{"count":220488,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=81","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=79","results":[{"created":"2025-12-19T15:23:36.109530+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.521","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37430-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:23:35.713342+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.521","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37430-Gain was added\nRegion: ISCA-37430-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37430-Gain.\nMode of inheritance for Region: ISCA-37430-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37430-Gain were set to Chromosome 17p13.3 duplication syndrome, centromeric, MIM#613215; intellectual disability","entity_name":"ISCA-37430-Gain","entity_type":"region"},{"created":"2025-12-19T15:20:54.431240+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:20:54.276522+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.381","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T15:20:14.632774+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.520","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:20:14.178182+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.520","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T15:19:32.806691+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.88","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:19:32.760211+11:00","panel_name":"Growth failure","panel_id":3631,"panel_version":"1.88","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Growth failure. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T15:19:32.369951+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.317","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37429-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:19:32.070521+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.317","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37429-Loss was added\nRegion: ISCA-37429-Loss was added to Genetic Epilepsy. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37429-Loss.\nMode of inheritance for Region: ISCA-37429-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for Region: ISCA-37429-Loss were set to Wolf-Hirschhorn syndrome, MIM#\t194190; intellectual disability; growth retardation; seizures; dysmorphic features","entity_name":"ISCA-37429-Loss","entity_type":"region"},{"created":"2025-12-19T15:18:52.449333+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.17","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:18:52.145756+11:00","panel_name":"Overgrowth","panel_id":151,"panel_version":"1.17","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Overgrowth. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T15:17:58.196858+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:17:58.037230+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.155","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T15:17:20.474278+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.519","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37425-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:17:20.076666+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.519","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37425-Loss was added\nRegion: ISCA-37425-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Loss.\nMode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Loss were set to 23190751; 19596467\nPhenotypes for Region: ISCA-37425-Loss were set to Sotos syndrome, chromosome 5q35 deletion; intellectual disability; overgrowth","entity_name":"ISCA-37425-Loss","entity_type":"region"},{"created":"2025-12-19T15:15:28.692269+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.380","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:15:28.507703+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.380","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Microcephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Gain.\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Gain were set to 24819041\nPhenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T15:14:49.406177+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.518","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37425-Gain from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:14:49.026927+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.518","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37425-Gain was added\nRegion: ISCA-37425-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37425-Gain.\nMode of inheritance for Region: ISCA-37425-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37425-Gain were set to 24819041\nPhenotypes for Region: ISCA-37425-Gain were set to Chromosome 5q35 duplication syndrome; microcephaly; failure to thrive; seizures","entity_name":"ISCA-37425-Gain","entity_type":"region"},{"created":"2025-12-19T15:13:58.500900+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.154","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:13:58.341413+11:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.154","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37424-Loss was added\nRegion: ISCA-37424-Loss was added to Macrocephaly_Megalencephaly. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37424-Loss.\nMode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37424-Loss were set to 20345475; 25846706\nPhenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T15:13:20.320729+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.517","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37424-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:13:19.934121+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.517","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37424-Loss was added\nRegion: ISCA-37424-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37424-Loss.\nMode of inheritance for Region: ISCA-37424-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37424-Loss were set to 20345475; 25846706\nPhenotypes for Region: ISCA-37424-Loss were set to Chromosome 10q22.3q23.2 deletion syndrome (LCR-3/4-flanked); intellectual disability; autism; macrocephaly","entity_name":"ISCA-37424-Loss","entity_type":"region"},{"created":"2025-12-19T15:12:42.744181+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.517","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:12:42.389527+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.517","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37423-Loss was added\nRegion: ISCA-37423-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37423-Loss.\nMode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981\nPhenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T15:11:53.135944+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.513","user_name":"Sarah Milton","item_type":"panel","text":"Copied Region ISCA-37423-Loss from panel Common deletion and duplication syndromes","entity_name":null,"entity_type":null},{"created":"2025-12-19T15:11:52.984229+11:00","panel_name":"Congenital Heart Defect","panel_id":76,"panel_version":"0.513","user_name":"Sarah Milton","item_type":"entity","text":"Region: ISCA-37423-Loss was added\nRegion: ISCA-37423-Loss was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list\nSV/CNV tags were added to Region: ISCA-37423-Loss.\nMode of inheritance for Region: ISCA-37423-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for Region: ISCA-37423-Loss were set to 23696316; 23011633; 20969981\nPhenotypes for Region: ISCA-37423-Loss were set to 8p23.1 deletion syndrome; congenital heart disease; developmental delay","entity_name":"ISCA-37423-Loss","entity_type":"region"},{"created":"2025-12-19T12:45:28.859434+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.580","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:45:28.848959+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.580","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:45:01.733882+11:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.579","user_name":"Rylee Peters","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Callosome. Sources: Literature\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700\nReview for gene: KIF21A was set to GREEN\nAdded comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). \nSources: Literature","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:44:34.325345+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.49","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:44:34.317887+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.49","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:44:15.499158+11:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"1.48","user_name":"Rylee Peters","item_type":"entity","text":"gene: KIF21A was added\ngene: KIF21A was added to Hereditary Neuropathy - complex. Sources: Literature\nMode of inheritance for gene: KIF21A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIF21A were set to 37921537; 39643435; 41282472; 32141982; 24715754; 36494820; 22699964\nPhenotypes for gene: KIF21A were set to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700\nReview for gene: KIF21A was set to GREEN\nAdded comment: Autosomal dominant congenital fibrosis of extraocular muscles (CFEOM) is well established. This autosomal dominant condition is also associated with a spectrum of severity as a more complex disorder has also been reported in the literature including brain MRI anomalies, ataxia, peripheral neuropathy, contractures, facial weakness, delayed speech/motor development; intellectual disability has been reported in only 2 individuals (PMIDs: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964). \nSources: Literature","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:36:31.214698+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.5","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related","entity_name":"KIF26B","entity_type":"gene"},{"created":"2025-12-19T12:36:05.271888+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"1.94","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related","entity_name":"KIF26B","entity_type":"gene"},{"created":"2025-12-19T12:35:57.000326+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.516","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1, MIM#135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:35:29.963591+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.489","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related","entity_name":"KIF26B","entity_type":"gene"},{"created":"2025-12-19T12:35:24.604382+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.379","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related","entity_name":"KIF26B","entity_type":"gene"},{"created":"2025-12-19T12:35:10.306599+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.515","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Amber List (moderate evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:35:10.297127+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.515","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Amber List (Moderate Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:34:41.052262+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3833","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF26B were changed from Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis to Multiple congenital anomalies MONDO:0019042, KIF26B-related","entity_name":"KIF26B","entity_type":"gene"},{"created":"2025-12-19T12:34:37.118169+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.514","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: KIF21A: Rating: AMBER; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:53.830886+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.488","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:43.707095+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.487","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: KIF21A were set to PMID: 34740919","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:28.865286+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.486","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:28.854875+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.486","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:26.066057+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:26.042134+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:08.895801+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:29:08.884494+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.8","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:28:51.466174+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.7","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:28:31.750774+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.7","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: KIF21A were set to PMID: 34740919","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:28:14.115899+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.7","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:28:14.107089+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.7","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:27:30.587537+11:00","panel_name":"Multiple pterygium syndrome_Fetal akinesia sequence","panel_id":139,"panel_version":"1.6","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene KIF21A from panel Arthrogryposis","entity_name":null,"entity_type":null},{"created":"2025-12-19T12:27:30.277588+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.4","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:26:52.315670+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.485","user_name":"Rylee Peters","item_type":"panel","text":"Added reviews for gene KIF21A from panel Arthrogryposis","entity_name":null,"entity_type":null},{"created":"2025-12-19T12:25:09.032079+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.3","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: KIF21A were set to PMID: 34740919","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:24:11.317904+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.514","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related","entity_name":"KIF21B","entity_type":"gene"},{"created":"2025-12-19T12:23:44.990569+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.2","user_name":"Rylee Peters","item_type":"entity","text":"Classified gene: KIF21A as Green List (high evidence)","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:23:44.980537+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.2","user_name":"Rylee Peters","item_type":"entity","text":"Gene: kif21a has been classified as Green List (High Evidence).","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:23:29.352187+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.378","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related","entity_name":"KIF21B","entity_type":"gene"},{"created":"2025-12-19T12:23:02.549916+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.484","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF21B were changed from Neurodevelopmental disorder, MONDO:0700092; Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related","entity_name":"KIF21B","entity_type":"gene"},{"created":"2025-12-19T12:22:53.598885+11:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"1.1","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 34740919, 32686171; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:22:25.527618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3832","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF21B were changed from Global developmental delay; Intellectual disability; Abnormality of brain morphology; Microcephaly to Neurodevelopmental disorder MONDO:0700092, KIF21B-related","entity_name":"KIF21B","entity_type":"gene"},{"created":"2025-12-19T12:19:22.586509+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3831","user_name":"Rylee Peters","item_type":"entity","text":"Phenotypes for gene: KIF21A were changed from Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 to Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700; Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:18:45.371281+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3830","user_name":"Rylee Peters","item_type":"entity","text":"Publications for gene: KIF21A were set to 15621876; 15223798; 15621877; 18332320; 28930843; 27513105; 26190014; 24656932","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:18:11.161324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3829","user_name":"Rylee Peters","item_type":"entity","text":"Mode of inheritance for gene: KIF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:17:15.293549+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3828","user_name":"Rylee Peters","item_type":"entity","text":"reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 39643435, 41282472, 32141982, 24715754, 36494820, 22699964, 34740919, 32686171; Phenotypes: Fibrosis of extraocular muscles, congenital, 1/3B, MIM#135700, Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"KIF21A","entity_type":"gene"},{"created":"2025-12-19T12:11:40.516707+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.54","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related","entity_name":"KIF17","entity_type":"gene"},{"created":"2025-12-19T12:10:42.757057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3828","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIF17 were changed from Microphthalmia; Coloboma to Microphthalmia, isolated, with coloboma MONDO:0000170, KIF17-related","entity_name":"KIF17","entity_type":"gene"},{"created":"2025-12-19T12:06:36.868868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3827","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KIAA1217 were changed from Vertebral anomalies, syndromic and non-syndromic to Skeletal system disorder MONDO:0005172, KIAA1217-related","entity_name":"KIAA1217","entity_type":"gene"},{"created":"2025-12-19T11:20:27.618086+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.310","user_name":"Krithika Murali","item_type":"entity","text":"Classified gene: DDX11 as Green List (high evidence)","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-12-19T11:20:27.608001+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.310","user_name":"Krithika Murali","item_type":"entity","text":"Gene: ddx11 has been classified as Green List (High Evidence).","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-12-19T11:19:52.588576+11:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.309","user_name":"Krithika Murali","item_type":"entity","text":"gene: DDX11 was added\ngene: DDX11 was added to Deafness_IsolatedAndComplex. Sources: Literature\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DDX11 were set to PMID: 31169992\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome - MIM#613398\nReview for gene: DDX11 was set to GREEN\nAdded comment: Sensorineural hearing loss is part of the phenotypic spectrum \nSources: Literature","entity_name":"DDX11","entity_type":"gene"},{"created":"2025-12-18T17:09:43.917968+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3826","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related","entity_name":"KHDRBS1","entity_type":"gene"},{"created":"2025-12-18T17:09:18.204530+11:00","panel_name":"Primary Ovarian Insufficiency_Premature Ovarian Failure","panel_id":3166,"panel_version":"0.392","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KHDRBS1 were changed from Premature ovarian failure to Premature ovarian failure MONDO:0005387, KHDRBS1-related","entity_name":"KHDRBS1","entity_type":"gene"},{"created":"2025-12-18T17:08:13.254196+11:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.406","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related","entity_name":"KDM7A","entity_type":"gene"},{"created":"2025-12-18T17:07:21.371699+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3825","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KDM7A were changed from Cerebral palsy to Cerebral palsy MONDO:0006497, KDM7A-related","entity_name":"KDM7A","entity_type":"gene"},{"created":"2025-12-18T17:06:27.487538+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.513","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related","entity_name":"KCTD3","entity_type":"gene"},{"created":"2025-12-18T17:05:58.264766+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.316","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related","entity_name":"KCTD3","entity_type":"gene"},{"created":"2025-12-18T17:05:16.141812+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3824","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCTD3 were changed from Epilepsy; Intellectual disability; Posterior fossa abnormalities to Neurodevelopmental disorder MONDO:0700092, KCTD3-related","entity_name":"KCTD3","entity_type":"gene"},{"created":"2025-12-18T17:03:44.619428+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3823","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNT1 were changed from Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Epileptic encephalopathy, early infantile, 14, MIM# 614959 to Epilepsy, nocturnal frontal lobe, 5, MIM# 615005; Developmental and epileptic encephalopathy 14 MIM# 614959","entity_name":"KCNT1","entity_type":"gene"},{"created":"2025-12-18T17:01:41.979275+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3822","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNQ2 were changed from Epileptic encephalopathy, early infantile, 7, 613720; Seizures, benign neonatal, 1, 121200; Myokymia, 121200 to Developmental and epileptic encephalopathy 7 MIM#613720; Seizures, benign neonatal, 1, MIM#121200; Myokymia, MIM#121200","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2025-12-18T16:59:12.062336+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3821","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: KCNMA1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Mode of inheritance: None","entity_name":"KCNMA1","entity_type":"gene"},{"created":"2025-12-18T16:58:27.903384+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3821","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNMA1 were changed from Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729 to Generalized epilepsy-paroxysmal dyskinesia syndrome MONDO:0012276; Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, MIM# 609446; Cerebellar atrophy, developmental delay, and seizures, MIM# 617643; Liang-Wang syndrome, MIM# 618729","entity_name":"KCNMA1","entity_type":"gene"},{"created":"2025-12-18T16:55:31.458201+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3820","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNJ8 were changed from Cantú Syndrome to Brugada syndrome 1 MONDO:0011001, KCNJ8-related; Hypertrichotic osteochondrodysplasia Cantu type MONDO:0009406, KCNJ8-related","entity_name":"KCNJ8","entity_type":"gene"},{"created":"2025-12-18T16:31:22.159666+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3819","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNH1 were changed from Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500; Intellectual disability; Encephalopathy without features of TBS/ZLS to KCNH1 associated disorder MONDO:0100485; Temple-Baraitser syndrome, OMIM:611816; Zimmermann-Laband syndrome 1, OMIM:135500","entity_name":"KCNH1","entity_type":"gene"},{"created":"2025-12-18T16:30:52.264264+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3818","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: KCNH1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: KCNH1 associated disorder MONDO:0100485; Mode of inheritance: None","entity_name":"KCNH1","entity_type":"gene"},{"created":"2025-12-18T16:29:15.565277+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3818","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNE5 were changed from Atrial fibrillation; Brugada syndrome, MONDO:0015263 to Brugada syndrome, MONDO:0015263, KCNE5-related; Atrial fibrillation MONDO:0004981, KCNE5-related","entity_name":"KCNE5","entity_type":"gene"},{"created":"2025-12-18T16:25:40.442360+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3817","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCNE3 were changed from Brugada syndrome to Brugada syndrome 6 MIM#613119","entity_name":"KCNE3","entity_type":"gene"},{"created":"2025-12-18T16:16:08.838140+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"1.315","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related","entity_name":"KCND2","entity_type":"gene"},{"created":"2025-12-18T16:15:03.943379+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3816","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KCND2 were changed from Neurodevelopmental disorder MONDO:0700092; global developmental delay, HP:0001263; seizure, HP:0001250 to Neurodevelopmental disorder MONDO:0700092, KCND2-related","entity_name":"KCND2","entity_type":"gene"},{"created":"2025-12-18T16:13:27.526731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3815","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KATNAL2 were changed from Oligo-astheno-teratozoospermia; Autism to Male infertility MONDO:0005372, KATNAL2-related; Complex neurodevelopmental disorder MONDO:0100038, KATNAL2-related","entity_name":"KATNAL2","entity_type":"gene"},{"created":"2025-12-18T16:10:23.558172+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3814","user_name":"Lucy Spencer","item_type":"entity","text":"commented on gene: KATNAL2","entity_name":"KATNAL2","entity_type":"gene"},{"created":"2025-12-18T16:03:47.085299+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3814","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KANK4 were changed from Nephrotic syndrome to Nephrotic syndrome MONDO:0005377, KANK4-related","entity_name":"KANK4","entity_type":"gene"},{"created":"2025-12-18T15:35:52.720392+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3813","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: KALRN were changed from Susceptibility to coronary heart disease; Intellectual disability to Coronary artery disorder MONDO:0005010, KALRN-related; Intellectual disability (MONDO:0001071), KALRN-related","entity_name":"KALRN","entity_type":"gene"},{"created":"2025-12-18T15:25:43.318283+11:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"2.1","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824","entity_name":"JAM2","entity_type":"gene"},{"created":"2025-12-18T15:24:56.321884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.3812","user_name":"Lucy Spencer","item_type":"entity","text":"Phenotypes for gene: JAM2 were changed from Primary brain calcification to Basal ganglia calcification, idiopathic, 8, autosomal recessive MIM#618824","entity_name":"JAM2","entity_type":"gene"}]}