34.375145+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pi4k2a has been classified as Red List (Low Evidence).","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:25:24.809605+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PI4K2A was added\ngene: PI4K2A was added to Aortopathy_Connective Tissue Disorders. Sources: Literature\nMode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PI4K2A were set to 32418222\nPhenotypes for gene: PI4K2A were set to Cutis laxa, intellectual disability, movement disorder\nReview for gene: PI4K2A was set to RED\nAdded comment: Single individual reported with homozygous missense variant and functional data including mouse model. \nSources: Literature","entity_name":"PI4K2A","entity_type":"gene"},{"created":"2020-10-19T20:12:05.681963+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR5A1 as ready","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:12:05.674179+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr5a1 has been classified as Green List (High Evidence).","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:11:59.377343+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5049","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR5A1 were changed from  to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:11:39.630135+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5048","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR5A1 were set to ","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:11:19.172182+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5047","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:10:45.585867+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5046","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: Adrenocortical insufficiency, (MIM#612964), 46, XX sex reversal 4, (MIM# 617480), Premature ovarian failure 7, (MIM#612964), Spermatogenic failure 8, (MIM#613957), 46XY sex reversal 3, (MIM#612965); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:09:35.520630+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NR5A1 as ready","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:09:35.512169+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nr5a1 has been classified as Green List (High Evidence).","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:09:30.625469+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NR5A1 were changed from  to Adrenocortical insufficiency, (MIM#612964); 46, XX sex reversal 4, (MIM# 617480); Premature ovarian failure 7, (MIM#612964); Spermatogenic failure 8, (MIM#613957); 46XY sex reversal 3, (MIM#612965)","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:09:02.771633+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NR5A1 were set to ","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T20:08:34.395289+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.173","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T18:24:20.265417+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZNF469 were changed from Brittle cornea syndrome 1 to Brittle cornea syndrome 1,MIM# 229200","entity_name":"ZNF469","entity_type":"gene"},{"created":"2020-10-19T18:19:04.667304+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO4 were changed from bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation to Aortic valve disease 8, MIM# 618496; bicuspid aortic valve; ascending aortic aneurysm; ascending aorta dilatation","entity_name":"ROBO4","entity_type":"gene"},{"created":"2020-10-19T18:18:26.552456+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ROBO4: Added comment: Two families plus segregation and functional data including animal model.; Changed publications: 30455415","entity_name":"ROBO4","entity_type":"gene"},{"created":"2020-10-19T18:16:51.786130+11:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROBO4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic valve disease 8, MIM# 618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ROBO4","entity_type":"gene"},{"created":"2020-10-19T16:28:39.947254+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.172","user_name":"Ain Roesley","item_type":"entity","text":"edited their review of gene: NR5A1: Added comment: 188 variants from 238 cases. No genotype-phenotype correlation establised; Changed phenotypes: Adrenocortical insufficiency, (MIM#612964), 46, XX sex reversal 4, (MIM# 617480), Premature ovarian failure 7, (MIM#612964), Spermatogenic failure 8, (MIM#613957), 46XY sex reversal 3, (MIM#612965)","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T16:27:43.099347+11:00","panel_name":"Differences of Sex Development","panel_id":99,"panel_version":"0.172","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NR5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31513305; Phenotypes: Adrenocortical insufficiency, (MIM#612964), 46, XX sex reversal 4, (MIM# 617480), Premature ovarian failure 7, (MIM#612964), Spermatogenic failure 8, (MIM#613957), 46XY sex reversal 3, (MIM#612965), Autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NR5A1","entity_type":"gene"},{"created":"2020-10-19T15:59:03.930232+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EDN3 as ready","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:59:03.921721+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: edn3 has been classified as Green List (High Evidence).","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:59:01.345997+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EDN3 were changed from  to Central hypoventilation syndrome, congenital, MIM# 209880; Waardenburg syndrome, type 4B, MIM# 613265; {Hirschsprung disease, susceptibility to, 4}, MIM# 613712","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:58:33.504434+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EDN3 were set to ","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:58:04.710776+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.5","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EDN3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:57:35.394047+11:00","panel_name":"Hirschsprung disease","panel_id":110,"panel_version":"0.4","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EDN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8630502, 11303518, 9359047, 10231870, 30171849, 27370713; Phenotypes: Central hypoventilation syndrome, congenital, MIM# 209880, Waardenburg syndrome, type 4B, MIM# 613265, {Hirschsprung disease, susceptibility to, 4}, MIM# 613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EDN3","entity_type":"gene"},{"created":"2020-10-19T15:13:51.560098+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3083","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HECW2 were set to 27389779","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:12:38.432631+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3082","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HECW2 was changed from  to Other","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:12:00.912278+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3081","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29807643, 29395664, 27334371, 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268, intellectual disability, epilepsy, regression, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:10:57.143050+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.884","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HECW2 as ready","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:10:57.131292+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.884","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hecw2 has been classified as Green List (High Evidence).","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:10:50.503299+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.884","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HECW2 were changed from  to Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:10:21.510915+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.883","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HECW2 was changed from  to Other","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:09:58.398564+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.882","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HECW2 were set to ","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:09:29.895465+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.881","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HECW2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:08:46.474728+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.880","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29807643, 29395664, 27334371, 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268, intellectual disability, epilepsy, regression, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:08:28.309701+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HECW2 were changed from intellectual disability; epilepsy; regression; microcephaly to Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; intellectual disability; epilepsy; regression; microcephaly","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:07:43.788787+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HECW2 were set to PMID: 29395664","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:07:10.099881+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HECW2 was changed from None to Other","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:06:40.306901+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29807643, 29395664, 27334371, 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM# 617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:05:53.708897+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HECW2 as Green List (high evidence)","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:05:53.698527+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hecw2 has been classified as Green List (High Evidence).","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:04:58.761992+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5046","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HECW2 as ready","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:04:58.751540+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5046","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hecw2 has been classified as Green List (High Evidence).","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:04:07.758797+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5046","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HECW2 were set to ","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:03:43.736334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HECW2 were changed from  to Neurodevelopmental disorder with hypotonia, seizures, and absent language, MIM#\t617268; intellectual disability; epilepsy; regression; microcephaly","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:03:01.395504+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5044","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: HECW2 was changed from  to Other","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T15:02:41.482902+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5043","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HECW2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T14:40:21.614357+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.88","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-19T14:22:51.279567+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.15","user_name":"Natasha Brown","item_type":"entity","text":"Marked gene: HECW2 as ready","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T14:22:51.268818+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.15","user_name":"Natasha Brown","item_type":"entity","text":"Gene: hecw2 has been classified as Red List (Low Evidence).","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T14:21:29.961743+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"0.15","user_name":"Natasha Brown","item_type":"entity","text":"gene: HECW2 was added\ngene: HECW2 was added to Angelman Rett like syndromes. Sources: Literature\nMode of inheritance for gene: HECW2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HECW2 were set to PMID: 29395664\nPhenotypes for gene: HECW2 were set to intellectual disability; epilepsy; regression; microcephaly\nPenetrance for gene: HECW2 were set to Complete\nReview for gene: HECW2 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T14:18:46.165821+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5042","user_name":"Natasha Brown","item_type":"entity","text":"reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 29807643, 29395664, 27334371, 27389779; Phenotypes: intellectual disability, epilepsy, regression, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"HECW2","entity_type":"gene"},{"created":"2020-10-19T13:12:14.738452+11:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-10-19T13:08:04.074891+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: C9orf72 as No list","entity_name":"C9orf72","entity_type":"gene"},{"created":"2020-10-19T13:08:04.065103+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.152","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: c9orf72 has been removed from the panel.","entity_name":"C9orf72","entity_type":"gene"}]}