{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=286","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=284","results":[{"created":"2025-03-14T15:55:56.175563+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: SNORD118.","entity_name":"SNORD118","entity_type":"gene"},{"created":"2025-03-14T15:55:36.184912+11:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.87","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:55:24.709742+11:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.272","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:55:10.961879+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:54:56.774284+11:00","panel_name":"Autoinflammatory Disorders","panel_id":238,"panel_version":"2.3","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:54:43.550449+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.573","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:54:28.283180+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:54:14.556304+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.389","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:54:01.727480+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.99","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU7-1.","entity_name":"RNU7-1","entity_type":"gene"},{"created":"2025-03-14T15:53:40.629371+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.314","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:53:29.879031+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:53:10.629307+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2373","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU4ATAC were changed from Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960 to RNU4ATAC spectrum disorder MONDO:0100558; Microcephalic osteodysplastic primordial dwarfism, type I (MIM# 210710); Roifman syndrome (MIM# 616651); Lowry-Wood syndrome, MIM# 226960","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:52:39.853605+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:52:21.254096+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:51:41.997941+11:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.219","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:51:25.731929+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:51:08.622131+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:50:40.300968+11:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"1.115","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:50:25.351148+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.540","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:50:09.502288+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:49:53.504296+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:49:37.385925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:49:21.176153+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RNU4ATAC as ready","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:49:21.166062+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rnu4atac has been classified as Green List (High Evidence).","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:49:18.985149+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RNU4ATAC were changed from  to Microcephalic osteodysplastic primordial dwarfism, type I, MIM#210710; Roifman syndrome, MIM#616651","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:48:56.607770+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: RNU4ATAC was changed from  to Other","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:48:34.188955+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.226","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RNU4ATAC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:48:14.666682+11:00","panel_name":"Skeletal Dysplasia_Fetal","panel_id":28,"panel_version":"0.225","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4ATAC.","entity_name":"RNU4ATAC","entity_type":"gene"},{"created":"2025-03-14T15:47:51.842775+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4-2.","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2025-03-14T15:47:32.987370+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU4-2.","entity_name":"RNU4-2","entity_type":"gene"},{"created":"2025-03-14T15:47:09.642321+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU12.","entity_name":"RNU12","entity_type":"gene"},{"created":"2025-03-14T15:46:50.946374+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU12.","entity_name":"RNU12","entity_type":"gene"},{"created":"2025-03-14T15:46:35.050074+11:00","panel_name":"Craniosynostosis","panel_id":93,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: RNU12.","entity_name":"RNU12","entity_type":"gene"},{"created":"2025-03-14T15:46:17.320155+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: DROSHA.","entity_name":"DROSHA","entity_type":"gene"},{"created":"2025-03-14T15:46:02.006510+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: DROSHA.","entity_name":"DROSHA","entity_type":"gene"},{"created":"2025-03-14T15:45:47.951612+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.301","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: DROSHA.","entity_name":"DROSHA","entity_type":"gene"},{"created":"2025-03-14T15:45:31.451317+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: DROSHA.","entity_name":"DROSHA","entity_type":"gene"},{"created":"2025-03-14T15:42:46.064380+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEG3 as ready","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:42:46.051925+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:41:49.729360+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEG3 as Green List (high evidence)","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:41:49.719359+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.304","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:41:26.186797+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.303","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEG3 was added\ngene: MEG3 was added to Skeletal dysplasia. Sources: Expert list\nSV/CNV, non-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. Bell-shaped thorax and multiple other skeletal anomalies are a feature. \nSources: Expert list","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:39:24.959037+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEG3 as ready","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:39:24.951860+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:39:19.004518+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEG3 as Green List (high evidence)","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:39:18.990506+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:38:54.433272+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.82","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEG3 was added\ngene: MEG3 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Expert list","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:37:32.054399+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEG3 as ready","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:37:32.047577+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:37:24.746162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEG3 as Green List (high evidence)","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:37:24.735433+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2372","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:37:09.774387+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2371","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEG3 was added\ngene: MEG3 was added to Mendeliome. Sources: Literature\nSV/CNV, non-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM# 608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Literature","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:35:18.858553+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MEG3 as ready","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:35:18.848434+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:35:13.938513+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: MEG3.","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:35:06.267919+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MEG3 as Green List (high evidence)","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:35:06.260806+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.5","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: meg3 has been classified as Green List (High Evidence).","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:34:26.136046+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.4","user_name":"Zornitza Stark","item_type":"entity","text":"gene: MEG3 was added\ngene: MEG3 was added to Imprinting disorders. Sources: Expert list\nnon-coding gene tags were added to gene: MEG3.\nMode of inheritance for gene: MEG3 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: MEG3 were set to 33010492; 33746039; 33067531; 38212313\nPhenotypes for gene: MEG3 were set to Kagami-Ogata syndrome, MIM#\t608149\nReview for gene: MEG3 was set to GREEN\nAdded comment: Small deletions of MAG3 reported in multiple patients as one of the mechanisms of disease. \nSources: Expert list","entity_name":"MEG3","entity_type":"gene"},{"created":"2025-03-14T15:28:03.843150+11:00","panel_name":"BabyScreen+ newborn screening","panel_id":3931,"panel_version":"1.116","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:27:47.266858+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.313","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:27:30.854224+11:00","panel_name":"Imprinting disorders","panel_id":3663,"panel_version":"1.3","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:27:12.049148+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:26:55.144600+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:26:35.870444+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:26:17.635424+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Tag non-coding gene tag was added to gene: H19.","entity_name":"H19","entity_type":"gene"},{"created":"2025-03-14T15:19:08.955753+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP54 as Amber List (moderate evidence)","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:19:08.949100+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2370","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap54 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:18:54.014130+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2369","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 26224312, 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, HCiliary dyskinesia, primary, 54, MIM# 621125","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:12:34.513927+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CFAP54 were changed from Spermatogenic failure 98, MIM# 621124; Hydrocephalus, male infertility, mucus accumulation to Spermatogenic failure 98, MIM# 621124; Ciliary dyskinesia, primary, 54, MIM# 621125","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:12:11.629589+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.46","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CFAP54 were set to PMID: 26224312; 36593121","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:11:47.817134+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CFAP54 as Amber List (moderate evidence)","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:11:47.810485+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.45","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cfap54 has been classified as Amber List (Moderate Evidence).","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:10:53.447183+11:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"1.44","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CFAP54: Added comment: PMID 37725231: three probands from two families with PCD, supportive mouse models x2.; Changed rating: AMBER; Changed publications: 36593121, 37725231; Changed phenotypes: Spermatogenic failure 98, MIM# 621124, Ciliary dyskinesia, primary, 54, MIM# 621125","entity_name":"CFAP54","entity_type":"gene"},{"created":"2025-03-14T15:08:18.290245+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T15:07:49.475584+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.80","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T15:05:59.404606+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.119","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T15:05:28.854421+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.118","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T14:54:14.487744+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2369","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PPFIA3 were changed from Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related to Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T14:53:55.277206+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2368","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PPFIA3: Changed phenotypes: Paul-Chao neurodevelopmental syndrome, MIM# 621122","entity_name":"PPFIA3","entity_type":"gene"},{"created":"2025-03-14T12:49:09.734394+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: None; Publications: 38549403, 27540107, 29652087, 34982360; Phenotypes: Microcephaly 10, primary, autosomal recessive, MIM# 615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZNF335","entity_type":"gene"},{"created":"2025-03-14T12:42:59.550576+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: XPNPEP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 20179356, 32660933; Phenotypes: Nephronophthisis-like nephropathy 1, MIM# 613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"XPNPEP3","entity_type":"gene"},{"created":"2025-03-14T12:12:54.386948+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: None; Publications: 25466283, 26123727, 25873735, 26070982, 30315938; Phenotypes: Galloway-Mowat syndrome 1, MIM# 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WDR73","entity_type":"gene"},{"created":"2025-03-14T12:07:57.850335+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lauren Thomas","item_type":"entity","text":"reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 37692084, 19533689, 29758347, 19006247; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS13B","entity_type":"gene"},{"created":"2025-03-13T14:50:51.876454+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: HEXA as ready","entity_name":"HEXA","entity_type":"gene"},{"created":"2025-03-13T14:50:51.850288+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lilian Downie","item_type":"entity","text":"Gene: hexa has been classified as Green List (High Evidence).","entity_name":"HEXA","entity_type":"gene"},{"created":"2025-03-13T14:50:23.712350+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1586","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: HEXA were set to ","entity_name":"HEXA","entity_type":"gene"},{"created":"2025-03-13T14:49:23.095715+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1585","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: HMGCS2 as ready","entity_name":"HMGCS2","entity_type":"gene"},{"created":"2025-03-13T14:49:23.089210+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1585","user_name":"Lilian Downie","item_type":"entity","text":"Gene: hmgcs2 has been classified as Green List (High Evidence).","entity_name":"HMGCS2","entity_type":"gene"},{"created":"2025-03-13T14:49:17.603492+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1585","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: HMGCS2 were set to ","entity_name":"HMGCS2","entity_type":"gene"},{"created":"2025-03-13T14:48:33.056524+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1584","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: HOGA1 were set to 31123811","entity_name":"HOGA1","entity_type":"gene"},{"created":"2025-03-13T14:44:12.885417+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1583","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: IGF1R as ready","entity_name":"IGF1R","entity_type":"gene"},{"created":"2025-03-13T14:44:12.869855+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1583","user_name":"Lilian Downie","item_type":"entity","text":"Gene: igf1r has been classified as Green List (High Evidence).","entity_name":"IGF1R","entity_type":"gene"},{"created":"2025-03-13T14:43:56.888570+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1583","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: IGF1R were set to ","entity_name":"IGF1R","entity_type":"gene"},{"created":"2025-03-13T14:43:20.529658+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1582","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: IQSEC2 as ready","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2025-03-13T14:43:20.521726+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1582","user_name":"Lilian Downie","item_type":"entity","text":"Gene: iqsec2 has been classified as Green List (High Evidence).","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2025-03-13T14:43:15.811272+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1582","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: IQSEC2 were set to ","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2025-03-13T14:42:26.857243+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1581","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: KDM5C as ready","entity_name":"KDM5C","entity_type":"gene"},{"created":"2025-03-13T14:42:26.845281+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1581","user_name":"Lilian Downie","item_type":"entity","text":"Gene: kdm5c has been classified as Green List (High Evidence).","entity_name":"KDM5C","entity_type":"gene"},{"created":"2025-03-13T14:42:18.144284+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1581","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: KDM5C were set to ","entity_name":"KDM5C","entity_type":"gene"},{"created":"2025-03-13T14:41:35.839958+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.1580","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: L1CAM as ready","entity_name":"L1CAM","entity_type":"gene"}]}