{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=172","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=170","results":[{"created":"2025-09-10T13:04:45.638475+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CREB3 as Amber List (moderate evidence)","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:04:45.621903+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3 has been classified as Amber List (Moderate Evidence).","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:04:38.279092+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CREB3.","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:04:30.238106+10:00","panel_name":"Retinitis pigmentosa_Autosomal Recessive/X-linked","panel_id":277,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:04:04.792486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CREB3 as ready","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:04:04.784757+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3 has been classified as Amber List (Moderate Evidence).","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:03:57.246065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CREB3 as Amber List (moderate evidence)","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:03:57.239028+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: creb3 has been classified as Amber List (Moderate Evidence).","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:03:02.653020+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CREB3.","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:02:51.323487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CREB3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CREB3","entity_type":"gene"},{"created":"2025-09-10T13:00:30.037116+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPO1 as ready","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T13:00:30.018503+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpo1 has been classified as Green List (High Evidence).","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T13:00:23.123244+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XPO1 as Green List (high evidence)","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T13:00:23.116415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpo1 has been classified as Green List (High Evidence).","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T13:00:04.933975+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: XPO1 as ready","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T13:00:04.925510+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpo1 has been classified as Green List (High Evidence).","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T12:59:57.353445+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: XPO1 as Green List (high evidence)","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T12:59:57.346917+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: xpo1 has been classified as Green List (High Evidence).","entity_name":"XPO1","entity_type":"gene"},{"created":"2025-09-10T12:35:20.665118+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPPA were set to 18614783; 20064500; 31034774; 31077706","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:34:49.202362+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:34:24.487834+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NPPA: Added comment: PMID 40838933: young adult with AF and homozygous missense variant in this gene p.Arg150Gln. Another 14 cases with same homozygous variant identified in literature, PMIDs 23275345. Biallelic disease may be specific to this variant.; Changed rating: AMBER; Changed publications: 23275345, 40838933; Changed phenotypes: Atrial fibrillation, familial, 6, (MIM#612201); Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:32:15.951324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3047","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPPA were set to 18614783; 20064500; 31034774; 31077706","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:32:02.541888+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3046","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPPA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:31:35.561229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3045","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: PMID 40838933: young adult with AF and homozygous missense variant in this gene. Another 14 cases with same homozygous variant identified in literature, PMIDs 23275345. Biallelic disease may be specific to this variant.; to: PMID 40838933: young adult with AF and homozygous missense variant in this gene p.Arg150Gln. Another 14 cases with same homozygous variant identified in literature, PMIDs 23275345. Biallelic disease may be specific to this variant.","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:31:14.267369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3045","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NPPA: Added comment: PMID 40838933: young adult with AF and homozygous missense variant in this gene. Another 14 cases with same homozygous variant identified in literature, PMIDs 23275345. Biallelic disease may be specific to this variant.; Changed publications: 18614783, 20064500, 31034774, 31077706, 40838933, 23275345; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"NPPA","entity_type":"gene"},{"created":"2025-09-10T12:25:29.155555+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNLIP as ready","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:25:29.148289+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnlip has been classified as Amber List (Moderate Evidence).","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:25:23.977375+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNLIP as Amber List (moderate evidence)","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:25:23.970368+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnlip has been classified as Amber List (Moderate Evidence).","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:24:40.718297+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PNLIP was added\ngene: PNLIP was added to Congenital Diarrhoea. Sources: Expert Review\nMode of inheritance for gene: PNLIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308; 40840699\nPhenotypes for gene: PNLIP were set to Pancreatic lipase deficiency MIM#614338\nReview for gene: PNLIP was set to AMBER\nAdded comment: PMID 40840699: Six children from four Amish families with novel homozygous PNLIP variant, c.869G>A (p.S290N) and CPLD symptoms. Computational modeling showed that p.Ser290 is highly conserved across species and the variant causes steric hindrance resulting in protein misfolding. Functional assays revealed that the PNLIP variant had a complete loss of activity compared to the wild type (WT), with defects in catalytic function and secretion. Immunoblotting showed reduced PNLIP variant in the medium and increased accumulation in the detergent-insoluble fraction consistent with protein misfolding. Variant-expressing cells had elevated levels of BiP, an ER stress marker, and increased Xbp1 mRNA splicing, suggesting an elevated ER stress and unfolded protein response (UPR).\r\n\r\nPrevious reports: 4 cases from 2 unrelated families, with supporting biochemical assays in patient cells and cellular-based assays. The cases have decreased absorption of dietary fat and greasy voluminous stools, but apparent normal development and an overall good state of health.\r\n\r\nAMBER rating as not quite as severe as the other conditions included in this panel. \nSources: Expert Review","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:21:21.539207+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNLIP as Green List (high evidence)","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:21:21.532244+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnlip has been classified as Green List (High Evidence).","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T12:21:11.537843+10:00","panel_name":"Dyslipidaemia","panel_id":332,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40840699; Phenotypes: Pancreatic lipase deficiency MIM#614338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T11:02:00.979980+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3045","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PNLIP were set to 31977950; 25862608; 24262094; 27604308","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T11:01:27.207176+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3044","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PNLIP as Green List (high evidence)","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T11:01:27.198396+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3044","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnlip has been classified as Green List (High Evidence).","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-10T11:01:11.970406+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3043","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNLIP: Rating: GREEN; Mode of pathogenicity: None; Publications: 40840699; Phenotypes: Pancreatic lipase deficiency MIM#614338; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PNLIP","entity_type":"gene"},{"created":"2025-09-09T18:56:11.359525+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3043","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ATP5A1 as Green List (high evidence)","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2025-09-09T18:56:11.348104+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3043","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atp5a1 has been classified as Green List (High Evidence).","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2025-09-09T18:55:48.004040+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3042","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP5A1: Added comment: PMID 40859057: 6 probands with heterozygous de novo missense ATP5F1A variants that presented with developmental delay, intellectual disability, and movement disorders. Functional data.; Changed rating: GREEN; Changed publications: 23599390, 40859057","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2025-09-09T18:54:48.462187+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3042","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ATP5A1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ATP5A1","entity_type":"gene"},{"created":"2025-09-09T18:51:59.384388+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCG1 were set to PMID: 37422272","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:51:34.601641+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCG1 as Green List (high evidence)","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:51:34.593738+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcg1 has been classified as Green List (High Evidence).","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:51:11.885310+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCG1: Added comment: PMID 40862571: seven individuals with heterozygous missense variants in PLCG1 [p.(Asp1019Gly), p.(His380Arg), p.(Asp1165Gly), and p.(Leu597Phe)] presenting with hearing impairment (5/7), ocular pathology (4/7), cardiac septal defects (3/6), and various immunological issues (5/7). Further functional work in Drosophila on some of the variants investigating GoF effect.; Changed rating: GREEN; Changed publications: 37422272, 40862571","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:50:01.287241+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3042","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLCG1 were set to 37422272","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:49:43.252899+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3041","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLCG1 as Green List (high evidence)","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:49:43.241608+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3041","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plcg1 has been classified as Green List (High Evidence).","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:49:22.034717+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3040","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PLCG1: Added comment: PMID 40862571: seven individuals with heterozygous missense variants in PLCG1 [p.(Asp1019Gly), p.(His380Arg), p.(Asp1165Gly), and p.(Leu597Phe)] presenting with hearing impairment (5/7), ocular pathology (4/7), cardiac septal defects (3/6), and various immunological issues (5/7). Further functional work in Drosophila on some of the variants investigating GoF effect.; Changed rating: GREEN; Changed publications: 37422272, 40862571","entity_name":"PLCG1","entity_type":"gene"},{"created":"2025-09-09T18:39:42.656486+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KNG1 as Green List (high evidence)","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:39:42.649368+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3040","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kng1 has been classified as Green List (High Evidence).","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:39:26.597343+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3039","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KNG1: Added comment: PMID 40848077: Two more individuals reported with LoF variants as part of a large angioedema cohort.; Changed rating: GREEN; Changed publications: 31087670, 33114181, 40848077","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:38:52.640784+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KNG1 as Green List (high evidence)","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:38:52.631161+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kng1 has been classified as Green List (High Evidence).","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:38:32.561422+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KNG1: Changed rating: GREEN","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:38:16.036344+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KNG1 were set to 31087670; 33114181","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:37:46.258490+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: KNG1: Added comment: PMID 40848077: Two more individuals reported with LoF variants as part of a large angioedema cohort.; Changed publications: 31087670, 33114181, 40848077","entity_name":"KNG1","entity_type":"gene"},{"created":"2025-09-09T18:34:58.354044+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3039","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYOF as Amber List (moderate evidence)","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:34:58.343676+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3039","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myof has been classified as Amber List (Moderate Evidence).","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:34:44.489579+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3038","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYOF: Added comment: PMID 40848077: four more missense variants reported as part of a cohort, no further supportive data. Upgrade to Amber.; Changed rating: AMBER; Changed publications: 32542751, 40797221, 40848077","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:34:06.247571+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MYOF were set to 32542751; 40797221","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:33:43.603019+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MYOF as Amber List (moderate evidence)","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:33:43.592895+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: myof has been classified as Amber List (Moderate Evidence).","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:26:28.527247+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYOF: Changed rating: AMBER","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:26:21.057676+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MYOF: Added comment: PMID 40848077: four more missense variants reported as part of a cohort, no further supportive data. Upgrade to Amber.; Changed publications: 32542751, 40797221, 40848077","entity_name":"MYOF","entity_type":"gene"},{"created":"2025-09-09T18:25:38.123880+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HS3ST6 were set to 33508266","entity_name":"HS3ST6","entity_type":"gene"},{"created":"2025-09-09T18:25:05.516160+10:00","panel_name":"Hereditary angioedema","panel_id":226,"panel_version":"1.6","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: HS3ST6: Added comment: PMID 40848077: reports additional patient with missense variant but no further supportive data.; Changed publications: 33508266, 40848077","entity_name":"HS3ST6","entity_type":"gene"},{"created":"2025-09-09T18:17:28.493528+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3038","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ETS1 were changed from Neurodevelopmental disorder, MONDO:0700092, ETS1-related to Neurodevelopmental disorder, MONDO:0700092, ETS1-related; Familial dilated cardiomyopathy, MONDO:0016333, ETS1-related","entity_name":"ETS1","entity_type":"gene"},{"created":"2025-09-09T18:17:04.919018+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3037","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ETS1: Added comment: PMID 40870883: Single multiplex family reported with LoF variant and DCM.; Changed publications: 31160359, 40870883; Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, ETS1-related, Familial dilated cardiomyopathy, MONDO:0016333, ETS1-related","entity_name":"ETS1","entity_type":"gene"},{"created":"2025-09-09T18:16:03.430170+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ETS1 as ready","entity_name":"ETS1","entity_type":"gene"},{"created":"2025-09-09T18:16:03.419593+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ets1 has been classified as Red List (Low Evidence).","entity_name":"ETS1","entity_type":"gene"},{"created":"2025-09-09T18:15:54.166621+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETS1 was added\ngene: ETS1 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: ETS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ETS1 were set to 40870883\nPhenotypes for gene: ETS1 were set to Familial dilated cardiomyopathy, MONDO:0016333, ETS1-related\nReview for gene: ETS1 was set to RED\nAdded comment: Single multiplex family reported with LoF variant and DCM. \nSources: Literature","entity_name":"ETS1","entity_type":"gene"},{"created":"2025-09-09T18:11:29.464404+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3037","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN3B as ready","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:11:29.457448+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3037","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:11:25.674380+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3037","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN3B as Amber List (moderate evidence)","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:11:25.645978+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3037","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:10:50.442180+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN3B as ready","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:10:50.435221+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:10:41.184330+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCN3B as Amber List (moderate evidence)","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:10:41.177373+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn3b has been classified as Amber List (Moderate Evidence).","entity_name":"SCN3B","entity_type":"gene"},{"created":"2025-09-09T18:06:09.091820+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.355","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3H were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, POLR3H-related","entity_name":"POLR3H","entity_type":"gene"},{"created":"2025-09-09T18:05:59.777897+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POLR3H: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Primary ovarian insufficiency MONDO:0005387, POLR3H-related; Mode of inheritance: None","entity_name":"POLR3H","entity_type":"gene"},{"created":"2025-09-09T18:05:33.839560+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3036","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLR3H were changed from Primary ovarian insufficiency to Primary ovarian insufficiency MONDO:0005387, POLR3H-related","entity_name":"POLR3H","entity_type":"gene"},{"created":"2025-09-09T18:03:34.191522+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.354","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU5F1 were changed from Premature ovarian failure to Primary ovarian insufficiency MONDO:0005387, POU5F1-related","entity_name":"POU5F1","entity_type":"gene"},{"created":"2025-09-09T18:03:21.105038+10:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.353","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: POU5F1: Changed phenotypes: Primary ovarian insufficiency MONDO:0005387, POU5F1-related","entity_name":"POU5F1","entity_type":"gene"},{"created":"2025-09-09T18:03:00.587882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3035","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POU5F1 were changed from Premature ovarian failure to Primary ovarian insufficiency MONDO:0005387, POU5F1-related","entity_name":"POU5F1","entity_type":"gene"},{"created":"2025-09-09T17:29:10.220548+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3034","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPARA were changed from {Hyperapobetalipoproteinemia, susceptibility to} to Cholesterol metabolism disease MONDO:0045008, PPARA-related","entity_name":"PPARA","entity_type":"gene"},{"created":"2025-09-09T17:27:43.473163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3033","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TCFL5 as ready","entity_name":"TCFL5","entity_type":"gene"},{"created":"2025-09-09T17:27:43.465926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3033","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tcfl5 has been classified as Red List (Low Evidence).","entity_name":"TCFL5","entity_type":"gene"},{"created":"2025-09-09T17:27:14.596451+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3033","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TCFL5 were changed from Oligoasthenoteratozoospermia MONDO:0850098 to Oligoasthenoteratozoospermia MONDO:0850098, TCFL5-related","entity_name":"TCFL5","entity_type":"gene"},{"created":"2025-09-09T17:26:06.985804+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3032","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS6 as ready","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:26:06.974165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3032","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts6 has been classified as Green List (High Evidence).","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:26:01.429872+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3032","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS6 were changed from Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453 to Connective tissue disorder MONDO:0003900, ADAMTS6-related","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:25:38.751043+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS6 as ready","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:25:38.740651+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts6 has been classified as Green List (High Evidence).","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:25:03.924947+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS6 were changed from Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453 to Connective tissue disorder MONDO:0003900, ADAMTS6-related","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:24:30.501170+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADAMTS6 as ready","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:24:30.490947+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adamts6 has been classified as Green List (High Evidence).","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:24:27.096778+10:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.454","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADAMTS6 were changed from Aortic aneurysm MONDO:0005160; Connective tissue disorder MONDO:0003900; Congenital heart disease MONDO:0005453 to Connective tissue disorder MONDO:0003900, ADAMTS6-related","entity_name":"ADAMTS6","entity_type":"gene"},{"created":"2025-09-09T17:19:21.487693+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.998","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MT-TT were changed from Mitochondrial disease (MONDO:0044970), MT-TT-related to Mitochondrial disease (MONDO:0044970), MT-TT-related","entity_name":"MT-TT","entity_type":"gene"}]}